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Title: Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis
Authors: Zengini E; Hatzikotoulas K; Tachmazidou I; Steinberg J; Hartwig FP; Southam L; Hackinger S; Boer CG; Styrkarsdottir U; Suveges D; Killian B; Gilly A; Ingvarsson T; Jonsson H; Babis GC; McCaskie A; Uitterlinden AG; van Meurs JBJ; Thorsteinsdottir U; Stefansson K; Smith GD; Wilkinson MJ
Year: 2018
Journal Title: Nature Genetics
Volume: 50
Page number start: 549
Page number end: 558
Abstract: Osteoarthritis is a common complex disease imposing a large public-health burden. Here, we performed a genome-wide association study for osteoarthritis, using data across 16.5 million variants from the UK Biobank resource. After performing replication and meta-analysis in up to 30,727 cases and 297,191 controls, we identified nine new osteoarthritis loci, in all of which the most likely causal variant was noncoding. For three loci, we detected association with biologically relevant radiographic endophenotypes, and in five signals we identified genes that were differentially expressed in degraded compared with intact articular cartilage from patients with osteoarthritis. We established causal effects on osteoarthritis for higher body mass index but not for triglyceride levels or genetic predisposition to type 2 diabetes
Division: Cancer Research Division
DOI: 10.1038/s41588-018-0079-y
Appears in Collections:Research Articles

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