open access

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Review Article
Published online: 2021-05-28
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A systematic review of nonsynonymous single nucleotide polymorphisms in the renin–angiotensin–aldosterone system

Tomasz Rechciński, Jarosław D. Kasprzak
DOI: 10.5603/CJ.a2021.0055
·
Pubmed: 34060646

open access

Ahead of print
Review articles
Published online: 2021-05-28

Abstract

In this recent publication review the authors aimed to collect evidence of impact of nonsynonymous single nucleotide polymorphisms (nsSNP) in the renin–angiotensin–aldosterone system on patients’ phenotype not only regarding arterial hypertension and its complications, but also the impact on other diseases of interest outside the field of cardiovascular medicine.

PubMed database records published between 2017–2020 were searched and all positive case-control studies or positive studies with human DNA were selected.

The search identified 104 articles, of which 22 were included on the basis of the inclusion criteria. This paper presents the impact of 44 nsSNPs in panels for genes of renin, angiotensinogen, angiotensin-converting enzyme, angiotensin receptor and aldosterone on the clinical picture of investigated cohorts or on the peptide-protein interactions as consequence of nsSNPs.

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 diseases.

Abstract

In this recent publication review the authors aimed to collect evidence of impact of nonsynonymous single nucleotide polymorphisms (nsSNP) in the renin–angiotensin–aldosterone system on patients’ phenotype not only regarding arterial hypertension and its complications, but also the impact on other diseases of interest outside the field of cardiovascular medicine.

PubMed database records published between 2017–2020 were searched and all positive case-control studies or positive studies with human DNA were selected.

The search identified 104 articles, of which 22 were included on the basis of the inclusion criteria. This paper presents the impact of 44 nsSNPs in panels for genes of renin, angiotensinogen, angiotensin-converting enzyme, angiotensin receptor and aldosterone on the clinical picture of investigated cohorts or on the peptide-protein interactions as consequence of nsSNPs.

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 diseases.

Get Citation

Keywords

nonsynonymous single nucleotide polymorphisms, renin–angiotensin–aldosterone system

About this article
Title

A systematic review of nonsynonymous single nucleotide polymorphisms in the renin–angiotensin–aldosterone system

Journal

Cardiology Journal

Issue

Ahead of print

Article type

Review Article

Published online

2021-05-28

DOI

10.5603/CJ.a2021.0055

Pubmed

34060646

Keywords

nonsynonymous single nucleotide polymorphisms
renin–angiotensin–aldosterone system

Authors

Tomasz Rechciński
Jarosław D. Kasprzak

References (30)
  1. Ji LD, Li JY, Yao BB, et al. Are genetic polymorphisms in the renin-angiotensin-aldosterone system associated with essential hypertension? Evidence from genome-wide association studies. J Hum Hypertens. 2017; 31(11): 695–698.
  2. Cunningham JM, Koytiger G, Sorger PK, et al. Biophysical prediction of protein-peptide interactions and signaling networks using machine learning. Nat Methods. 2020; 17(2): 175–183.
  3. Kelly TN, Li C, Hixson JE, et al. Resequencing study identifies rare renin-angiotensin-aldosterone system variants associated with blood pressure salt-sensitivity: the GenSalt study. Am J Hypertens. 2017; 30(5): 495–501.
  4. Yu S, Peng W, Zhang H, et al. The association between maternal and foetal REN gene polymorphisms and preeclampsia/eclampsia: A hybrid design study. Pregn Hypertens. 2019; 18: 150–155.
  5. Procopciuc LM, Nemeti G, Buzdugan E, et al. Renin-angiotensin system gene variants and risk of early- and late-onset preeclampsia: A single center case-control study. Pregn Hypertens. 2019; 18: 1–8.
  6. Goswami AM. Computational analyses prioritize and reveal the deleterious nsSNPs in human angiotensinogen gene. Comput Biol Chem. 2020; 84: 107199.
  7. Purkait P, Halder K, Thakur S, et al. Association of angiotensinogen gene SNPs and haplotypes with risk of hypertension in eastern Indian population. Clin Hypertens. 2017; 23: 12.
  8. Khatami M, Heidari MM, Haddadzadeh M, et al. Simultaneous Genotyping of the rs4762 and rs699 Polymorphisms in Angiotensinogen Gene and Correlation with Iranian CAD Patients with Novel Hexa-primer ARMS-PCR. Iran J Public Health. 2017; 46: 811–819.
  9. Moussa A, Triki S, Hamdouni H, et al. Genetic Variation in the Renin-Angiotensin System and Diabetic Nephropathy in the Tunisian Population. Clin Lab. 2017; 63(3): 469–477.
  10. Scurrah KJ, Lamantia A, Ellis JA, et al. Familial analysis of epistatic and sex-dependent association of genes of the renin-angiotensin-aldosterone system and blood pressure. Circ Cardiovasc Genet. 2017; 10(3).
  11. Wu Yu, Wang M, Zhang J, et al. A new model of the mechanism underlying lead poisoning: SNP in miRNA target region influence the AGT expression level. Hereditas. 2019; 156: 6.
  12. Lahtela E, Wennerström A, Pietinalho A. ACE gene variant and sarcoidosis in a Finnish population. Sarcoidosis Vasc Diffuse Lung Dis. 2017; 32: 104–114.
  13. Lahtela E, Wolin A, Pietinalho A, et al. Disease marker combination enhances patient characterization in the Finnish sarcoidosis patients. Respir Med. 2017; 132: 92–94.
  14. Zhao J, Zhang W, Shen Li, et al. Association of the ACE, GSTM1, IL-6, NOS3, and CYP1A1 polymorphisms with susceptibility of mycoplasma pneumoniae pneumonia in Chinese children. Medicine (Baltimore). 2017; 96(15): e6642.
  15. Feng W, Sun L, Qu XF. Association of AGTR1 and ACE2 gene polymorphisms with structural atrial fibrillation in a Chinese Han population. Pharmazie. 2017; 72(1): 17–21.
  16. Kumar A, Rani B, Sharma R, et al. ACE2, CALM3 and TNNI3K polymorphisms as potential disease modifiers in hypertrophic and dilated cardiomyopathies. Mol Cell Biochem. 2018; 438(1-2): 167–174.
  17. Moe SM, Long J, Schwantes-An THL, et al. Angiotensin-related genetic determinants of cardiovascular disease in patients undergoing hemodialysis. Nephrol Dial Transplant. 2019; 34(11): 1924–1931.
  18. Del Coso J, Gu Z, Gerile W, et al. Interindividual variation in cardiorespiratory fitness: a candidate gene study in han Chinese people. Genes (Basel). 2020; 11(5): 555.
  19. Zhang Qi, Cong M, Wang N, et al. Association of angiotensin-converting enzyme 2 gene polymorphism and enzymatic activity with essential hypertension in different gender: A case-control study. Medicine (Baltimore). 2018; 97(42): e12917.
  20. Fan Z, Wu G, Yue M, et al. Hypertension and hypertensive left ventricular hypertrophy are associated with ACE2 genetic polymorphism. Life Sci. 2019; 225: 39–45.
  21. Khalid Z, Naveed H. Identification of destabilizing SNPs in SARS-CoV2-ACE2 protein and spike glycoprotein: implications for virus entry mechanisms. J Biomol Struct Dyn. 2020 [Epub ahead of print]: 1–11.
  22. Christodoulou A, Bagli E, Gazouli M, et al. Genetic polymorphisms associated with the prevalence of retinal vein occlusion in a Greek population. Int Ophthalmol. 2019; 39(11): 2637–2648.
  23. Sethupathy P, Borel C, Gagnebin M, et al. Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes. Am J Hum Genet. 2007; 81(2): 405–413.
  24. Singh A, Srivastava N, Amit S, et al. Association of AGTR1 (A1166C) and ACE (I/D) Polymorphisms with Breast Cancer Risk in North Indian Population. Transl Oncol. 2018; 11(2): 233–242.
  25. Qian J, Zhong J, Yan M, et al. Modulation of aldosterone level by aldosterone synthase promoter polymorphism and association with eGFR decline in patients with chronic kidney disease. Discov Med. 2018; 26: 251–260.
  26. Zhang H, Li X, Zhou Li, et al. A novel haplotype of low-frequency variants in the aldosterone synthase gene among northern Han Chinese with essential hypertension. Medicine (Baltimore). 2017; 96(39): e8150.
  27. Kehra AV, Chaffin M, Aragam KG, et al. Genome-wide polygenic scores for common disease identify individuals with risk equivalent to monogenic mutations. Nat Genetics. 2018; 50: 1219–1224.
  28. Say YH. The association of insertions/deletions (INDELs) and variable number tandem repeats (VNTRs) with obesity and its related traits and complications. J Physiol Anthropol. 2017; 36(1): 25.
  29. Hasimu B, Nakayama T, Mizutani Y, et al. A novel variable number of tandem repeat polymorphism of the renin gene and essential hypertension. Hypertens Res. 2003; 26(6): 473–477.
  30. Singh KD, Karthikeyan M. Combined sequence and sequence-structure-based methods for analyzing RAAS gene SNPs: a computational approach. J Recept Signal Transduct Res. 2014; 34(6): 513–526.

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