Genome-wide association study of knee pain identifies associations with GDF5 and COL27A1 in UK Biobank

Commun Biol. 2019 Aug 28;2:321. doi: 10.1038/s42003-019-0568-2. eCollection 2019.


Knee 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.

Keywords: Genome-wide association studies; Musculoskeletal system; Pain.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Biological Specimen Banks*
  • Case-Control Studies
  • Cohort Studies
  • Female
  • Fibrillar Collagens / genetics*
  • Gene Expression Regulation
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study*
  • Growth Differentiation Factor 5 / genetics*
  • Humans
  • Knee Joint / pathology*
  • Linkage Disequilibrium / genetics
  • Male
  • Middle Aged
  • Pain / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • United Kingdom


  • COL27A1 protein, human
  • Fibrillar Collagens
  • GDF5 protein, human
  • Growth Differentiation Factor 5

Associated data

  • figshare/10.6084/m9.figshare.9611198.v1