Association of two variants in SMAD7 with the risk of congenital heart disease in the Han Chinese population.

ABSTRACT: SMAD7 is a general antagonist of TGF-β signaling and has been found to be involved in cardiogenesis in mouse models, but its role in human congenital heart disease (CHD) has yet to be investigated. To examine if SMAD7 is associated with CHD, we conducted a case-control study in the Han Chinese population. Exon1 and exon4 of SMAD7, which encode the functional MH1 and MH2 domains, were directly sequenced in 1,201 sporadic CHD patients and 1,116 control individuals. A total of 18 sequence variations were identified. Two common variants rs3809922 and rs3809923 are located at exon4 of SMAD7, and were found in strong linkage disequilibrium with each other (r² = 0.93). We analyzed the association of these two loci with CHD in 3 independent subgroup case-control studies, and found that in some sub

SUBMITTER: Wang E 

PROVIDER: S-EPMC3764115 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature