Abstract
This chapter presents the evaluation of the impact of nonsynonymous single nucleotide polymorphisms (nsSNPs) in the renin-angiotensin-aldosterone system (RAAS) on patients’ phenotypes not only in regard to arterial hypertension and its complications, but also in regard to other conditions from the fields of interest outside cardiovascular medicine. The impact of nsSNPs in panels for the genes of renin, angiotensinogen, angiotensin-converting enzyme, angiotensin receptor and aldosterone synthase is presented here together with a clinical picture of the investigated cohorts and the impact of nsSNPs on peptide-protein interactions. The first figure in the chapter presents—in a simplified mode—the location of the described genes in the human karyogram, and the second one—the geographical distribution of the probands who participated in the studies described here. A synopsis of the clinical context of the investigated nsSNPs is presented in the table. Genetic variability in nsSNPs of the RAAS is involved in the pathogenesis of arterial hypertension and its complications, and surprisingly also in the pathogenesis of conditions not associated with elevated blood pressure, like neoplasms or inflammatory processes.
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Rechciński, T. (2023). Genetic Polymorphisms in the Renin-Angiotensin-Aldosterone System. In: Dhalla, N.S., Bhullar, S.K., Shah, A.K. (eds) The Renin Angiotensin System in Cardiovascular Disease. Advances in Biochemistry in Health and Disease, vol 24. Springer, Cham. https://doi.org/10.1007/978-3-031-14952-8_7
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