Advances in genome-wide association studies on essential hyperten-sion

Abstract

Since the first genome-wide association study was reported in 2007, hypertension has attracted numerous studies to identify its genetic basis. The first part of the current review summarizes the genetic loci associated with blood pressure/ hypertension identified by genome-wide association studies (GWAS) from January 2007 to September 2011, by race and chromosomal location. In the second part, we stress several important points in GWAS methodology, for example, selecting high-quality phenotypes and using multi-stage study design to increase the power studies to identify loci with minor effect. For statistical analysis, besides multiple testing correction and replication of the GWAS that have been introduced in previous reviews, computer-based genotype imputation has been described for its advantages in compensating GWAS genotyping failures. Although GWAS identifies many unknown genetic variants and improves our understanding for the pathogenesis of hypertension, the loci related to blood pressure / hypertension are common sequence variations with minor effect. The association studies are difficult to be replicated in different populations. Further studies are expected including extensive functional studies and fine mapping using advanced techniques, such as whole genome exon sequencing and pathway analysis, as well as epigenetic study to elucidate the etiology of human essential hypertension.

The bioinformatic analysis of CFTR in essential hypertension

“…There is a large body of literature concerning essential hypertension and genetics. Padmanabhan et al found more than 100 single nucleotide polymorphisms (SNPs) and proved that these SNPs are associated with blood pressure regulation [5]. The method of the research is genome wide association studies, which allow us to suppose the function of genes by genome comparison and function net association.…”

“…The two variants in the first question are the key issues. Xu et al (2012) showed some of the key variants in essential hypertension [4]. Their research tests the correlation between the existence of a variant and the SBP (systolic blood pressure) or DBP (diastolic blood pressure).…”

Correlation between natriuretic peptide receptor C (NPR3) gene polymorphisms and hypertension in the Dai people of China

“…As technology has advanced, genome-wide association studies (GWASs) have gradually been applied to the analysis of complex diseases. A number of research institutes have conducted GWAS analyses of hypertension and have investigated the genetic etiology of hypertension at the level of whole genome (Xu and Yan, 2013). For example, the NPR3 gene encoding the natriuretic peptide receptor protein C has been demonstrated to be associated with the occurrence of hypertension in both European (International Consortium for Blood Pressure Genome-Wide Association Studies et al, 2011) and Asian populations (Kato et al, 2011) based on meta-analyses of GWASs.…”