Genetic variants used to generate the genetic risk score
| Gene | SNP | DNA change | Reference | Trait associated | p Value in Caucasians | RAF controls (%) | Risk allele | Hip gene | Knee gene |
|---|---|---|---|---|---|---|---|---|---|
| GDF5 | rs143383 | T/C | Valdes et al11 | Knee OA | 8×10–9 | 61.9 | T | − | + |
| COG5* | rs4730250 | A/G | Evangelou et al12 | Knee OA | 9×10–9 | 19.3 | G | − | + |
| MCFL2 | rs11842874 | A/G | Day-Williams et al13 | Hip or knee OA | 9.2×10−9 | 91.5 | A | + | + |
| PTHLH* | rs10492367 | A/C | arcOGEN14 | Hip OA | 1.5×10−8 | 21.0 | A | + | − |
| SUPT3H | rs10948172 | G/A | arcOGEN14 | Hip or knee OA in men | 7.9×10−8 | 28.6 | G | + | + |
| TP63 | rs12107036 | A/G | arcOGEN14 | TKR in women | 6.7×10−8 | 53.6 | G | − | + |
| FILIP1* | rs9350591 | C/T | arcOGEN14 | THR | 2·42×10−9 | 10.9 | T | + | − |
| GLN3* | rs11177 | A/G | arcOGEN14 | Hip or knee OA | 7.24×10−11 | 39.0 | A | + | + |
| DOT1L | rs12982744 | C/G | Castaño-Betancourt et al15 | Minimum joint space width† | 1.1×10−11 | 60.2 | G | + | − |
| ASTN2 | rs4836732 | C/T | arcOGEN14 | THR | 6.1×10−10 | 49.7 | C | + | − |
| FTO | rs8044769 | C/T | arcOGEN14 | TKR in women | 6.8×10−8 | 51.3 | C | + | + |
| CHST11 | rs835487 | A/G | arcOGEN14 | THR | 1.6×10−8 | 34.0 | G | + | − |
*For conciseness only one of the genes in the region is shown. rs4730250 maps to a cluster of genes that comprises COG5, HBP1, GPR22,PRKAR2B, DUS4L and BCAP29. rs10492367 maps between PTLHL and KLHDC5. rs9350591 maps between FILIP1 and SENP6. rs11177 maps to an amino-acid change within GLN3 but is in strong linkage disequilibrium (LD) with variants in the GLT8D1 gene.
†Association with hip OA reported is p<1.1×10−4.
OA, osteoarthritis; RAF, risk allele frequency; SNP, single nucleotide polymorphism; THR, total hip replacement; TKR, total knee replacement.