Genetic associations with osteoarthritis established with genome-wide significance following replication in at least one independent dataset
SNP | Nearest* gene(s) | EA | EAF | OR, 95% CI | p Value | Site | Sex | Ethnic group | Source |
---|---|---|---|---|---|---|---|---|---|
rs143383† | GDF5 | T | 0.74 | 1.79,1.53 to 2.09 | 2×10−13 | Hip | Both | Asian | 11 |
rs143383† | GDF5 | T | NA | 1.16, 1.11 to 1.22 | 8.3×10−09 | Knee | Both | European | 13 |
rs7639618 | DVWA | G | 0.63 | 1.43, 1.28 to 1.59 | 7.3×10−11 | Knee | Both | Asian | 15 |
rs7775228‡ | HLA-DQB1 | T | 0.62 | 1.34, 1.21 to 1.49 | 2.4×10−08 | Knee | Both | Asian | 16 |
rs10947262‡ | BTNL2 | C | 0.58 | 1.31, 1.20 to 1.44 | 5.1×10−09 | Knee | Both | Asian and European | 16 |
rs3815148§ | COG5¶ | C | 0.23 | 1.14, 1.09 to 1.19 | 8×10−08 | Knee and hand | Both | European | 17 |
rs4730250§ | DUS4L¶ | G | 0.17 | 1.17, 1.11 to 1.24 | 9.2×10−9 | Knee | Both | European | 18 |
rs11842874 | MCF2L | A | 0.93 | 1.17, 1.11 to 1.23 | 2.1×10−08 | Knee and hip | Both | European | 19 |
rs6976** | GLT8D1†† | T | 0.37 | 1.12, 1.08 to 1.16 | 7.2×10−11 | Hip and knee | Both | European | 20 |
rs11177** | GNL3†† | A | 0.38 | 1.12, 1.08 to 1.16 | 1.3×10−10 | Hip and knee | Both | European | 20 |
rs4836732 | ASTN2 | C | 0.47 | 1.2, 1.13 to 1.27 | 6.1×10−10 | Hip | Females | European | 20 |
rs9350591 | FILIP1; SENP6 | T | 0.11 | 1.18, 1.12 to 1.25 | 2.4×10−09 | Hip | Both | European | 20 |
rs10492367 | KLHDC5; PTHLH | T | 0.19 | 1.14, 1.09 to 1.20 | 1.5×10−08 | Hip | Both | European | 20 |
rs835487 | CHST11 | G | 0.34 | 1.13, 1.09 to 1.18 | 1.6×10−08 | Hip | Both | European | 20 |
rs12107036 | TP63 | G | 0.52 | 1.21, 1.13 to 1.29 | 6.7×10−08 | Knee | Females | European | 20 |
rs8044769‡‡ | FTO | C | 0.5 | 1.11, 1.07 to 1.15 | 6.9×10−08 | Hip and knee | Females | European | 20 |
rs10948172 | SUPT3H; CDC5L | G | 0.29 | 1.14, 1.09 to 1.20 | 7.9×10−08 | Hip and knee | Males | European | 20 |
rs6094710 | NCOA3 | A | 0.04 | 1.28, 1.18 to 1.39 | 7.9×10−9 | Hip | Both | European | 22 |
rs12982744 | DOT1L | C | NA | 1.17, 1.11 to 1.23 | 7.8×10−9 | Hip | Males | European | 21 |
*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.