2012
DOI: 10.1016/s0140-6736(12)60681-3
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Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study

Abstract: SummaryBackgroundOsteoarthritis is the most common form of arthritis worldwide and is a major cause of pain and disability in elderly people. The health economic burden of osteoarthritis is increasing commensurate with obesity prevalence and longevity. Osteoarthritis has a strong genetic component but the success of previous genetic studies has been restricted due to insufficient sample sizes and phenotype heterogeneity.MethodsWe undertook a large genome-wide association study (GWAS) in 7410 unrelated and retr… Show more

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Cited by 354 publications
(216 citation statements)
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“…2 The heritable component to OA susceptibility is estimated at 40%-65%, [3][4][5] however fewer than 20 robustly associated genetic loci have been identified to date explaining <10% of this heritability. [6][7][8][9][10][11][12][13][14][15][16][17][18] These candidate gene and genome-wide association studies (GWAS) used a simple dichotomous description of joint involvement that does not reflect the heterogeneity of OA biology, 19 with the exception of the DOT1L association with hip OA in men that was made by measurement of cartilage thickness. 20 OA endophenotypes may be characterised on plain radiographs by the pattern of joint involvement and by the bone remodelling response to the disease.…”
Section: Introductionmentioning
confidence: 99%
See 1 more Smart Citation
“…2 The heritable component to OA susceptibility is estimated at 40%-65%, [3][4][5] however fewer than 20 robustly associated genetic loci have been identified to date explaining <10% of this heritability. [6][7][8][9][10][11][12][13][14][15][16][17][18] These candidate gene and genome-wide association studies (GWAS) used a simple dichotomous description of joint involvement that does not reflect the heterogeneity of OA biology, 19 with the exception of the DOT1L association with hip OA in men that was made by measurement of cartilage thickness. 20 OA endophenotypes may be characterised on plain radiographs by the pattern of joint involvement and by the bone remodelling response to the disease.…”
Section: Introductionmentioning
confidence: 99%
“…28 33 The risk of severe hip OA is threefold greater in siblings of index cases with an atrophic pattern of hip OA compared with siblings whose index case had a normotrophic or hypertrophic bone remodelling response. 27 Here, we applied these clinically relevant radiographic endophenotypes to identify novel variants that associate with hip OA in a subset of subjects from the arcOGEN Study, 14 the largest hip and knee OA GWAS to date. We calculated the differences in statistical power achieved using this approach versus a simple dichotomous description of joint involvement.…”
Section: Introductionmentioning
confidence: 99%
“…Individuals from the WTCCC2 who were used as controls in the ImmunoChip study were identified using identity by descent calculation and removed. The arcOGEN cohort comprised 7,410 unrelated patients with severe osteoarthritis (OA) 23. We excluded arcOGEN cases from Nottingham because those patients had only provided informed consent for participation in studies related to OA.…”
Section: Methodsmentioning
confidence: 99%
“…Control data were available from both the WTCCC2, genotyped on Affymetrix version 6.0 and an Illumina 1.2M platform, and from arcOGEN samples, genotyped using Illumina Human610‐Quad BeadChips 23. Genotyping of anti‐CCP–negative RA cases in the replication cohort was performed using a Sequenom MassArray platform according to the manufacturer's instructions.…”
Section: Methodsmentioning
confidence: 99%
“…The common single nucleotide polymorphism (SNP) rs10948172 (A/G) has been associated with increased OA susceptibility in the UK GWAS arcOGEN study ( P  = 7 x 10 −8 ) (5). This variant marks a region of ∼570 kb of high linkage disequilibrium (LD) at chromosome 6p21.1, containing the genes SUPT3H and RUNX2 .…”
Section: Introductionmentioning
confidence: 99%