Genome-wide association study of knee pain identifies associations with GDF5 and COL27A1 in UK Biobank
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AbstractKnee pain is one of the most common musculoskeletal complaints that brings people to medical attention. Approximately 50% of individuals over the age of 50 report an experience of knee pain within the past 12 months. We sought to identify the genetic variants associated with knee pain in 171,516 subjects from the UK Biobank cohort and seek supporting evidence in cohorts from 23andMe, the Osteoarthritis Initiative, and the Johnston County Osteoarthritis Project. We identified two loci that reached genome-wide significance in the UK Biobank: rs143384, located in GDF5 (P = 1.32 × 10−12), a gene previously implicated in osteoarthritis; and rs2808772, located near COL27A1 (P = 1.49 × 10−8). These findings were supported in cohorts with self-reported osteoarthritis/radiographic knee osteoarthritis without pain information. In this report on genome-wide association of knee pain, we identified two loci in or near GDF5 and COL27A1 that are associated with knee pain. Copyright 2019, The Author(s).
DescriptionAn amendment to this paper has been published and can be accessed at https://doi.org/10.1038/s42003-020-0880-x
SponsorsThis work was supported by the STRADL project (Wellcome Trust, grant 104036/Z/14/Z), the DOLORisk project (Horizon 2020, grant 633491 and the GCRF academic exchange visits programme by the University of Dundee. The Osteoarthritis Initiative (OAI) was public-private partnership comprised of five contracts (N01-AR-2-2258; N01-AR-2-2259; N01-AR-2-2260; N01-AR-2-2261; N01-AR-2-2262) funded by the NIH. The Johnston County Osteoarthritis Study (JoCo) was supported in part by S043, S1734, & S3486 from the CDC/Association of Schools of Public Health; 5-P60-AR30701 & 5-P60-AR49465-03 from NIAMS/NIH; genotyping was supported by Algynomics Inc. Additional support was obtained from NIH grant P30-DK072488.
Identifier to cite or link to this itemhttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85071622640&doi=10.1038%2fs42003-019-0568-2&partnerID=40&md5=9de786c963e32b12d1d5499517a73ff9; http://hdl.handle.net/10713/10827