CBLN2 rs2217560 G allele was associated with an increased risk of 1.97 in a GWAS for iPAH and fPAH,[2] which is in consistent with our result ( OR = 1.951, 95% CI = 1.116-3.412, P = 0.019).
Even though TGF-[sz] signaling pathway has been proved to play an important role in fPAH and iPAH onset, previous studies on SSc-PAH did not report an association.
Pulmonary arterial hypertension may be idiopathic and sporadic (IPAH), familial (
FPAH), or associated with (APAH) connective tissue diseases, congenital systemic to pulmonary shunts, portal hypertension, HIV, drugs including anorexigens or cocaine, and other disorders (Table 1).