Table 2.
Burden of deleterious rare alleles in PMR patients and controls.
| Case (2n = 56) | Control (2n = 77,444) | P | OR | 95%CI | Pc | |
|---|---|---|---|---|---|---|
| NLRP12 | 5 (8.9) | 1654 (2.1) | 0.0069 | 4.49 | (1.79–11.27) | 0.0415 |
| PLCG2 | 2 (3.6) | 474 (0.6) | 0.0466 | 6.01 | (1.46–24.74) | 0.2798 |
| NLRP3 | 1 (1.8) | 755 (1.0) | 0.4226 | 1.85 | (0.26–13.36) | NS |
| MEFV | 1 (1.8) | 430 (0.6) | 0.2683 | 3.26 | (0.45–23.59) | NS |
| NLRC4 | 0 (0.0) | 451 (0.6) | 1.0000 | 1.51 | (0.09–24.46) | NS |
| MVK | 0 (0.0) | 56 (0.1) | 1.0000 | 12.12 | (0.74–198.59) | NS |
| Multigene analysis | 9 (16.1) | 3820 (4.9) | 0.0016 | 3.69 | (1.81–7.54) | NA |
Allele frequencies are shown in parentheses (%). Deleterious rare allele frequencies of PMR patients were compared with those of Japanese population controls by Fisher's exact test using 2 × 2 contingency tables under the allele model. The corrected P (Pc) value was calculated for the correction of multiple testing by the Bonferroni method.
PMR polymyalgia rheumatica, OR odds ratio, CI confidence interval, NS not significant, NA not applicable.