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Int. J. Mol. Sci. 2017, 18(6), 1131;

Is There a Role for Genomics in the Management of Hypertension?

Division of Internal Medicine and Hypertension, Department of Medical Sciences, University of Turin, 10126 Turin, Italy
Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Ludwig-Maximilians-Universität München, 80336 Munich, Germany
Author to whom correspondence should be addressed.
Academic Editor: Anastasia Susie Mihailidou
Received: 28 April 2017 / Revised: 20 May 2017 / Accepted: 21 May 2017 / Published: 26 May 2017
(This article belongs to the Section Molecular Pathology, Diagnostics, and Therapeutics)
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Hypertension (HTN) affects about 1 billion people worldwide and the lack of a single identifiable cause complicates its treatment. Blood pressure (BP) levels are influenced by environmental factors, but there is a strong genetic component. Linkage analysis has identified several genes involved in Mendelian forms of HTN and the associated pathophysiological mechanisms have been unravelled, leading to targeted therapies. The majority of these syndromes are due to gain-of-function or loss-of-functions mutations, resulting in an alteration of mineralocorticoid, glucocorticoid, or sympathetic pathways. The diagnosis of monogenic forms of HTN has limited practical implications on the population and a systematic genetic screening is not justifiable. Genome-wide linkage and association studies (GWAS) have identified single nucleotide polymorphisms (SNPs), which influence BP. Forty-three variants have been described with each SNP affecting systolic and diastolic BP by 1.0 and 0.5 mmHg, respectively. Taken together Mendelian inheritance and all GWAS-identified HTN-associated variants explain 2–3% of BP variance. Epigenetic modifications, such as DNA methylation, histone modification and non-coding RNAs, have become increasingly recognized as important players in BP regulation and may justify a further part of missing heritability. In this review, we will discuss how genetics and genomics may assist clinicians in managing patients with HTN. View Full-Text
Keywords: monogenic hypertension; genomics; genome-wide association studies; epigenetics; pharmacogenomics monogenic hypertension; genomics; genome-wide association studies; epigenetics; pharmacogenomics

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Burrello, J.; Monticone, S.; Buffolo, F.; Tetti, M.; Veglio, F.; Williams, T.A.; Mulatero, P. Is There a Role for Genomics in the Management of Hypertension? Int. J. Mol. Sci. 2017, 18, 1131.

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