Association study of ALK1 rs2277382 and ENG rs35400405 SNP in the French discovery cohort
| N | MAF (%) | Fischer's p value | p-adj* | OR (95% CI) | ||
|---|---|---|---|---|---|---|
| ALK1 rs2277382 | SSc | 824 | 9.04 | 0.003 | 0.066 | 1.43 (1.13 to 1.81) |
| PAH–SSc | 54 | 12.9 | 0.0003 | 0.0066 | 2.13 (1.24 to 3.65) | |
| Controls | 939 | 6.50 | NA | NA | NA | |
| ENG rs35400405 | SSc | 822 | 2.49 | 0.26 | NS | 1.30 (0.82 to 2.05) |
| PAH–SSc | 54 | 3.64 | 0.22 | NS | 1.92 (0.67 to 5.49) | |
| Controls | 906 | 1.93 | NA | NA | NA |
ENG, endoglin gene; MAF, minor allele frequency; NA, not applicable; p-adj*, adjusted p value after Bonferroni correction for multiple SNP testing (n=22); PAH, pulmonary arterial hypertension; SNP, single-nucleotide polymorphism; SSc, systemic sclerosis.