Key result
Combined interaction of three ACE gene variants links to essential hypertension despite no individual associations.
Why the study?
The pathogenesis of essential hypertension is complex and not fully elucidated, prompting investigation into interactions among ACE gene polymorphisms.
Are interactions among ACE gene polymorphisms associated with essential hypertension in patients in the Hefei region, China?
Case-Control (n=500)
Are interactions among ACE gene polymorphisms associated with essential hypertension in patients in the Hefei region, China?
There is an interaction effect among specific ACE gene loci (rs4291, rs4309, and rs4461142) associated with essential hypertension in patients from the Hefei region of China.
ACE polymorphism interactions may contribute to hypertension risk; hypothesis-generating and should not yet change practice.
Objective: Essential hypertension (EH) is a common cardiovascular disease that endangers human health. Its pathogenesis is complex and has not been fully elucidated. We explore the association between EH and interactions among polymorphisms of the angiotensin converting enzyme (ACE) gene in the Hefei region, Anhui, China. Methods: A total of 500 participants (400 hypertensive and 100 normotensive) were included in this study. The polymorphisms were detected via improved multiple ligase detection reaction (iMLDR). To improve the accuracy of prediction, multifactor dimensionality reduction (MDR) was used to analyze the overall effect of interactions among seven loci on the incidence of EH. Results: The frequencies of polymorphisms in the ACE genes rs12709426, rs4291, rs4309, rs4331, rs4343, rs4459609, and rs4461142 in the EH group were not statistically significantly different from those in the control group. We also found that the single nucleotide polymorphism (SNP) rs12709426 only had a homozygous AA genotype and no polymorphisms. There were no differences in the frequency of genetic polymorphisms between the EH and control groups. The best model explaining the EH group was the combined effect of ACE genes rs4291, rs4309, and rs4461142. Conclusion: There is an interaction effect among ACE gene loci in EH patients in Hefei region, Anhui, China. Also, the ACE gene SNP rs12709426 only has a homozygous AA genotype and does not show an association with EH.
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Wang et al. (2023) conducted a case-control in Essential hypertension (n=500). ACE gene polymorphisms vs. Normotensive controls was evaluated on Incidence of essential hypertension. Individual ACE gene polymorphisms showed no significant association with essential hypertension, but the combined interaction of rs4291, rs4309, and rs4461142 best explained the disease model.
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