Table 3

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

NMAF (%)p ValueOR (95% CI)
French replication cohort
 SSc1758.570.4101.21 (0.77 to 1.90)
 PAH–SSc758.670.5241.23 (0.66 to 2.29)
 SSc5428.760.8701.03 (0.75 to 1.40)
 PAH–SSc339.090.8811.07 (0.45 to 2.55)
Northern European
 SSc4558.460.9900.10 (0.77 to 1.30)
 PAH–SSc5911.020.3311.34 (0.74 to 2.41)
Eastern European
 SSc3445.960.5700.89 (0.58 to 1.35)
 PAH–SSc522.880.1320.42 (0.13 to 1.35)
Meta-analysis in the combined discovery and replication populations in an additive model
 SSc23408.440.1490.91 (0.80 to 1.04)
 PAH–SSc2739.520.1230.79 (0.59 to 1.07)
  • 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.