Key Points
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Arterial hypertension is genetically complex, which explains why the identification of the underlying genes has not been as successful for hypertension as for other diseases
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Genetic investigation of well-defined endocrine forms of hypertension, in which stratification of patients into homogeneous cohorts is feasible, has provided substantial accomplishments in the field
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The prediction of adverse drug reactions and of blood pressure response to antihypertensive drugs through the identification of genetic markers is a highly promising field for personalized medicine
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Genetic testing will also enable the design of randomized controlled trials in smaller series of patients than currently necessary, with a concomitant decrease of costs and times from drug design to clinical use
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Genetic testing is already an option for different applications in the field of hypertension, for example in phaeochromocytomas and paragangliomas, familial hyperaldosteronism type 1 and other forms of endocrine hypertension
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Currently, the genes and types of mutation to be searched for should be decided at referral centres, in which experience with evaluation of secondary forms of hypertension and genetic testing are both available
Abstract
Studies involving adoptive families and twins have demonstrated the genetic basis of hypertension and shown that genetic factors account for about 40% of the variance in blood pressure among individuals. Arterial hypertension is genetically complex: multiple genes influence the blood pressure phenotype through allelic effects from single genes and gene–gene interactions. Moreover, environmental factors also modify the blood pressure phenotype. This complexity explains why the identification of the underlying genes has not been as successful in hypertension as in other diseases (such as type 1 and type 2 diabetes mellitus). The identification of the genetic determinants of hypertension has been most successful in endocrine forms of hypertension, which have well-defined phenotypes that permit a precise patient stratification into homogeneous cohorts. A promising area for the application of genetic testing to personalized medicine is the prediction of responses and adverse reactions to antihypertensive drugs. The identification of genetic markers of drug response will enable the design of randomized controlled trials in much smaller series of patients than is currently possible, decreasing the costs and times from drug design to clinical use and ultimately providing patients and doctors with a larger number of tools to combat hypertension, the most important risk factor for cardiovascular disease. This Review focuses on the rapidly developing field of genetic testing in patients with arterial hypertension.
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Acknowledgements
The authors thank the Foundation for Advanced Research in Hypertension and Cardiovascular Diseases (www.forica.it) and the FP7-funded COST ADMIRE network (BM1301), and acknowledge the support of Horizon2020 Grant SEP-210176891. This work was supported by The Foundation for Advanced Research in Hypertension and Cardiovascular Diseases, the Società Italiana dell'Ipertensione Arteriosa and the University of Padua, Italy.
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G.P.R. was responsible for conceiving, drafting and finalizing the manuscript. L.L. contributed to drafting the manuscript. G.C. and B.C. searched the literature, revised the manuscript and contributed to preparing the draft, correcting it and preparing the references.
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Rossi, G., Ceolotto, G., Caroccia, B. et al. Genetic screening in arterial hypertension. Nat Rev Endocrinol 13, 289–298 (2017). https://doi.org/10.1038/nrendo.2016.196
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DOI: https://doi.org/10.1038/nrendo.2016.196
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