Table 1

Genetic associations with osteoarthritis established with genome-wide significance following replication in at least one independent dataset

SNPNearest* gene(s)EAEAFOR, 95% CIp ValueSiteSexEthnic groupSource
rs143383†GDF5T0.741.79,1.53 to 2.092×10−13HipBothAsian11
rs143383†GDF5TNA1.16, 1.11 to 1.228.3×10−09KneeBothEuropean13
rs7639618DVWAG0.631.43, 1.28 to 1.597.3×10−11KneeBothAsian15
rs7775228‡HLA-DQB1T0.621.34, 1.21 to 1.492.4×10−08KneeBothAsian16
rs10947262‡BTNL2C0.581.31, 1.20 to 1.445.1×10−09KneeBothAsian and European16
rs3815148§COG5C0.231.14, 1.09 to 1.198×10−08Knee and handBothEuropean17
rs4730250§DUS4LG0.171.17, 1.11 to 1.249.2×10−9KneeBothEuropean18
rs11842874MCF2LA0.931.17, 1.11 to 1.232.1×10−08Knee and hipBothEuropean19
rs6976**GLT8D1††T0.371.12, 1.08 to 1.167.2×10−11Hip and kneeBothEuropean20
rs11177**GNL3††A0.381.12, 1.08 to 1.161.3×10−10Hip and kneeBothEuropean20
rs4836732ASTN2C0.471.2, 1.13 to 1.276.1×10−10HipFemalesEuropean20
rs9350591FILIP1; SENP6T0.111.18, 1.12 to 1.252.4×10−09HipBothEuropean20
rs10492367KLHDC5; PTHLHT0.191.14, 1.09 to 1.201.5×10−08HipBothEuropean20
rs835487CHST11G0.341.13, 1.09 to 1.181.6×10−08HipBothEuropean20
rs12107036TP63G0.521.21, 1.13 to 1.296.7×10−08KneeFemalesEuropean20
rs8044769‡‡FTOC0.51.11, 1.07 to 1.156.9×10−08Hip and kneeFemalesEuropean20
rs10948172SUPT3H; CDC5LG0.291.14, 1.09 to 1.207.9×10−08Hip and kneeMalesEuropean20
rs6094710NCOA3A0.041.28, 1.18 to 1.397.9×10−9HipBothEuropean22
rs12982744DOT1LCNA1.17, 1.11 to 1.237.8×10−9HipMalesEuropean21
  • *Nearest gene(s) only shown.

  • †Summary statistics of the same SNP in separate studies in Asians and Europeans, respectively.

  • ‡SNPs in strong linkage disequilibrium.

  • §SNPS in strong linkage disequilibrium.

  • ¶chr7q22 locus encompasses more genes than shown here, for full details see Kerkhof et al17 and Day-Williams et al.19

  • **SNPs in strong linkage disequilibrium.

  • ††chr3p21.1 locus encompasses more genes than shown here, for full details see arcOGEN Consortium.20

  • ‡‡This signal was attenuated after BMI adjustment, suggesting that the FTO locus exerts its effect on OA through obesity.

  • BMI, body mass index; EA, Effect allele; EAF, effect allele frequency; OA, osteoarthritis; SNP, single nucleotide polymorphism.