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Genome-wide association analysis of common genetic variants of resistant hypertension
Journal article   Open access   Peer reviewed

Genome-wide association analysis of common genetic variants of resistant hypertension

Nihal El Rouby, Caitrin W McDonough, Yan Gong, Leslie A McClure, Braxton D Mitchell, Richard B Horenstein, Robert L Talbert, Dana C Crawford, Matthew A Gitzendanner, Atsushi Takahashi, …
The pharmacogenomics journal, v 19(3)
Jun 2019
PMID: 30237584
url
https://doi.org/10.1038/s41397-018-0049-xView
Published, Version of Record (VoR) Open

Abstract

European Continental Ancestry Group - genetics Hispanic Americans - genetics Blood Pressure - genetics Humans Middle Aged Risk Factors Hypertension - drug therapy Male Antihypertensive Agents - therapeutic use Verapamil - therapeutic use Polymorphism, Single Nucleotide - genetics Female Aged Blood Pressure - drug effects Hypertension - genetics Genome-Wide Association Study - methods Odds Ratio
Resistant hypertension (RHTN), defined as uncontrolled blood pressure (BP) ≥ 140/90 using three or more drugs or controlled BP (<140/90) using four or more drugs, is associated with adverse outcomes, including decline in kidney function. We conducted a genome-wide association analysis in 1194 White and Hispanic participants with hypertension and coronary artery disease from the INternational VErapamil-SR Trandolapril STudy-GENEtic Substudy (INVEST-GENES). Top variants associated with RHTN at p < 10 were tested for replication in 585 White and Hispanic participants with hypertension and subcortical strokes from the Secondary Prevention of Subcortical Strokes GENEtic Substudy (SPS3-GENES). A genetic risk score for RHTN was created by summing the risk alleles of replicated RHTN signals. rs11749255 in MSX2 was associated with RHTN in INVEST (odds ratio (OR) (95% CI) = 1.50 (1.2-1.8), p = 7.3 × 10 ) and replicated in SPS3 (OR = 2.0 (1.4-2.8), p = 4.3 × 10 ), with genome-wide significance in meta-analysis (OR = 1.60 (1.3-1.9), p = 3.8 × 10 ). Other replicated signals were in IFLTD1 and PTPRD. IFLTD1 rs6487504 was associated with RHTN in INVEST (OR = 1.90 (1.4-2.5), p = 1.1 × 10 ) and SPS3 (OR = 1.70 (1.2-2.5), p = 4 × 10 ). PTPRD rs324498, a previously reported RHTN signal, was among the top signals in INVEST (OR = 1.60 (1.3-2.0), p = 3.4 × 10 ) and replicated in SPS3 (OR = 1.60 (1.1-2.4), one-sided p = 0.005). Participants with the highest number of risk alleles were at increased risk of RHTN compared to participants with a lower number (p-trend = 1.8 × 10 ). Overall, we identified and replicated associations with RHTN in the MSX2, IFLTD1, and PTPRD regions, and combined these associations to create a genetic risk score.

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Collaboration types
Domestic collaboration
International collaboration
Web of Science research areas
Genetics & Heredity
Pharmacology & Pharmacy
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