Combined effects of AKT serine/threonine kinase 1 polymorphisms and environment on congenital heart disease risk: A case-control study

Abstract

This study aimed to explore the combined association between AKT serine/threonine kinase 1 (AKT1) polymorphisms and congenital heart disease (CHD) risk, meanwhile, the role of AKT1 single polymorphism on CHD was also analyzed. In the first, AKT1 polymorphisms were genotyped in 130 CHD patients and 145 healthy people with the way of polymerase chain reaction-direct sequencing. The clinical data and genotypes, alleles between 2 groups were compared by χ2 test and the genotype distributions in the control group were checked by Hardy-Weinberg equilibrium. The relative risk strength of disease based on genetic variant was revealed using odds ratio (OR) with 95% confidence interval (95%CI). In 3 polymorphisms of AKT1 (rs1130214, rs2494732, rs3803300), the GT/TT genotype of rs1130214 in cases and controls had a significant frequency difference (P=.04) and was 1.71 times risk developing CHD, compared with AA (OR=1.71, 95%CI=1.02-2.86), and T allele had 1.63 times risk for carriers (OR=1.63, 95%CI=1.05-2.54). Similarly, both rs3803300 GG genotype and G allele had obvious differences between case and control groups (P