Staff Profile
Professor John Loughlin
Prof of Musculoskeletal Research
- Telephone: +44 (0) 191 241 8988
- Personal Website: https://orcid.org/0000-0003-2018-3361
- Address: Biosciences Institute
International Centre for Life
Faculty of Medical Sciences
Newcastle University
Central Parkway
Newcastle upon Tyne
NE1 3BZ
UK
Introduction
I'm a molecular and cell biologist with a background in genetics. My first degree was in applied biochemistry at Liverpool Polytechnic followed by a PhD in developmental biology at the University of Leeds. My postdoctoral studies were undertaken in the Institute of Molecular Medicine at the University of Oxford. These involved a molecular genetic analysis of diseases of the musculoskeletal system.
I subsequently obtained a fellowship from the Arthritis Research Campaign (now known as Versus Arthritis) and established a group at the Wellcome Trust Centre for Human Genetics. At that point my focus became the genetic analysis of osteoarthritis (OA).
In 2002 I was awarded a tenured lectureship at Oxford and in 2008 I moved to Newcastle as Professor of Musculoskeletal Research.
Click here to view my Google Scholar citations.
Click here to view my ORCID account.
Qualifications
- 1999 MA (status) University of Oxford
- 1991 PhD Molecular and Developmental Biology, University of Leeds
- 1987 BSc (Hon) Applied Biochemistry, Liverpool Polytechnic
Previous Positions
- 2002-2007 University Lecturer in Musculoskeletal Sciences (tenured post), University of Oxford
- 1997-2002 Arthritis Research Campaign Fellow, University of Oxford
- 1995-1997 Postdoctoral Scientist, Wellcome Trust Centre for Human Genetics, University of Oxford
- 1991-1995 Postdoctoral Scientist, Institute of Molecular Medicine, University of Oxford
Memberships
I am a member of the following professional societies:- Osteoarthritis Research Society International (OARSI)
- British Society for Genetic Medicine (BSGM)
- British Society for Matrix Biology (BSMB)
Research Interests
The principal research focus of my group is identifying and then characterising those genes that confer risk towards the development and progression of osteoarthritis (OA).
We are known as the Osteoarthritis Genetics Group (OAG) and we are based within the Biosciences Institute at the International Centre for Life.
OA is a common disease involving loss of normal joint function. It is painful, debilitating and impacts not only on the quality of life but also on the length of life. Click here for more information.
The form of the disease that we work on is the one that arises without an obvious cause, such as in the absence of a clear injury. This form of the disease, known as primary OA, affects older people.
A number of epidemiological studies have demonstrated that OA has a large genetic component. Through the application of powerful genome-wide association scans involving tens of thousands of OA patients, we have identified many genes harbouring susceptibility alleles for OA.
Our efforts are directed toward comprehensive functional analysis of the risk alleles within these genes and in others that are emerging from ongoing scans. To do this, we use a range of molecular and cellular laboratory techniques, investigating cell lines and primary cells from patients.
Many of the OA genes that we investigate harbour polymorphisms that influence gene expression and this has stimulated our study of the tissue-specific effects of cis polymorphism on allelic expression imbalance and of the role of methylation at CpG dinucleotides as an epigenetic regulator of OA genetic risk.
We are also starting to assess at a molecular level if this genetic risk is mechanistically laid down early in the life course and therefore has developmental origins.
Esteem Indicators
- Newcastle director of the Medical Research Council Versus Arthritis Centre for Integrated Research into Musculoskeletal Ageing (CIMA) (2015-2023)
- Member of the Early Career Award interview committee of the Wellcome Trust (2022)
- Member and deputy lead of the Versus Arthritis Musculoskeletal Research Advisory Group (2019-2022)
- Member of the Versus Arthritis College of Experts (2019-2022)
- External evaluator of the Ludwig Boltzmann Institute for Arthritis and Rehabilitation, Vienna, Austria (2021)
- Member of the Publications Committee of the Osteoarthritis Research Society International (OARSI) (2019-2021)
- Advisor on academic appointments or promotions for Cardiff University (2020), University of Birmingham (2019), Weill Cornell Medical College (2018), Stanford School of Medicine, Stanford University (2018), University of Edinburgh (2017), Boston University School of Medicine (2016), Johns Hopkins University School of Medicine (2014), and Duke University Medical Center (2014)
- Co-organiser and co-chair of the 2nd Osteoarthritis Epigenetics Workshop, Dublin, Ireland (2018)
- Member of the Board of Directors of OARSI (2008-2019)
- President of OARSI (2015-2017)
- Chair of the Arthritis Research UK Senior Research Fellowships committee (2016)
- Co-organiser and co-chair of the 1st Osteoarthritis Epigenetics Workshop, Amsterdam, Netherlands (2015)
- Chair of the Ethics Committee of OARSI (2012-2014)
- Program committee member and session chair, OARSI Congress 2012, 2013 and 2014
- Secretary General of OARSI (2010-2013)
- Member of the Fellowship Implementation Committee of Arthritis Research UK (2007-2013)
- Moderator for the pre-congress workshop on "Genetics, genomics and functional analysis of OA susceptibility", OARSI Congress (2012)
- Chair and organiser of the second OA Biomarkers workshop, Atlanta, USA (2010)
- Editorial Board member of the journals Osteoarthritis & Cartilage, BMC Musculoskeletal Disorders, Osteoarthritis & Cartilage Open, and Bone & Joint Research
- Presented my groups research, and overviews of the research area, at international conferences in Europe, North America and Asia
Funding & Public Engagement
I have been the principal investigator (PI) for 30 grants and the co-investigator (CI) for an additional 25, with a total grant income of over £27 million.
My current and recent grants come from the following funders and agencies:
- Medical Research Council (MRC)
- Versus Arthritis
- European Union
- Wellcome Trust
- Randerson Foundation
- JGW Patterson Foundation
- Newcastle upon Tyne Hospitals NHS Foundation Trust
- NC3Rs/EPSRC
- Ruth and Lionel Jacobson Charitable Trust
- Royal College of Surgeons of England
- Royal College of Surgeons of Edinburgh
- GlaxoSmithKline (GSK)
I have presented my groups research activities to a number of patient and public meetings across the north of England, including in Newcastle upon Tyne, Chester-le-Street, Wansbeck and Appleby.
Undergraduate Teaching
- Lecturer on the BSc Biomedical Sciences module 'Clinical Ageing and Health' (BMS3017)
- Lecturer on the BSc Biomedical Sciences module 'Genetics and Human Disease' (BMS3010)
- Exam question setter and marker
- Supervisor for undergraduate laboratory projects
- Supervisor for undergraduate vacation scholarships
- Undergraduate project marker
- Tutor for biomedical students
Postgraduate Teaching
- Lecturer for the MRes module 'Genetics of Common Diseases' (MMB8014)
- Supervisor for MRes and MSci laboratory projects
- Supervisor for Academic Foundation trainees (AFPs) and Academic Clinical Fellows (ACFs)
- MRes exam question setter, exam marker, and dissertation project marker
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Articles
- Roberts JB, Boldvig OLG, Aubourg G, Kanchenapally ST, Deehan DJ, Rice SJ, Loughlin J. Specific isoforms of the ubiquitin ligase gene WWP2 are targets of osteoarthritis genetic risk via a differentially methylated DNA sequence. Arthritis Research & Therapy 2024, 26, 78.
- Kehayova YS, Wilkinson JM, Rice SJ, Loughlin J. Osteoarthritis genetic risk acting on the galactosyltransferase gene COLGALT2 has opposing functional effects in articulating joint tissues. Arthritis Research & Therapy 2023, 25, 83.
- Kehayova YS, Wilkinson JM, Rice SJ, Loughlin J. Mediation of the Same Epigenetic and Transcriptional Effect by Independent Osteoarthritis Risk–Conferring Alleles on a Shared Target Gene, COLGALT2. Arthritis & Rheumatology 2023, 75(6), 910-922.
- Rice SJ, Brumwell A, Falk J, Kehayova YS, Casement J, Parker E, Hofer IMJ, Shepherd C, Loughlin J. Genetic risk of osteoarthritis operates during human skeletogenesis. Human Molecular Genetics 2023, 32(13), 2124-2138.
- Widera P, Welsing PMJ, Danso SO, Peelen S, Kloppenburg M, Loef M, Marijnissen AC, vanHelvoort EM, Blanco FJ, Magalhaes J, Berenbaum F, Haugen IK, Bay-Jensen AC, Mobasheri A, Ladel C, Loughlin J, Lafeber FPJG, Lalande A, Larkin J, Weinans H, Bacardit J. Development and validation of a machine learning-supported strategy of patient selection for osteoarthritis clinical trials. Osteoarthritis Cartilage Open 2023, 5(4), 100406.
- Loughlin J. Translating osteoarthritis genetics research: challenging times ahead. Trends in Molecular Medicine 2022, 28(3), 176-182.
- Paskins Z, Farmer CE, Manning F, Andersson DA, Barlow T, Bishop FL, Brown CA, Clark A, Clark EM, Dulake D, Gulati M, LeMaitre CL, Jones RK, Loughlin J, Mason DJ, McCarron M, Millar NL, Pandit H, Peat G, Richardson SM, Salt EJ, Taylor EJ, Linda L, Wilcox RK, Wise E, Wilkinson C, Watt FE. Research priorities to reduce the impact of musculoskeletal disorders: a priority setting exercise with the child health and nutrition research initiative method. Lancet Rheumatology 2022, 4(9), E635-E645.
- van Helvoort EM, Jansen MP, Marijnissen ACA, Kloppenburg M, Blanco FJ, Haugen IK, Berenbaum F, Bay-Jensen AC, Ladel C, Lalande A, Larkin J, Loughlin J, Mobasheri A, Weinans HH, Widera P, Bacardit J, Welsing PMJ, Lafeber FPJG. Predicted and actual 2-year structural and pain progression in the IMI-APPROACH knee osteoarthritis cohort. Rheumatology 2022, 62(1), 147–157.
- Brumwell A, Aubourg G, Hussain J, Parker E, Deehan DJ, Rice SJ, Loughlin J. Identification of TMEM129, encoding a ubiquitin-protein ligase, as an effector gene of osteoarthritis genetic risk. Arthritis Research & Therapy 2022, 24, 189.
- Aubourg G, Rice SJ, Bruce-Wootton P, Loughlin J. Genetics of osteoarthritis. Osteoarthritis and Cartilage 2022, 30(5), 636-649.
- Mobasheri A, Im GI, Katz JN, Loughlin J, Kraus VB, Sandell LJ, Berenbaum F, Abramson S, Lotz M, Hochberg M, Pelletier JP, Madry H, Block JA, Lohmander LS, Altman RD. Osteoarthritis Research Society International (OARSI): Past, present and future. Osteoarthritis and Cartilage Open 2021, 3(2), 100146.
- van Helvoort EM, Welsing PM, Jansen MP, Gielis WP, Loef M, Kloppenburg M, Blanco F, Haugen IK, Berenbaum F, Bay-Jensen AC, Ladel C, Lalande A, Larkin J, Loughlin J, Mobasheri A, Weinans H, Lafeber F, Eijkelkamp N, Mastberge S. Neuropathic pain in the IMI-APPROACH knee osteoarthritis cohort: prevalence and phenotyping. RMD Open 2021, 7, e002025.
- Parker E, Hofer IMJ, Rice SJ, Earl L, Anjum SA, Deehan DJ, Loughlin J. Multi‐Tissue Epigenetic and Gene Expression Analysis Combined With Epigenome Modulation Identifies RWDD2B as a Target of Osteoarthritis Susceptibility. Arthritis and Rheumatology 2021, 73(1), 100-109.
- Boer CG, Yau MS, Rice SJ, Coutinho de Almeida R, Cheung K, Styrkarsdottir U, Southam L, Broer L, Wilkinson JM, Uitterlinden AG, Zeggini E, Felson D, Loughlin J, Young M, Capellini TD, Meulenbelt I, van Meurs JBJ. Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify WNT9A as novel osteoarthritis gene. Annals of the Rheumatic Diseases 2021, 80(3), 367-375.
- Kehayova YS, Watson E, Wilkinson JM, Loughlin J, Rice SJ. Genetic and Epigenetic Interplay Within a COLGALT2 Enhancer Associated With Osteoarthritis. Arthritis and Rheumatology 2021, 73(10), 1856-1865.
- Rice SJ, Roberts JB, Tselepi M, Brumwell A, Falk J, Steven C, Loughlin J. Genetic and Epigenetic Fine-Tuning of TGFB1 Expression Within the Human Osteoarthritic Joint. Arthritis and Rheumatology 2021, 73(10), 1866-1877.
- Mennan C, Hopkins T, Channon A, Elliot M, Johnstone B, Kadir T, Loughlin J, Peffers M, Pitsillides A, Sofat N, Stewart C, Watt FE, Zeggini E, Holt C, Roberts S. The use of technology in the subcategorisation of osteoarthritis: a Delphi study approach. Osteoarthritis and Cartilage Open 2020, 2(3), 100081.
- Sorial AK, Hofer IM, Tselepi M, Cheung K, Parker E, Deehan DJ, Rice SJ, Loughlin J. Multi-tissue epigenetic analysis of the osteoarthritis susceptibility locus mapping to the plectin gene PLEC. Osteoarthritis and Cartilage 2020, 28(11), 1448-1458.
- Widera P, Welsing PM, Ladel C, Loughlin J, Lafeber FP, Petit-Dop F, Larkin J, Weinans H, Mobasheri A, Bacardit J. Multi-classifier prediction of knee osteoarthritis progression from incomplete imbalanced longitudinal data. Scientific Reports 2020, 10, 8427.
- Rice SJ, Beier F, Young DA, Loughlin J. Interplay between genetics and epigenetics in osteoarthritis. Nature Reviews Rheumatology 2020, 16, 268-281.
- vanHelvoort EM, vanSpil WE, Jansen MP, Welsing PMJ, Kloppenburg M, Loef M, Blanco FJ, Haugen IK, Berenbaum F, Bacardit J, Ladel CH, Loughlin J, BayJensen AC, Mobasheri A, Larkin J, Boere J, Weinans HH, Lalande A, Marijnissen ACA, Lafeber FPJG. Cohort profile: The Applied Public-Private Research enabling OsteoArthritis Clinical Headway (IMI-APPROACH) study: a 2-year, European, cohort study to describe, validate and predict phenotypes of osteoarthritis using clinical, imaging and biochemical markers. BMJ Open 2020, 10, e035101.
- Rice SJ, Tselepi M, Sorial AK, Aubourg G, Shepherd C, Almarza D, Skelton AJ, Pangou I, Deehan DJ, Reynard L, Loughlin J. Prioritization of PLEC and GRINA as osteoarthritis risk genes through the identification and characterization of novel methylation quantitative trait loci. Arthritis and Rheumatology 2019, 71(8), 1285-1296.
- Styrkarsdottir U, Stefansson OA, Gunnarsdottir K, Thorleifsson G, Lund SH, Stefansdottir L, Juliusson K, Agustsdottir AB, Zink F, Halldorsson GH, Ivarsdottir EV, Benonisdottir S, Jonsson H, Gylfason A, Norland K, Trajanoska K, Boer CG, Southam L, Leung JCS, Tang NLS, Kwok TCY, Lee JSW, Ho SC, Byrjalsen I, Center JR, Lee SH, Koh JM, Lohmander LS, Ho-Pham LT, Nguyen TV, Eisman JA, Woo J, Leung PC, Loughlin J, Zeggini E, Christiansen C, Rivadeneira F, van Meurs J, Uitterlinden AG, Mogensen B, Jonsson H, Ingvarsson T, Sigurdsson G, Benediktsson R, Sulem P, Jonsdottir I, Masson G, Holm H, Norddahl GL, Thorsteinsdottir U, Gudbjartsson DF, Stefansson K. GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures. Nature Communications 2019, 10, 2054.
- Klein JC, Keith A, Rice SJ, Shepherd C, Agarwal V, Loughlin J, Shendure J. Functional testing of thousands of osteoarthritis-associated variants for regulatory activity. Nature Communications 2019, 10, 2434.
- Shepherd C, Reese AE, Reynard LN, Loughlin J. Expression analysis of the osteoarthritis genetic susceptibility mapping to the matrix Gla protein gene MGP. Arthritis Research & Therapy 2019, 21, 149.
- Rice SJ, Cheung K, Reynard LN, Loughlin J. Discovery and analysis of methylation quantitative trait loci (mQTLs) mapping to novel osteoarthritis genetic risk signals. Osteoarthritis and Cartilage 2019, 27(10), 1545-1556.
- Rice SJ, Aubourg G, Sorial AK, Almarza D, Tselepi M, Deehan DJ, Reynard LN, Loughlin J. Identification of a novel, methylation-dependent, RUNX2 regulatory region associated with osteoarthritis risk. Human Molecular Genetics 2018, 27(19), 3464-3474.
- Hatzikotoulas K, Roposch A, Shah KM, Clark MJ, Bratherton S, Limbani V, Steinberg J, Zengini E, Warsame K, Ratnayake M, Tselepi M, Schwartzentruber J, Loughlin J, Eastwood DM, Zeggini E, Wilkinson JM. Genome-wide association study of developmental dysplasia of the hip identifies an association with GDF5. Communications Biology 2018, 1, 56.
- Shepherd C, Zhu D, Skelton AJ, Combe J, Threadgold H, Zhu L, Vincent TL, Stuart P, Reynard LN, Loughlin J. Functional characterization of the osteoarthritis genetic risk residing at ALDH1A2 identifies rs12915901 as a key target variant. Arthritis & Rheumatology 2018, 70(10), 1577-1587.
- Styrkarsdottir U, Helgason H, Sigurdsson A, Norddahl GL, Agustsdottir AB, Reynard LN, Villalvilla A, Halldorsson GH, Jonasdottir A, Magnusdottir A, Oddson A, Sulem G, Zink F, Sveinbjornsson G, Helgason A, Johannsdottir HS, Helgadottir A, Stefansson H, Gretarsdottir S, Rafnar T, Almdahl IS, Brækhus A, Fladby T, Selbæk G, Hosseinpana F, Azizi F, Koh JM, Tang NL, Danesphour M, Mayordomo JI, Welt C, Braund PS, Samani NJ, Kiemeney LA, Lohmander LS, Christiansen C, Andreassen OA, arcOGEN consortium, Magnusson O, Masson G, Kong A, Jonsdottir I, Gudbjartsson D, Sulem P, Jonsson H, Loughlin J, Ingvarsson T, Thorsteinsdottir U, Stefansson K. Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis. Nature Genetics 2017, 49(5), 801-805.
- Meulenbelt IM, Bhutani N, den Hollander W, Gay S, Oppermann U, Reynard LN, Skelton AJ, Young DA, Beier F, Loughlin J. The first international workshop on the epigenetics of osteoarthritis. Connective Tissue Research 2017, 58(1), 37-48.
- Ratnayake M, Tselepi M, Bloxham R, Plöger F, Reynard LN, Loughlin J. A consistent and potentially exploitable response during chondrogenesis of mesenchymal stem cells from osteoarthritis patients to the protein encoded by the susceptibility gene GDF5. PLoS ONE 2017, 12(5), e0176523.
- van-der-Kraan PM, Berenbaum F, Blanco FJ, de-Bari C, Lafeber F, Hauge E, Higginbottom A, Ioan-Facsinay A, Loughlin J, Meulenbelt I, Moilanen E, Pitsillidou I, Tsezou A, van-Meurs J, Vincent T, Wittoek R, Lories R. Translation of clinical problems in osteoarthritis into pathophysiological research goals. RMD Open 2016, 2(1), e000224.
- Reynard LN, Ratnayake M, Santibanez-Koref M, Loughlin J. Functional characterization of the osteoarthritis susceptibility mapping to CHST11 - a bioinformatics and molecular study. PLoS ONE 2016, 11(7), e0159024.
- Peffers MJ, Goljanek-Whysall K, Collins J, Fang Y, Rushton M, Loughlin J, Proctor C, Clegg PD. Decoding the regulatory landscape of ageing in musculoskeletal engineered tissues using genome-wide DNA methylation and RNASeq. PLoS One 2016, 11(8), e0160517.
- Peffers MJ, Collins J, Fang Y, Goljanek-Whysall K, Rushton M, Loughlin J, Proctor C, Clegg PD. Age-related Changes in Mesenchymal Stem Cells Identified Using a Multi-omics Approach. European Cells & Materials 2016, 31, 136-159.
- Peffers MJ, Collins J, Loughlin J, Proctor C, Clegg PD. A proteomic analysis of chondrogenic, osteogenic and tenogenic constructs from ageing mesenchymal stem cells. Stem Cell Research & Therapy 2016, 7, 133.
- Rogers EL, Reynard LN, Loughlin J. The role of inflammation-related genes in osteoarthritis. Osteoarthritis and Cartilage 2015, 23(11), 1933-1938.
- Loughlin J, Reynard LN. Osteoarthritis: Epigenetics of articular cartilage in knee and hip OA. Nature Reviews Rheumatology 2015, 11(1), 6-7.
- Rushton MD, Reynard LN, Young DA, Shepherd C, Aubourg G, Gee F, Darlay R, Deehan D, Cordell HJ, Loughlin J. Methylation quantitative trait locus (meQTL) analysis of osteoarthritis links epigenetics with genetic risk. Human Molecular Genetics 2015, 24(25), 7432-7444.
- Loughlin J. Genetic contribution to osteoarthritis development: current state of evidence. Current Opinion in Rheumatology 2015, 27(3), 284-288.
- Johnson K, Reynard LN, Loughlin J. Functional characterisation of the osteoarthritis susceptibility locus at chromosome 6q14.1 marked by the polymorphism rs9350591. BMC Medical Genetics 2015, 16(1), 81.
- Shepherd C, Skelton AJ, Rushton MD, Reynard LN, Loughlin J. Expression analysis of the osteoarthritis genetic susceptibility locus mapping to an intron of the MCF2L gene and marked by the polymorphism rs11842874. BMC Medical Genetics 2015, 16(1), 108.
- Rushton MD, Young DA, Loughlin J, Reynard LN. Differential DNA methylation and expression of inflammatory and zinc transporter genes defines subgroups of osteoarthritic hip patients. Annals of the Rheumatic Diseases 2015, 74(9), 1778-1782.
- Gee F, Rushton MD, Loughlin J, Reynard LN. Correlation of the Osteoarthritis Susceptibility Variants That Map to Chromosome 20q13 With an Expression Quantitative Trait Locus Operating on NCOA3 and With Functional Variation at the Polymorphism rs116855380. Arthritis & Rheumatology 2015, 67(11), 2923-2932.
- Raine EVA, Reynard LN, van de Laar IMBH, Bertoli-Avella AM, Loughlin J. Identification and analysis of a SMAD3 cis-acting eQTL operating in primary osteoarthritis and in the aneurysms and osteoarthritis syndrome. Osteoarthritis and Cartilage 2014, 22(5), 698-705.
- Raine EV, Reynard LN, vandeLaar IM, Bertoli-Avella AM, Loughlin J. Identification and analysis of a SMAD3 cis-acting eQTL operating in primary osteoarthritis and in the aneurysms and osteoarthritis syndrome. Osteoarthritis Cartilage 2014, 22(5), 698-705.
- Ratnayake M, Plöger F, Santibanez-Koref M, Loughlin J. Human Chondrocytes Respond Discordantly to the Protein Encoded by the Osteoarthritis Susceptibility Gene GDF5. PLoS ONE 2014, 9(1), e86590.
- Reynard LN, Bui C, Syddall CM, Loughlin J. CpG methylation regulates allelic expression of GDF5 by modulating binding of SP1 and SP3 repressor proteins to the osteoarthritis susceptibility SNP rs143383. Human Genetics 2014, 133(8), 1059-1073.
- Rushton MD, Reynard LN, Barter MJ, Refaie R, Rankin KS, Young DA, Loughlin J. Characterization of the cartilage DNA methylome in knee and hip osteoarthritis. Arthritis & Rheumatology 2014, 66(9), 2450-2460.
- Rodriguez-Fontenla C, Calaza M, Evangelou E, Valdes AM, Arden N, Blanco FJ, Carr A, Chapman K, Deloukas P, Doherty M, Esko T, Garces CM, Gomez-Reino JJ, Helgadottir H, Hofman A, Jonsdottir I, Kerkhof HJM, Kloppenburg M, McCaskie A, Ntzani EE, Ollier WER, Oreiro N, Panoutsopoulou K, Ralston SH, Ramos YF, Riancho JA, Rivadeneira F, Slagboom PE, Styrkarsdottir U, Thorsteinsdottir U, Thorleifsson G, Tsezou A, Uitterlinden AG, Wallis GA, Wilkinson JM, Zhai G, Zhu Y, the arcOGEN Consortium, Felson DT, Ioannidis JPA, Loughlin J, Metspalu A, Meulenbelt I, Stefansson K, van Meurs JB, Zeggini E, Spector TD, Gonzalez A. Assessment of osteoarthritis candidate genes in a meta-analysis of 9 genome-wide association studies. Arthritis & Rheumatism 2014, 66(4), 940-949.
- Gee F, Clubbs CF, Raine EV, Reynard LN, Loughlin J. Allelic expression analysis of the osteoarthritis susceptibility locus that maps to chromosome 3p21 reveals cis-acting eQTLs at GNL3 and SPCS1. BMC Medical Genetics 2014, 15, 53.
- Gee F, Clubbs CF, Raine EVA, Reynard LN, Loughlin J. Allelic expression analysis of the osteoarthritis susceptibility locus that maps to chromosome 3p21 reveals cis-acting eQTLs at GNL3 and SPCS1 . BMC Medical Genetics 2014, 15, 53.
- Evangelou E, Kerkhof HJ, Styrkarsdottir U, Ntzani EE, Bos SD, Esko T, Evans DS, Metrustry S, Panoutsopoulou K, Ramos YFM, Thorleifsson G, Tsilidis KK, arcOGEN Consortium, Arden N, Aslam N, Bellamy N, Birrell F, Blanco FJ, Carr A, Chapman K, Day-Williams AG, Deloukas P, Doherty M, Engstrom G, Helgadottir HT, Hofman A, Ingvarsson T, Jonsson H, Keis A, Keurentjes JC, Kloppenburg M, Lind PA, McCaskie A, Martin NG, Milani L, Montgomery GW, Nelissen RGHH, Nevitt MC, Nilsson PM, Ollier WER, Parimi N, Rai A, Ralston SH, Reed MR, Riancho JA, Rivadeneira F, Rodriguez-Fontenla C, Southam L, Thorsteinsdottir U, Tsezou A, Wallis GA, Wilkinson JM, Gonzalez A, Lane NE, Lohmander LS, Loughlin J, Metspalu A, Uitterlinden AG, Jonsdottir I, Stefansson K, Slagboom PE, Zeggini E, Meulenbelt I, Ioannidis JPA, Spector TD, van Meurs JBJ, Valdes AM. A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip. Annals of the Rheumatic Diseases 2014, 73(12), 2130-2136.
- Syddall CM, Reynard LN, Young DA, Loughlin J. The Identification of Trans-acting Factors That Regulate the Expression of GDF5 via the Osteoarthritis Susceptibility SNP rs143383. PLoS Genetics 2013, 9(6), e1003557.
- Hudson G, Panoutsopoulou K, Wilson I, Southam L, Rayner NW, Arden N, Birrell F, Carluke I, Carr A, Chapman K, Deloukas P, Doherty M, McCaskie A, Ollier WE, Ralston SH, Reed MR, Spector TD, Valdes AM, Wallis GA, Wilkinson JM, Zeggini E, Samuels DC, Loughlin J, Chinnery PF. No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls. Annals of Rheumatic Diseases 2013, 72(1), 136-139.
- Reynard LN, Loughlin J. Insights from human genetic studies into the pathways involved in osteoarthritis. Nature Reviews Rheumatology 2013, 9, 573-583.
- Elliott KS, Chapman K, Day-Williams A, Panoutsopoulou K, Southam L, Lindgren CM, The GIANT Consortium, Arden N, Aslam N, Birrell F, Carluke I, Carr A, Deloukas P, Doherty M, Loughlin J, McCaskie A, Ollier WE, Rai A, Ralston S, Reed MR, Spector TD, Valdes AM, Wallis GA, Wilkinson M, The arcOGEN Consortium, Zeggini E. Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data. Annals of the Rheumatic Diseases 2013, 72(6), 935-941.
- Raine EV, Dodd AW, Reynard LN, Loughlin J. Allelic expression analysis of the osteoarthritis susceptibility gene COL11A1 in human joint tissues. BMC Musculoskeletal Disorders 2013, 14, 85.
- Dodd AW, Syddall CM, Loughlin J. A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression. European Journal of Human Genetics 2013, 21(5), 517-521.
- Bos SD, Bovée JV, Duijnisveld BJ, Raine EV, van Dalen WJ, Ramos YF, van der Breggen R, Nelissen RG, Slagboom PE, Loughlin J, Meulenbelt I. Increased type II deiodinase protein in OA-affected cartilage and allelic imbalance of OA risk polymorphism rs225014 at DIO2 in human OA joint tissues. Annals of the Rheumatic Diseases 2012, 71(7), 1254-1258.
- Xu Y, Barter MJ, Swan DC, Rankin KS, Rowan AD, Santibanez-Koref M, Loughlin J, Young DA. Identification of the pathogenic pathways in osteoarthritic hip cartilage: commonality and discord between hip and knee OA. Osteoarthritis and Cartilage 2012, 20(9), 1029-1038.
- Zeggini E, Panoutsopoulou K, Southam L, Rayner NW, Day-Williams AG, Lopes MC, Boraska V, Esko T, Evangelou E, Hofman A, Houwing-Duistermaat JJ, Ingvarsson T, Jonsdottir I, Jonsson H, Kerkhof HJM, Kloppenburg M, Bos SD, Mangino M, Metrustry S, Slagboom PE, Thorleifsson G, Raine EVA, Ratnayake M, Ricketts M, Beazley C, Blackburn H, Bumpstead S, Elliott KS, Hunt SE, Potter SC, Shin SY, Yadav VK, Zhai GJ, Sherburn K, Dixon K, Arden E, Aslam N, Battley PK, Carluke I, Doherty S, Gordon A, Joseph J, Keen R, Koller NC, Mitchell S, O'Neill F, Paling E, Reed MR, Rivadeneira F, Swift D, Walker K, Watkins B, Wheeler M, Birrell F, Ioannidis JPA, Meulenbelt I, Metspalu A, Rai A, Salter D, Stefansson K, Styrkarsdottir U, Uitterlinden AG, van Meurs JBJ, Chapman K, Deloukas P, Ollier WER, Wallis GA, Arden N, Carr A, Doherty M, McCaskie A, Wilkinson JM, Ralston SH, Valdes AM, Spector TD, Loughlin J. Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study. Lancet 2012, 380(9844), 815-823.
- Zeggini E, Panoutsopoulou K, Southam L, Rayner NW, Day-Williams AG, Lopes MC, Boraska V, Esko T, Evangelou E, Hoffman A, Houwing-Duistermaat JJ, Ingvarsson T, Jonsdottir I, Jonnson H, Kerkhof HJ, Kloppenburg M, Bos SD, Mangino M, Metrustry S, Slagboom PE, Thorleifsson G, Raine EV, Ratnayake M, Ricketts M, Beazley C, Blackburn H, Bumpstead S, Elliott KS, Hunt SE, Potter SC, Shin SY, Yadav VK, Zhai G, Sherburn K, Dixon K, Arden E, Aslam N, Battley PK, Carluke I, Doherty S, Gordon A, Joseph J, Keen R, Koller NC, Mitchell S, O'Neill F, Paling E, Reed MR, Rivadeneira F, Swift D, Walker K, Watkins B, Wheeler M, Birrell F, Ioannidis JP, Meulenbelt I, Metspalu A, Rai A, Salter D, Stefansson K, Stykarsdottir U, Uitterlinden AG, vanMeurs JB, Chapman K, Deloukas P, Ollier WE, Wallis GA, Arden N, Carr A, Doherty M, McCaskie A, Willkinson JM, Ralston SH, Valdes AM, Spector TD, Loughlin J. Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study. Lancet 2012, 380(9844), 815-823.
- Reynard LN, Loughlin J. Genetics and epigenetics of osteoarthritis. Maturitas 2012, 71(3), 200–204.
- Raine EV, Wreglesworth N, Dodd AW, Reynard LN, Loughlin J. Gene expression analysis reveals HBP1 as a key target for the osteoarthritis susceptibility locus that maps to chromosome 7q22. Annals of the Rheumatic Diseases 2012, 71(12), 2020-2027.
- Raine EVA, Wreglesworth N, Dodd AW, Reynard LN, Loughlin J. Gene expression analysis reveals HBP1 as a key target for the osteoarthritis susceptibility locus that maps to chromosome 7q22. Annals of the Rheumatic Diseases 2012, 71(12), 2020-2027.
- Rodriguez-Fontenla C, Carr A, Gomez-Reino JJ, Tsezou A, Loughlin J, Gonzalez A. Association of a BMP5 microsatellite with knee osteoarthritis: case-control study. Arthritis Research & Therapy 2012, 14(6), R257.
- Ratnayake M, Reynard LN, Raine EVA, Santibanez-Koref M, Loughlin J. Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL3. BMC Medical Genetics 2012, 13(1), 12.
- Ratnayake M, Reynard LN, Raine EV, Santibanez-Koref M, Loughlin J. Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL3. BMC Medical Genetics 2012, 13, 12.
- Horvath R, Holinski Feder E, Neeve VC, Pyle A, Griffin H, Ashok D, Foley C, Hudson G, Rautenstrauss B, Nürnberg G, Nürnberg P, Kortler J, Neitzel B, Bäßmann I, Rahman T, Keavney B, Loughlin J, Hambleton S, Schoser B, Lochmüller H, Santibanez Koref M, Chinnery PF. A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. Movement Disorders 2012, 76(6), 789-793.
- Southam L, Panoutsopoulou K, Rayner NW, Chapman K, Durrant C, Ferreira T, Arden N, Carr A, Deloukas P, Doherty M, Loughlin J, McCaskie A, Ollier WE, Ralston S, Spector TD, Valdes AM, Wallis GA, Wilkinson JM, the arcOGEN consortium, Marchini J, Zeggini E. The effect of genome-wide association scan quality control on imputation outcome for common variants. European Journal of Human Genetics 2011, 19(5), 610–614.
- Loughlin J. Osteoarthritis year 2010 in review: genetics. Osteoarthritis and Cartilage 2011, 19(4), 342-345.
- Evangelou E, Valdes AM, Kerkhof HJ, Styrkarsdottir U, Zhu Y, Meulenbelt I, Lories RJ, Karassa FB, Tylzanowski P, Bos SD, arcOGEN Consortium, Akune T, Arden NK, Carr A, Chapman K, Cupples LA, Dai J, Deloukas P, Doherty M, Doherty S, Engstrom G, Gonzalez A, Halldorsson BV, Hammond CL, Hart DJ, Helgadottir H, Hofman A, Ikegawa S, Ingvarsson T, Jiang Q, Jonsson H, Kaprio J, Kawaguchi H, Kisand K, Kloppenburg M, Kujala UM, Lohmander LS, Loughlin J, Luyten FP, Mabuchi A, McCaskie A, Nakajima M, Nilsson PM, Nishida N, Ollier WE, Panoutsopoulou K, van de Putte T, Ralston SH, Rivadeneira F, Saarela J, SchulteMerker S, Shi D, Slagboom PE, Sudo A, Tamm A, Tamm A, Thorleifsson G, Thorsteinsdottir U, Tsezou A, Wallis GA, Wilkinson JM, Yoshimura N, Zeggini E, Zhai G, Zhang F, Jonsdottir I, Uitterlinden AG, Felson DT, van Meurs JB, Stefansson K, Ioannidis JP, Spector TD, Translation Research in Europe Applied Technologies for Osteoarthritis (TreatOA). Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22. Annals of the Rheumatic Diseases 2011, 70(2), 349-355.
- Meulenbelt I, Bos SD, Chapman K, van der Breggen R, Houwing-Duistermaat JJ, Kremer D, Kloppenburg M, Carr A, Tsezou A, Gonzalez A, Loughlin J, Slagboom E. Meta-analyses of genes modulating intracellular T3 bio-availability reveal a possible role for the DIO3 gene in osteoarthritis susceptibility. Annals of the Rheumatic Diseases 2011, 70(1), 164-167.
- Panoutsopoulou K, Southam L, Elliott KS, Wrayner N, Zhai G, Beazley C, Thorleifsson G, Arden NK, Carr A, Chapman K, Deloukas P, Doherty M, McCaskie A, Ollier WE, Ralson SH, Spector TD, Valdes AM, Wallis GA, Wilkinson JM, Arden E, Battley K, Blackburn H, Blanco FJ, Bumpstead S, Cupples LA, Day-Williams AG, Dixon K, Doherty SA, Esko T, Evangelou E, Felson D, Gomez-Reino JJ, Gonzalez A, Gordon A, Gwilliam R, Haldorsson BV, Hauksson VB, Hofman A, Hunt SE, Ioannidis JP, Ingvarsson T, Jonsdottir I, Jonsson H, Keen R, Kerkhof HJ, Kloppenburg MG, Koller N, Lakenberg N, Lane NE, Lee AT, Metspalu A, Meulenbelt I, Nevitt MC, O'Neill F, Parimi N, Potter SC, Rego-Perez I, Riancho JA, Sherburn K, Slagboom PE, Stefansson K, Styrkarsdottir U, Sumillera M, Swift D, Thorsetinsdottir U, Tsezou A, Uitterlinkden AG, van Meurs JB, Watkins B, Wheeler M, Mitchell S, Zhu Y, Zmuda JM, arcOGEN consortium, Zeggini E, Loughlin J. Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study. Annals of the Rheumatic Diseases 2011, 70(5), 864-867.
- Loughlin J. Genetic indicators and susceptibility to osteoarthritis. British Journal of Sports Medicine 2011, 45(4), 278-282.
- Reynard LN, Bui C, Canty-Laird EG, Young DA, Loughlin J. Expression of the osteoarthritis-associated gene GDF5 is modulated epigenetically by DNA methylation. Human Molecular Genetics 2011, 20(17), 3450-3460.
- Dickinson RE, Griffin H, Bigley V, Reynard LN, Hussain R, Haniffa M, Lakey JH, Rahman T, Wang XN, McGovern N, Pagan S, Cookson S, McDonald D, Chua I, Wallis J, Cant A, Wright M, Keavney B, Chinnery PF, Loughlin J, Hambleton S, Santibanez-Koref M, Collin M. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood 2011, 118(10), 2656-2658.
- Dodd AW, Rodriguez-Fontenla C, Calaza M, Carr A, Gomez-Reino JJ, Tsezou A, Reynard LN, Gonzalez A, Loughlin J. Deep sequencing of GDF5 reveals the absence of rare variants at this important osteoarthritis susceptibility locus. Osteoarthritis and Cartilage 2011, 19(4), 430-434.
- Day-Williams AG, Southam L, Panoutsopoulou K, Rayner NW, Esko T, Estrada K, Helgadottir HT, Hofman A, Ingvarsson T, Jonsson H, Keis A, Kerkhof HJM, Thorleifsson G, Arden NK, Carr A, Chapman K, Deloukas P, Loughlin J, McCaskie A, Ollier WER, Ralston SH, Spector TD, Wallis GA, Wilkinson JM, Aslam N, Birell F, Carluke I, Joseph J, Rai A, Reed M, Walker K, arcOGEN Consortium, Doherty SA, Jonsdottir I, Maciewicz RA, Muir KR, Metspalu A, Rivadeneira F, Stefansson K, Styrkarsdottir U, Uitterlinden AG, van Meurs JBJ, Zhang W, Valdes AM, Doherty M, Zeggini E. A variant in MCF2L is associated with osteoarthritis. American Journal of Human Genetics 2011, 89(3), 446-450.
- Moxley G, Meulenbelt I, Chapman K, van Duijn CM, Slagboom PE, Neale MC, Smith AJP, Carr AJ, Loughlin J. Interleukin-1 region meta-analysis with osteoarthritis phenotypes. Osteoarthritis and Cartilage 2010, 18(2), 200-207.
- Bowl MR, Mirczuk SM, Grigorieva IV, Piret SE, Cranston T, Southam L, Allgrove J, Bahl S, Brain C, Loughlin J, Mughal Z, Ryan F, Shaw N, Thakker YV, Tiosano D, Nesbit MA, Thakker RV. Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism. Human Molecular Genetics 2010, 19(10), 2028-2038.
- Riancho JA, Garcia-Ibarbia C, Gravani A, Raine EV, Rodriguez-Fontenla C, Soto-Hermida A, Rego-Perez I, Dodd AW, Gomez-Reino JJ, Zarrabeitia MT, Garces CM, Carr A, Blanco F, Gonzalez A, Loughlin J. Common variations in estrogen-related genes are associated with severe large-joint osteoarthritis: a multicenter genetic and functional study. Osteoarthritis and Cartilage 2010, 18(7), 927-933.
- Kerkhof HJM, Meulenbelt I, Carr A, Gonzalez A, Hart D, Hofman A, Kloppenburg M, Lane NE, Loughlin J, Nevitt MC, Pols HAP, Rivadeneira F, Slagboom EP, Spector TD, Stolk L, Tsezou A, Uitterlinden AG, Valdes AM, van Meurs JBJ. Common genetic variation in the Estrogen Receptor Beta (ESR2) gene and osteoarthritis: results of a meta-analysis. BMC Medical Genetics 2010, 11(1), 164.
- Snelling SJB, Hulley PA, Loughlin J. BMP5 activates multiple signaling pathways and promotes chondrogenic differentiation in the ATDC5 growth plate model. Growth Factors 2010, 28(4), 268-279.
- Kerkhof HJM, Lories RJ, Meulenbelt I, Jonsdottir I, Valdes AM, Arp P, Ingvarsson T, Jhamai M, Jonsson H, Stolk L, Thorleifsson G, Zhai G, Zhang F, Zhu Y, van der Breggen R, Carr A, Doherty M, Doherty S, Felson DT, Gonzalez A, Halldorsson BV, Hart DJ, Hauksson VB, Hofman A, Ioannidis JPA, Kloppenburg M, Lane NE, Loughlin J, Luyten FP, Nevitt MC, Parimi N, Pols HAP, Rivadeneira F, Slagboom EP, Styrkársdóttir U, Tsezou A, van de Putte T, Zmuda J, Spector TD, Stefansson K, Uitterlinden AG, van Meurs JBJ. A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22. Arthritis & Rheumatism 2010, 62(2), 499-510.
- Dieguez-Gonzalez R, Calaza M, Shi D, Meulenbelt I, Loughlin J, Tsezou A, Dai J, Malizos KN, Slagboom EP, Kloppenburg M, Chapman K, Jiang Q, Kremer D, Gomez-Reino JJ, Nakajima N, Ikegawa S, Gonzalez A. Testing the druggable EDG2 knee OA genetic factor for replication in a wide range of sample collections. Annals of the Rheumatic Diseases 2009, 68(6), 1017-1021.
- Evangelou E, Chapman K, Meulenbelt I, Karassa FB, Loughlin J, Carr A, Doherty M, Doherty S, Gomez-Reino JJ, Gonzalez A, Halldorsson BV, Hauksson VB, Hofman A, Hart DJ, Ikegawa S, Ingvarsson T, Jiang Q, Jonsdottir I, Jonsson H, Kerkhof HJM, Kloppenburg M, Lane NE, Li J, Lories RJ, van Meurs JBJ, Nakki A, Nevitt MC, Rodriguez-Lopez J, Shi DQ, Slagboom E, Stefansson K, Tsezou A, Wallis GA, Watson CM, Spector TD, Uitterlinden AG, Valdes AM, Ioannidis JPA. Large-Scale Analysis of Association Between GDF5 and FRZB Variants and Osteoarthritis of the Hip, Knee, and Hand. Arthritis & Rheumatism 2009, 60(6), 1710-1721.
- Evangelou E, Chapman K, Meulenbelt I, Karassa FB, Loughlin J, Bos SD, Doherty M, Doherty S, Gomez-Reino JJ, Gonzalez A, Halldorsson BV, Hauksson VB, Hofman A, Hart DJ, Ikegawa S, Ingvarsson T, Jiang Q, Jonsdottir I, Jonsson H, Kerkhof HJM, Lane NE, Li J, Lories RJ, van Meurs JBJ, Näkki A, Nevitt MC, Rodriguez-Lopez J, Shi D, Slagboom PE, Stefansson K, Tsezou A, Wallis GA, Watson C, Spector TD, Uitterlinden AG, Valdes AM, Ioannidis JPA. Large-scale analysis of association between GDF5 (rs143383) and FRZB (rs7775 and rs288326) variants and hip, knee and hand osteoarthritis. Arthritis & Rheumatism 2009, 60(6), 1710-1721.
- Meulenbelt I, Chapman K, Dieguez-Gonzalez R, Shi DQ, Tsezou A, Dai J, Malizos KN, Kloppenburg M, Carr A, Nakajima M, van der Breggen R, Lakenberg N, Gomez-Reino JJ, Jiang Q, Ikegawa S, Gonzalez A, Loughlin J, Slagboom EP. Large replication study and meta-analyses of DVWA as an osteoarthritis susceptibility locus in European and Asian populations. Human Molecular Genetics 2009, 18(8), 1518-1523.
- Egli R, Southam L, Wilkins JM, Lorenzen I, Pombo-Suarez M, Gonzalez A, Carr A, Chapman K, Loughlin J. Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism. Arthritis & Rheumatism 2009, 60(7), 2055-2064.
- Rodriguez-Lopez J, Pombo-Suarez M, Loughlin J, Tsezou A, Blanco FJ, Meulenbelt I, Slagboom PE, Valdes AM, Spector TD, Gomez-Reino JJ, Gonzalez A. Association of a nsSNP in ADAMTS14 to some osteoarthritis phenotypes. Osteoarthritis and Cartilage 2009, 17(3), 321-327.
- Wilkins JM, Southam L, Mustafa Z, Chapman K, Loughlin J. Association of a functional microsatellite within intron 1 of the BMP5 gene with susceptibility to osteoarthritis. BMC Medical Genetics 2009, 10, 141.
- Fresquet M, Jackson GC, Loughlin J, Briggs MD. Novel mutations in exon 2 of MATN3 affect residues within the alpha-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3. Human Mutation 2008, 29(2), 330.
- Meulenbelt I, Min JL, Bos S, Riyazi N, Houwing-Duistermaat JJ, van der Wijk HJ, Kroon HM, Nakajima M, Ikegawa S, Uitterlinden AG, van Meurs JB, van der Deure WM , Visser TJ, Seymour AB, Lakenberg N, van der Breggen R , Kremer D, van Duijn CM, Kloppenburg M, Loughlin J, Slagboom PE. Identification of DIO2 as new susceptibility locus for symptomatic Osteoarthritis. Human Molecular Genetics 2008, 17(12), 1867-1875.
- Valdes AM, Loughlin J, Timms KM, van Meurs JJB, Southam L, Wilson SG, Doherty S, Lories RJ, Luyten FP, Gutin A, Abkevich V, Ge D, Hofman A, Uitterlinden AG, Hart DJ, Zhang F, Zhai G, Egli RJ, Doherty M, Lanchbury J, Spector TD. Genome-wide Association Scan Identifies a Prostaglandin-Endoperoxide Synthase 2 Variant Involved in Risk of Knee Osteoarthritis. American Journal of Human Genetics 2008, 82(6), 1231-1240.
- Rodriguez-Lopez J, Mustafa Z, Pombo-Suarez M, Malizos KN, Rego I, Blanco FJ, Tsezou A, Loughlin J, Gomez-Reino JJ, Gonzalez A. Genetic variation including nonsynonymous polymorphisms of a major aggrecanase, ADAMTS-5, in susceptibility to osteoarthritis. Arthritis & Rheumatism 2008, 58(2), 435-441.
- Chapman K, Takahashi A, Meulenbelt I, Watson C, Rodriguez-Lopez J, Egli R, Tsezou A, Malizos KN, Kloppenburg M, Shi D, Southam L, Breggen Rvander, Donn R, Qin J, Doherty M, Slagboom PE, Wallis G, Kamatani N, Jiang Q, Gonzalez A, Loughlin J, Ikegawa S. A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5' UTR of GDF5 with osteoarthritis susceptibility. Human Molecular Genetics 2008, 17(10), 1497-504.
- Gordon A, Southam L, Loughlin J, Wilson AG, Stockley I, Hamer AJ, Eastell R, Wilkinson JM. Variation in the secreted frizzled-related protein-3 gene and risk of Osteolysis and heterotopic ossification after total hip arthroplasty. Journal of Orthopaedic Research 2007, 25(12), 1665-1670.
- Valdes AM, Loughlin J, Oene MV, Chapman K, Surdulescu GL, Doherty M, Spector TD. Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee. Arthritis Rheum 2007, 56(1), 137-146.
- Nakamura T, Shi D, Tzetis M, Rodriguez-Lopez J, Miyamoto Y, Tsezou A, Gonzalez A, Jiang Q, Kamatani N, Loughlin J, Ikegawa S. Meta-analysis of association between the ASPN D-repeat and osteoarthritis. Human Molecular Genetics 2007, 16(14), 1676-81.
- Snelling S, Sinsheimer JS, Carr A, Loughlin J. Genetic association analysis of LRCH1 as an osteoarthritis susceptibility locus. Rheumatology 2007, 46(2), 250-252.
- Wilkins JM, Southam L, Price AJ, Mustafa Z, Carr A, Loughlin J. Extreme context specificity in differential allelic expression. Hum Mol Genet 2007, 16(5), 537-546.
- Southam L, Rodriguez-Lopez J, Wilkins JM, Pombo-Suarez M, Snelling S, Gomez-Reino JJ, Chapman K, Gonzalez A, Loughlin J. An SNP in the 5'-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage. Human Molecular Genetics 2007, 16(18), 2226-2232.
- Snelling S, Ferreira A, Loughlin J. Allelic expression analysis suggests that cis-acting polymorphism of FRZB expression does not contribute to osteoarthritis susceptibility. Osteoarthritis and Cartilage 2007, 15(1), 90-92.
- Loughlin J, Sinsheimer JS, Carr A, Chapman K. The CALM1 core promoter polymorphism is not associated with hip osteoarthritis in a United Kingdom Caucasian population. Osteoarthritis Cartilage 2006, 14(3), 295-298.
- Valdes AM, van Oene M, Hart DJ, Surdulescu GL, Loughlin J, Doherty M, Spector TD. Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women. Arthritis & Rheumatism 2006, 54(2), 533-539.
- Chapman K, Carr A, Loughlin J, Sinsheimer JS. Presence of a primary hip osteoarthritis susceptibility locus on chromosome 6: comment on the article by Meenagh et al. Arthritis Rheum 2006, 54(3), 1026-1027.
- Loughlin J. Osteoarthritis linkage scan: more loci for the geneticists to investigate. Annals of the Rheumatic Diseases 2006, 65(10), 1265-6.
- Loughlin J. The genetic epidemiology of human primary osteoarthritis: current status. Expert Reviews in Molecular Medicine 2005, 7(9), 1-12.
- Loughlin J, Carr A, Chapman K. The common HFE variants C282Y and H63D are not associated with primary OA of the hip or knee. Journal of Rheumatology 2005, 32(2), 391-2; author reply 392.
- Peach CA, Carr AJ, Loughlin J. Recent advances in the genetic investigation of osteoarthritis. Trends in Molecular Medicine 2005, 11(4), 186-191.
- Loughlin J. Polymorphism in signal transduction is a major route through which osteoarthritis susceptibility is acting. Current Opinion in Rheumatology 2005, 17(5), 629-633.
- Mustafa Z, Dowling B, Chapman K, Sinsheimer JS, Carr A, Loughlin J. Investigating the aspartic acid (D) repeat of asporin as a risk factor for osteoarthritis in a UK Caucasian population. Arthritis & Rheumatism 2005, 52(11), 3502-3506.
- Spencer JM, Loughlin J, Clipsham K, Carr AJ. Genetic background increases the risk of hip osteoarthritis. Clinical Orthopaedics and Related Research 2005, (431), 134-137.
- Kawahara C, Forster T, Chapman K, Carr A, Loughlin J. Genetic association analysis of the IGFBP7, ADAMTS3, and IL8 genes as the potential osteoarthritis susceptibility that maps to chromosome 4q. Annals of the Rheumatic Diseases 2005, 64(3), 474-476.
- Loughlin J. Crystals in hand. Arthritis Research & Therapy 2005, 7(5), 187-188.
- Southam L, Dowling B, Ferreira A, Marcelline L, Mustafa Z, Chapman K, Bentham G, Carr A, Loughlin J. Microsatellite association mapping of a primary osteoarthritis susceptibility locus on chromosome 6p12.3-q13. Arthritis & Rheumatism 2004, 50(12), 3910-3914.
- Loughlin J, Dowling B, Chapman K, Marcelline L, Mustafa Z, Southam L, Ferreira A, Ciesielski C, Carson DA, Corr M. Functional variants within the secreted frizzled-related protein 3 gene are associated with hip osteoarthritis in females. Proceedings of the National Academy of Sciences of the United States of America 2004, 101(26), 9757-9762.
- Forster T, Chapman K, Marcelline L, Mustafa Z, Southam L, Loughlin J. Finer linkage mapping of primary osteoarthritis susceptibility loci on chromosomes 4 and 16 in families with affected women. Arthritis & Rheumatism 2004, 50(1), 98-102.
- Loughlin J. Familial inheritance of osteoarthritis: documented family subsets. Clinical Orthopaedics and Related Research 2004, 427(supplement), S22-25.
- Forster T, Chapman K, Loughlin J. Common variants within the interleukin 4 receptor alpha gene (IL4R) are associated with susceptibility to osteoarthritis. Human Genetics 2004, 114(4), 391-395.
- Loughlin J. Genetics of osteoarthritis and potential for drug development. Current Opinion in Pharmacology 2003, 3(3), 295-299.
- Southam L, Chapman K, Loughlin J. Genetic association analysis of BMP5 as a potential osteoarthritis susceptibility gene. Rheumatology 2003, 42(7), 911-912.
- Bergink AP, van Meurs JB, Loughlin J, Arp PP, Fang Y, Hofman A, van Leeuwen JP, van Duijn CM, Uitterlinden AG, Pols HA. Estrogen receptor alpha gene haplotype is associated with radiographic osteoarthritis of the knee in elderly men and women. Arthritis & Rheumatism 2003, 48(7), 1913-1922.
- Loughlin J, Dowling B, Mustafa Z, Southam L, Chapman K. Refined linkage mapping of a hip osteoarthritis susceptibility locus on chromosome 2q. Rheumatology 2002, 41(8), 955-956.
- Loughlin J. Genome studies and linkage in primary osteoarthritis. Rheumatic Disease Clinics of North America 2002, 28(1), 95-109.
- Chapman K, Mustafa Z, Dowling B, Southam L, Carr A, Loughlin J. Finer linkage mapping of primary hip osteoarthritis susceptibility on chromosome 11q in a cohort of affected female sibling pairs. Arthritis & Rheumatism 2002, 46(7), 1780-1783.
- Loughlin J, Mustafa Z, Dowling B, Southam L, Marcelline L, Raina SS, Ala-Kokko L, Chapman K. Finer linkage mapping of a primary hip osteoarthritis susceptibility locus on chromosome 6. European Journal of Human Genetics 2002, 10(9), 562-568.
- Loughlin J, Dowling B, Mustafa Z, Chapman K. Association of the interleukin-1 gene cluster on chromosome 2q13 with knee osteoarthritis. Arthritis & Rheumatism 2002, 46(6), 1519-1527.
- Nentwich HA, Mustafa Z, Rugg MS, Marsden BD, Cordell MR, Mahoney DJ, Jenkins SC, Dowling B, Fries E, Milner CM, Loughlin J, Day AJ. A novel allelic variant of the human TSG-6 gene encoding an amino acid difference in the CUB module. Chromosomal localization, frequency analysis, modeling, and expression. Journal of Biological Chemistry 2002, 277(18), 15354-15362.
- Briggs MD, Mortier GR, Chapman K, Loughlin J, Grant ME, Chapman KL. Mutations in the vWFA domain of matrilin-3 cause multiple epiphyseal dysplasia. American Journal of Human Genetics 2001, 69(4, s), 189 abstract no. 69.
- Chapman KL, Mortier GR, Chapman K, Loughlin J, Grant ME, Briggs MD. Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. Nature Genetics 2001, 28(4), 393-396.
- Loughlin J. Genetic epidemiology of primary osteoarthritis. Current Opinion in Rheumatology 2001, 13(2), 111-116.
- Loughlin J, Mustafa Z, Smith A, Irven C, Carr AJ, Clipsham K, Chitnavis J, Bloomfield VA, McCartney M, Cox O, Sinsheimer JS, Sykes B, Chapman KE. Linkage analysis of chromosome 2q in osteoarthritis. Rheumatology 2000, 39(4), 377-381.
- Mustafa Z, Chapman K, Irven C, Carr AJ, Clipsham K, Chitnavis J, Sinsheimer JS, Bloomfield VA, McCartney M, Cox O, Sykes B, Loughlin J. Linkage analysis of candidate genes as susceptibility loci for osteoarthritis-suggestive linkage of COL9A1 to female hip osteoarthritis. Rheumatology 2000, 39(3), 299-306.
- Loughlin J, Sinsheimer JS, Mustafa Z, Carr AJ, Clipsham K, Bloomfield VA, Chitnavis J, Bailey A, Sykes B, Chapman K. Association analysis of the vitamin D receptor gene, the type I collagen gene COL1A1, and the estrogen receptor gene in idiopathic osteoarthritis. Journal of Rheumatology 2000, 27(3), 779-784.
- Loughlin J, Dowling B, Mustafa Z, Smith A, Sykes B, Chapman K. Analysis of the association of the matrillin-1 gene (CRTM) with osteoarthritis: comment on the article by Meulenbelt et al. Arthritis Rheum 2000, 43(6), 1423-1425.
- Loughlin J, Mustafa Z, Irven C, Smith A, Carr AJ, Sykes B, Chapman K. Stratification analysis of an osteoarthritis genome screen-suggestive linkage to chromosomes 4, 6, and 16. American Journal of Human Genetics 1999, 65(6), 1795-1798.
- Chapman K, Mustafa Z, Irven C, Carr AJ, Clipsham K, Smith A, Chitnavis J, Sinsheimer JS, Bloomfield VA, McCartney M, Cox O, Cardon LR, Sykes B, Loughlin J. Osteoarthritis-susceptibility locus on chromosome 11q, detected by linkage. American Journal of Human Genetics 1999, 65(1), 167-174.
- Holden P, Canty EG, Mortier GR, Zabel B, Spranger J, Carr A, Grant ME, Loughlin JA, Briggs MD. Identification of novel pro-alpha 2(IX) collagen gene mutations in two families with distinctive olgo-epiphyseal forms of multiple epiphyseal dysplasia. American Journal of Human Genetics 1999, 65(1), 31-38.
- Oldridge M, Temple IK, Santos HG, Gibbons RJ, Mustafa Z, Chapman KE, Loughlin J, Wilkie AO. Brachydactyly Type B: Linkage to Chromosome 9q22 and Evidence for Genetic Heterogeneity. American Journal of Human Genetics 1999, 64(2), 578-585.
- Wilkin DJ, Szabo JK, Cameron R, Henderson S, Bellus GA, Mack ML, Kaitila I, Loughlin J, Munnich A, Sykes B, Bonaventure J, Francomano CA. Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. American Journal of Human Genetics 1998, 63(3), 711-6.
- Loughlin J, Irven C, Mustafa Z, Briggs MD, Carr A, Lynch S-A, Knowlton RG, Cohn DH, Sykes B. Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia. Human Mutation 1998, 10(1), S10-S17.
- Hurles ME, Irven C, Nicholson J, Taylor PG, Santos FR, Loughlin J, Jobling MA, Sykes BC. European Y-chromosomal lineages in Polynesians: a contrast to the population structure revealed by mtDNA. American Journal of Human Genetics 1998, 63(6), 1793-806.
- Chitnavis J, Sinsheimer JS, Clipsham K, Loughlin J, Sykes B, Burge PD, Carr AJ. Genetic influences in end-stage osteoarthritis. Sibling risks of hip and knee replacement for idiopathic osteoarthritis. Journal of Bone and Joint Surgery 1997, 79(4), 660-4.
- Spector TD, Cicuttini F, Baker J, Loughlin J, Hart D. Genetic influences on osteoarthritis in women: a twin study. British Medical Journal 1996, 312(7036), 940-943.
- Loughlin J, Irven C, Hardwick LJ, Butcher S, Walsh S, Wordsworth P, Sykes B. Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II). Human Molecular Genetics 1995, 4(9), 1649-51.
- Loughlin J, Irven C, Athanasou N, Carr A, Sykes B. Differential allelic expression of the type II collagen gene (COL2A1) in osteoarthritic cartilage. American Journal of Human Genetics 1995, 56(5), 1186-93.
- Loughlin J, Irven C, Fergusson C, Sykes B. Sibling pair analysis shows no linkage of generalized osteoarthritis to the loci encoding type II collagen, cartilage link protein or cartilage matrix protein. British Journal of Rheumatology 1994, 33(12), 1103-1106.
- Virdi AS, Loughlin JA, Irven CM, Goodship J, Sykes BC. Mutation screening by a combination of biotin-SSCP and direct sequencing. Human Genetics 1994, 93(3), 287-90.
- Briggs MD, Choi H, Warman ML, Loughlin JA, Wordsworth P, Sykes BC, Irven CM, Smith M, Wynne-Davies R, Lipson MH, et al. Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene. American Journal of Human Genetics 1994, 55(4), 678-84.
- Loughlin J, Irven C, Sykes B. Exclusion of the cartilage link protein and the cartilage matrix protein genes as the mutant loci in several heritable chondrodysplasias. Human Genetics 1994, 94(6), 698-700.
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Editorials
- Loughlin J. Three decades of osteoarthritis molecular genetics research: From early discussions to impressive breakthroughs. Osteoarthritis and Cartilage 2024, 32(4), 352-354.
- Yau M, Loughlin J. Towards precision medicine – is genetic risk prediction ready for prime time in osteoarthritis?. Arthritis & Rheumatology 2022, 74(9), 1477-1479.
- Almarza D, Cucchiarini M, Loughlin J. Genome editing for human osteoarthritis - a perspective. Osteoarthritis and Cartilage 2017, 25(8), 1195-1198.
- Loughlin J, Reynard LN. Osteoarthritis: Epigenetics of articular cartilage in knee and hip OA. Nature Reviews Rheumatology 2015, 11(1), 7-8.
- Loughlin J. Osteoarthritis: All types of trouble-defining OA in the genomic era. Nature Reviews Rheumatology 2011, 7(4), 200-202.
- Loughlin J. Knee osteoarthritis, lumbar-disc degeneration and developmental dysplasia of the hip - an emerging genetic overlap. Arthritis Research & Therapy 2011, 13(2), 108.
- Loughlin J. Genetics and osteoarthritis: implications for the clinic. International Journal Clinical Rheumatology 2009, 4(5), 499-501.
- Loughlin J, Chapman K. Big is beautiful. Osteoarthritis Cartilage 2008, 16(3), 277-278.
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Letters
- Loughlin J, Meulenbelt I, Min J, Mustafa Z, Sinsheimer JS, Carr A, Slagboom PE. Genetic association analysis of RHOB and TXNDC3 in osteoarthritis. American Journal of Human Genetics 2007, 80(2), 383-386; author reply 386-387.
- Southam L, Heath O, Chapman K, Loughlin J. Association analysis of the interleukin 17 genes IL17A and IL17F as potential osteoarthritis susceptibility loci. Annals of the Rheumatic Diseases 2006, 65(4), 556-557.
- Henderson S, Sillence D, Loughlin J, Bennetts B, Sykes B. Germline and somatic mosaicism in achondroplasia. Journal of Medical Genetics 2000, 37(12), 956-958.
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Note
- Chapman K, Loughlin J. Association of the interleukin-1 gene cluster with osteoarthritis of the hip: comment on the article by Meulenbelt et al and the letter by Smith et al. Arthritis & Rheumatism 2006, 54(11), 3722-3723.
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Reviews
- Reynard LN, Loughlin J. The genetics and functional analysis of primary osteoarthritis susceptibility. Expert Reviews in Molecular Medicine 2013, 15, e2-e16.
- Meulenbelt I, Kraus VB, Sandell LJ, Loughlin J. Summary of the OA biomarkers workshop 2010 – genetics and genomics: new targets in OA. Osteoarthritis and Cartilage 2011, 19(9), 1091-1094.
- Loughlin J. Genetics of osteoarthritis. Current Opinion in Rheumatology 2011, 23(5), 479-483.
- Ryder JJ, Garrison K, Song F, Hooper L, Skinner J, Loke Y, Loughlin J, Higgins JP, MacGregor AJ. Genetic associations in peripheral joint osteoarthritis and spinal degenerative disease: a systematic review. Annals of the Rheumatic Diseases 2008, 67(5), 584-91.
- Wilkins JM, Loughlin J, Snelling SJB. Osteoarthritis genetics: current status and future prospects. Future Rheumatology 2007, 2(6), 607-620.