SNPs rs10224002 in PRKAG2 may disturb gene expression and consequently affect hypertension

Genome-wide association studies have identified a large number of genetic loci for blood pressure in European populations. The associations in other populations are needed to determine. The purpose of this study was to examine the associations between the single nucleotide polymorphisms (SNPs) identified in European populations and hypertension in the Chinese Han population, and highlight the potential roles. Seven tag-SNPs were genotyped in 857 hypertension cases and 927 controls to test the associations. The intronic SNP rs10224002 ( PRKAG2 ) which could affect DNase and regulatory motif was associated with hypertension ( P = 0.024). This SNP was also found to be associated with coronary artery disease and stroke. We searched for potential functional variants by bioinformatics analysis and found various kinds of variants such as missense mutations, phosphorylation-related SNPs and SNPs that have regulatory potentials in the blood pressure loci. We performed expression quantitative trait locus (eQTL) and differential expression analyses for the identified variants and genes. eQTL analysis found that rs10224002 was associated with PRKAG2 gene expression in peripheral blood ( P = 0.0016). PRKAG2 was differentially expressed between hypertension cases and controls ( P = 0.0133), coronary artery disease cases and controls ( P = 0.02112) and stroke cases and controls ( P = 0.0059). Our study demonstrated that SNPs rs10224002 may be associated with hypertension in the Chinese Han population and PRKAG2 may play a role in the etiology of hypertension and cardiovascular diseases.