Difference between revisions of "Hypergenes Study"
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<newstitle> Novel hypertension susceptibility locus in the promoter region of eNOS</newstitle> | <newstitle> Novel hypertension susceptibility locus in the promoter region of eNOS</newstitle> | ||
<teaser> | <teaser> | ||
| − | A genome-wide association study by the HYPERGENES Consortium unravelled a novel hypertension susceptibility locus in the promoter region of the eNOS gene and essential hypertension. The article appeared online in | + | A genome-wide association study by the HYPERGENES Consortium unravelled a novel hypertension susceptibility locus in the promoter region of the eNOS gene and essential hypertension. The article appeared online in <a href="http://hyper.ahajournals.org/content/early/2011/12/19/HYPERTENSIONAHA.111.181990.abstract?sid=8239fe92-5f2a-467e-9bc7-8790f71787f6">Hypertension</a> on 19 December 2011. |
<date>21 December 2011 — 11:30</date> | <date>21 December 2011 — 11:30</date> | ||
</teaser> | </teaser> | ||
Latest revision as of 16:19, 20 August 2012
The HYPERGENES Project investigated associations between genetic variants and essential hypertension pursuing a 2-stage study by recruiting cases and controls from extensively characterized cohorts recruited over many years in different European regions. The discovery phase consisted of 1,865 cases and 1,750 controls genotyped with 1M Illumina array. Best hits were followed up in a validation panel of 1,385 cases and 1,246 controls that were genotyped with a custom array of 14,055 markers. We identified a new hypertension susceptibility locus (rs3918226) in the promoter region of the endothelial NO synthase gene (odds ratio: 1.54 [95% CI: 1.37–1.73]; combined P=2.58E-13). A meta-analysis, using other in silico/de novo genotyping data for a total of 21,714 subjects, resulted in an overall odds ratio of 1.34 (95% CI: 1.25–1.44; P=1.03E-14). The quantitative analysis on a population-based sample revealed an effect size of 1.91 (95% CI: 0.16–3.66) for systolic and 1.40 (95% CI: 0.25–2.55) for diastolic blood pressure. We identified in silico a potential binding site for ETS transcription factors directly next to rs3918226, suggesting a potential modulation of endothelial NO synthase expression. Biological evidence links endothelial NO synthase with hypertension, because it is a critical mediator of cardiovascular homeostasis and blood pressure control via vascular tone regulation.
Salvi E, Kutalik Z, Glorioso N, Benaglio P, Frau F, Kuznetsova T, Arima H, Hoggart C, Tichet J, Nikitin YP, Conti C, Seidlerova J, Tikhonoff V, Stolarz-Skrzypek K, Johnson T, Devos N, Zagato L, Guarrera S, Zaninello R, Calabria A, Stancanelli B, Troffa C, Thijs L, Rizzi F, Simonova G, Lupoli S, Argiolas G, Braga D, D'Alessio MC, Ortu MF, Ricceri F, Mercurio M, Descombes P, Marconi M, Chalmers J, Harrap S, Filipovsky J, Bochud M, Iacoviello L, Ellis J, Stanton AV, Laan M, Padmanabhan S, Dominiczak AF, Samani NJ, Melander O, Jeunemaitre X, Manunta P, Shabo A, Vineis P, Cappuccio FP, Caulfield MJ, Matullo G, Rivolta C, Munroe PB, Barlassina C, Staessen JA, Beckmann JS, Cusi D
Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase.
Hypertension: 2012 Feb, 59(2);248-55
[PubMed:22184326]
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