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Exploring hypertension genome‐wide association studies findings and impact on pathophysiology, pathways, and pharmacogenetics

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Hypertension is a major risk factor for global mortality. Recent genome‐wide association studies (GWAS) have led to successful identification of many genetic loci influencing blood pressure, although these studies account for less than 5% of heritability. While genetic discovery efforts continue, it is timely to pause and reflect on what information has been gained to date from reported loci. Knowledge from GWAS findings inform our understanding of the pathways and pleiotropy underpinning hypertension and aid in the identification of potential druggable targets. By reviewing blood pressure loci we aim to determine how much potential the current observations have for future clinical utility. WIREs Syst Biol Med 2015, 7:73–90. doi: 10.1002/wsbm.1290 This article is categorized under: Translational, Genomic, and Systems Medicine > Translational Medicine
‘Haplotype Plot at the UMOD Locus’: Haplotype block analysis (Haploview, Broad Institute) of SNPs within a 20 kb region either side of the hypertension GWAS SNP rs13333226 (blue square). The darker the square, the stronger the LD (r2 denoted within square; r2 = 1 in solid black squares). Any potential functional SNP(s) are likely to be situated within the LD block (red‐black dotted line). The SNP rs4293393 associated with promoter activity and UMOD transcript levels is indicated in the green square.
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The relationship between BP loci risk scores and SBP in BRIGHT: This plot illustrates data from the British Genetics of Hypertension (BRIGHT) study (http://www.brightstudy.ac.uk), containing 1928 hypertensive subjects with available data. A histogram shows the frequency distribution of the risk scores for subjects. Risk scores are generated from the first published SNP within each validated locus from Table , calculating the number of SBP‐increasing risk alleles across all 64 SNPs, using GWAS data imputed to 1000 Genomes. The figure also includes a curve plotting the mean SBP (mmHg) within each risk score interval. BP, blood pressure; SBP, systolic BP.
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Genetic pleiotropy of blood pressure‐associated loci: This figure illustrates variants which are associated to other phenotypes in addition to blood pressure and hypertension. The loci, in chromosomal order, plotted on the right hand side of the wheel correspond to the reported BP loci from Table . The phenotypes on the left hand side of the wheel have been arranged within clinical categories, and color coded, as shown in the legend. Each plotted connection between a locus and a phenotypic trait represents a reported association from the GWAS catalogue.
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