• Jianxun Zhao and Zhi Zeng.
• Department of Cardiology.
• Medicine (Baltimore). 2020 Jun 26; 99 (26): e20400.

AbstractThis 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 χ 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 < .05) and it was closely associated with CHD susceptibility. At the same time, the combined effects of rs1130214, rs3803300 and family history, smoking were found in our study.AKT1 rs1130214, rs3803300 polymorphisms are associated with the increased susceptibility to CHD. Environmental factors are found the interaction with AKT1 polymorphisms. Further study is needed to verify this conclusion.

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