Distribution of theCYP1B1 Asn453Ser (453 N/S) genotypes according to familial pulmonary arterial hypertension phenotype: affected (AMCs) and unaffected BMPR2 mutation carriers (UMCs)
AMC | UMC | p-value | |
Females | |||
N/N | 46 (74) | 10 (42) | 0.005 |
N/S or S/S | 16 (26) | 14 (58) | |
Total | 62 (100) | 24 (100) | |
Males | |||
N/N | 18 (60) | 17 (71) | 0.407 |
N/S or S/S | 12 (40) | 7 (29) | |
Total | 30 (100) | 24 (100) |
Data are presented as n (%), unless otherwise stated.