Association study of ALK1 rs2277382 with SSc and PAH–SSc in the second set of European Caucasian populations and combined analysis including the discovery and replication cohorts
| N | MAF (%) | p Value | OR (95% CI) | |
|---|---|---|---|---|
| French replication cohort | ||||
| SSc | 175 | 8.57 | 0.410 | 1.21 (0.77 to 1.90) |
| PAH–SSc | 75 | 8.67 | 0.524 | 1.23 (0.66 to 2.29) |
| Controls | 438 | 7.19 | NA | NA |
| Italians | ||||
| SSc | 542 | 8.76 | 0.870 | 1.03 (0.75 to 1.40) |
| PAH–SSc | 33 | 9.09 | 0.881 | 1.07 (0.45 to 2.55) |
| Controls | 479 | 8.56 | NA | NA |
| Northern European | ||||
| SSc | 455 | 8.46 | 0.990 | 0.10 (0.77 to 1.30) |
| PAH–SSc | 59 | 11.02 | 0.331 | 1.34 (0.74 to 2.41) |
| Controls | 1823 | 8.48 | NA | NA |
| Eastern European | ||||
| SSc | 344 | 5.96 | 0.570 | 0.89 (0.58 to 1.35) |
| PAH–SSc | 52 | 2.88 | 0.132 | 0.42 (0.13 to 1.35) |
| Controls | 389 | 6.68 | NA | NA |
| Meta-analysis in the combined discovery and replication populations in an additive model | ||||
| SSc | 2340 | 8.44 | 0.149 | 0.91 (0.80 to 1.04) |
| PAH–SSc | 273 | 9.52 | 0.123 | 0.79 (0.59 to 1.07) |
| Controls | 4068 | 7.72 | NA | NA |
Northern European: Germany and Poland; Eastern European: Greece, Hungary, Romania, Serbia.
MAF, minor allele frequency; NA, not applicable; PAH, pulmonary arterial hypertension; SSc, systemic sclerosis.