Characterization of soluble N-ethylmaleimide-sensitive factor attachment protein receptor gene STX18 variations for possible roles in congenital heart diseases
Many cell types are involved in the mammalian heart development, and any mistakes in the developmentprocess or in the cells may result in congenital heart malformations. Syntaxin18 (STX18) plays key roles in transporting vesicle membrane fusion with target compartments of cells and forms complexes with cell cycle-related proteins. In this work we found that variant rs12644497 near the 5’UTR and Exon1 of the STX18 gene was associated with the risk of CHD.