Table 1.
Loci associated with osteoarthritis
| Locus | Chr | Nearest gene(s) | Effect allele | Freq of effect allele in controls | OR for effect allele (95% CI) | P-value | Reference |
|---|---|---|---|---|---|---|---|
| Genome-wide significant (or near significant) associations from arcOGEN* | |||||||
| rs6976/rs11177 | 3 | GLT8D1 GNL3 | T A | 0.37 0.38 | 1.12 (1.08–1.16) 1.12 (1.08–1.16) |
7.24 × 10−11
1.25 × 10−10 |
[9▪▪] |
| rs12107036 | 3 | TP63 | G | 0.52 | 1.21 (1.13–1.29) | 6.71 × 10−8 | [9▪▪] |
| rs10948172 | 6 | SUPT3H; CDC5L | G | 0.29 | 1.14 (1.09–1.20) | 7.92 × 10−8 | [9▪▪] |
| rs9350591 | 6 | FILIP1; SENP6 | T | 0.11 | 1.18 (1.12–1.25) | 2.42 × 10−9 | [9▪▪] |
| rs4836732 | 9 | ASTN2 | C | 0.47 | 1.20 (1.13–1.27) | 6.11 × 10−10 | [9▪▪] |
| rs10492367 | 12 | KLHDC5; PTHLH | T | 0.19 | 1.14 (1.09–1.20) | 1.48 × 10−8 | [9▪▪] |
| rs835487 | 12 | CHST11 | G | 0.34 | 1.13 (1.09–1.18) | 1.64 × 10−8 | [9▪▪] |
| rs8044769 | 16 | FTO | C | 0.50 | 1.11 (1.07–1.15) | 6.85 × 10−8 | [9▪▪] |
| Other established associations | |||||||
| rs143383** | 20 | GDF5 | T | 0.59–0.75 | 1.17 (1.12–1.23)** | 6.2 × 10−11 | [11] |
| rs10953541*** | 7q22 | DUS4L | G | 0.17 | 1.17 (1.11–1.24) | 9.2 × 10−9 | [12] |
| rs11842874 | 13 | MCF2L | A | 0.927 | 1.17 (1.11–1.23) | 2.1 × 10−8 | [13] |
arcOGEN, Arthritis Research UK Osteoarthritis Genetics; Chr, chromosome; CI, confidence interval; Freq, frequency; OR, odds ratio.
*
Table is modified from arcOGEN, 2012. Most current meta-analysis p-values are reported.
**
Value reported for knee osteoarthritis in meta-analysis with Whites and Asian cohorts. Association has been previously reported for hip osteoarthritis and in Asian cohorts [14–16].
***
Value reported for knee OA. Most significant signal is located in an LD block in 7q22 that also includes COG5, HBP1, PRKAR2B, GPR22, and BCAP29. Region is also associated with hand osteoarthritis [17].