Table 2.
Replication and pooled analysis of the PTPN22 rs2476601 variant in Caucasian biopsy-proven GCA patients and controls.
| Genotype, N (%) |
Allele test |
||||||
|---|---|---|---|---|---|---|---|
| Population | Subgroup (N) | 1/1 | 1/2 | 2/2 | MAF (%) | P-value* | OR [CI 95%]** |
| Germany | Controls (n=937) | 9 (0.98) | 164 (17.94) | 741 (81.07) | 9.96 | ||
| GCA (n=72) | 0 (0.00) | 14 (19.44) | 58 (80.56) | 9.72 | 0.9280 | 0.97 [0.54-1.73] | |
|
| |||||||
| Norway | Controls (n=271) | 1 (0.37) | 56 (20.66) | 214 (78.97) | 10.70 | ||
| GCA (n=60) | 1 (1.67) | 19 (31.67) | 40 (66.67) | 17.50 | 0.0376 | 1.77 [1.03-3.05] | |
|
| |||||||
| UK | Controls (n=5199) | 42 (0.80) | 933 (17.95) | 4224 (81.25) | 9.78 | ||
| GCA (n=156) | 3 (1.92) | 36 (23.08) | 117 (75.00) | 13.46 | 0.0319 | 1.44 [1.03-2.00] | |
|
| |||||||
| Replication meta-analysis*** | Controls (n=6384) | 52 (0.81) | 1153 (18.06) | 5179 (81.12) | 9.84 | ||
| GCA (n=288) | 4 (1.39) | 69 (23.96) | 215 (74.65) | 13.37 | 0.0154 | 1.38 [1.07-1.77] | |
|
| |||||||
| Overall meta-analysis**** | Controls (n=8113) | 65 (0.80) | 1353 (16.68) | 6695 (82.52) | 9.14 | ||
| GCA (n=911) | 8 (0.88) | 188 (20.64) | 715 (78.49) | 11.20 | 2.00E-06 | 1.51 [1.28-1.79] | |
*
All P-values have been calculated for the allelic model.
**
Odds ratio for the minor allele.
***
Including independent cohorts from Germany, Norway and UK
****
Including independent cohorts from Spain, Germany, Norway and UK