Abstract
Genome-wide association studies have expanded our understanding of the genetic variation of hypertension. Hypertension and blood pressure are influenced by sex-specific differences; therefore, genetic variants may have sex-specific effects on phenotype. To identify the genetic factors influencing the sex-specific differences concerning hypertension, we conducted a heterogeneity analysis of a genome-wide association study (GWAS) on 13,926 samples from a Korean population. Using the Illumina exome chip data of the population, we performed GWASs of the male and female population independently and applied a statistical test that identified heterogeneous effects of the variants between the two groups. To gain information about the biological implication of the genetic heterogeneity, we used gene set enrichment analysis with GWAS catalog and pathway gene sets. The heterogeneity analysis revealed that the rs11066015 of ACAD10 was a significant locus that had sex-specific genetic effects on the development of hypertension. The rs2074356 of HECTD4 also showed significant genetic heterogeneity in systolic blood pressure. The enrichment analysis showed significant results that are consistent with the pathophysiology of hypertension. These results indicate a sex-specific genetic susceptibility to hypertension that should be considered in future genetic studies of hypertension.
Highlights
The main purpose of this study was to reveal differences in genetic susceptibility to hypertension based on sex, we first carried out an exome-wide association study (EWAS) for hypertension and Blood pressure (BP) in the total population
These findings suggest that the HECT domain E3 ubiquitin protein ligase 4 (HECTD4) gene has a sex-specific genetic effect in the development of hypertension
We identified loci genetically susceptible to hypertension that have different effects on hypertension between males and females using exome array data from a Korean population
Summary
Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations. Hypertension is a major global health challenge because of its high prevalence and complications including cardiovascular disease and premature death [1,2,3]. The development of hypertension has genetic susceptibility [4,5,6]. Genome-wide association studies (GWASs), in which hundreds of thousands of genetic variants are genotyped and analyzed for disease association, have revealed genes associated with hypertension [7]
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