SNP Risk Allele | Nearest Gene(s) | OR | p | Risk AF | Joint | Sex Specificity | Ethnic Group | Suggested Functional Relevance to OA |
---|---|---|---|---|---|---|---|---|
rs143383-T | GDF5 | 1.79 | 1.8 × 10−13 | 0.74 | Hip | Both | Asian | Affects chondrogenesis and joint element formation |
rs143383-T | GDF5 | 1.16 | 8.3 × 10−9 | N/A | Knee | Both | European | |
rs7639618-G | DVWA | 1.43 | 7.3 × 10−11 | 0.63 | Knee | Both | Asian | Involvement in metabolism of cartilage |
rs7775228-T | HLA-DQB1 | 1.34 | 2.4 × 10−8 | 0.62 | Knee | Both | Asian | Immunologic mechanisms involvement |
rs10947262-C | BTNL2 | 1.31** | 5.1 × 10−9** | 0.58** | Knee | Both | Asian, European | |
rs3815148-C* | COG5 | 1.14 | 8 × 10−8 | 0.23 | Knee | Both | European | Expression in OA joint environment |
rs4730250-G | DUS4L | 1.17 | 9.2 × 10−9 | 0.17 | Knee | Both | European | Expression in OA joint environment |
rs11842874-A | MCF2L | 1.17 | 2.1 × 10−8 | 0.93 | Knee and hip | Both | European | Affects nociception and skeletal system development |
rs12982744-C | DOT1L | 1.15† | 2.2 × 10−8† | 0.74‡ | Hip | Males | European | Affects skeletal development during growth |
rs6094710-A | NCOA3 | 1.28 | 7.9 × 10−9 | 0.04 | Hip | Both | European | Expression in OA cartilage, involvement in regulation of hormones associated with bone metabolism, role in chondrocyte mechanotransduction |
rs6976-T | GLT8D1 | 1.12 | 7.2 × 10−11 | 0.37 | Knee and hip | Both | European | Unknown |
rs11177-A | GNL3 | 1.12 | 1.3 × 10−10 | 0.38 | Knee and hip | Both | European | Unknown |
rs4836732-C | ASTN2 | 1.2 | 6.1 × 10−10 | 0.47 | Hip | Females | European | Unknown; regulates neuronal protein |
rs9350591-T | FILIP1, SENP6 | 1.18 | 2.4 × 10−9 | 0.11 | Hip | Both | European | Unknown; COL12A1 (close located) gene affects bone formation |
rs10492367-T | KLHDC5, PTHLH | 1.14 | 1.5 × 10−8 | 0.19 | Hip | Both | European | Affects skeletal development |
rs835487-G | CHST11 | 1.13 | 1.6 × 10−8 | 0.34 | Hip | Both | European | Implication in cartilage development |
rs12107036-G* | TP63 | 1.21 | 6.7 × 10−8 | 0.52 | Knee | Females | European | Unknown; involvement in facial shape development |
rs8044769-C* | FTO | 1.11 | 6.9 × 10−8 | 0.5 | Knee and hip | Females | European | Affects OA through obesity |
rs10948172-G* | SUPT3H, CDC5L | 1.14 | 7.9 × 10−8 | 0.29 | Knee and hip | Males | European | Unknown; RUNX2 (in LD and close located) gene has a regulatory role in bone development |
↵* SNP just below genome-wide significance.
↵** Values of combined replication.
↵† Values of combined datasets.
↵‡ Risk allele frequency in Europeans from the 1000 genomes database (www.1000genomes.org). OA: osteoarthritis; SNP: single-nucleotide polymorphism; AF: allele frequency; LD: linkage disequilibrium; N/A: not available.