Comparative genetic analysis of different forms of low-renin arterial hypertension

Чихладзе, Н М; Samedova, Kh. F.; Судомоина, М. А.; Min, Ko; Koliadina, Ju. A.; Litonova, G.; Favorov, Alexander V.; Чазова, И Е; Фаворова, О. О.

doi:10.1134/s0026893308040067

Cited by 4 publications

(8 citation statements)

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“…36 Other studies also did not show the positive association between rs1800875 and hypertension among Japanese, Russian, and American populations. [37][38][39] In the present study, no significant difference was found between the case group and the control group in the genotype as well as allele distributions of rs1800875 in the Chinese Han population. This finding was consistent with previous results among other populations.…”

Section: Discussioncontrasting

confidence: 75%

Association of polymorphisms in prolylcarboxypeptidase and chymase genes with essential hypertension in the Chinese Han population

Yang

et al. 2012

J Renin Angiotensin Aldosterone Syst

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Introduction:The prolylcarboxypeptidase (PRCP) gene encodes a membrane protein that acts on angiotensin II (Ang II) and kallikrein to release vasoactive peptides. The chymase (CMA1) gene is important for Ang II generation. Therefore, the two genes might be involved in the pathogenesis of essential hypertension (EH). Materials and Methods: Eleven tag single nucleotide polymorphisms (SNPs) in the PRCP gene and four tag SNPs and G-1903A (rs1800875) polymorphism in the CMA1 gene were genotyped in the Chinese Han population (n=1020) using a polymerase chain reaction-restriction fragment length polymorphism method. Results: In the PRCP gene, single site analyses indicated that the rs7104980 G allele was a susceptible factor for EH (adjusted odds ratio (OR)=1.98, 95% confidence interval (CI) 1.62-2.43, p=0.3×10 -10 ). The protective effect of Hap3 GAGCACTAACA was observed without carrying the susceptible rs7104908 G allele (OR=0.67, 95% CI 0.56-0.81, p=0.3×10 -4 ) by haplotype analyses. In the case of the CMA1 gene, no associations with EH were found through single site analyses. However, haplotype analyses showed that Hap16 TTTA significantly increased the risk of EH with OR=3.15 (p=0.0002) which may be driven by interaction with a nearby SNP combination. Conclusions:The present results indicated PRCP rs7104980 can be considered as a marker for EH and Hap3 GAGCACTAACA (PRCP) and Hap16 TTTA (CMA1) might be associated with EH in Chinese Han population.

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Section: Discussioncontrasting

confidence: 75%

Association of polymorphisms in prolylcarboxypeptidase and chymase genes with essential hypertension in the Chinese Han population

Yang

et al. 2012

J Renin Angiotensin Aldosterone Syst

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“…The classical view of the RAS is that of an endocrine system in which AII is generated within the circulation and responsible for salt and water balance and blood pressure regulation via multiple target receptors (Figure 3). Multiple gene polymorphisms of RAS have been extensively examined for associations with hypertension in a large sample of sibling pairs 60. Tri-allelic gene ensembles were examined for predisposition to hypertension, with the D alleles of ACE and G of Chymase clearly linked to idiopathic hypertension with normal plasma renin and aldosterone levels.…”

Section: Discussionmentioning

confidence: 99%

“…The 2 main groups HC and anaphylaxis (with AACVS) were examined for tri-allelic patterns 60. The 27 gene combinations were generated, limiting reliable statistical analysis for all combinations together, Figure 2 shows the tri-allelic pattern for HC and anaphylaxis.…”

Section: Methodsmentioning

confidence: 99%

“…We have examined further our original study subjects for Angiotensinogen (AGT-polymorphism M235T) and Chymase (CMA1-1903-polymorphisms A/G) genes. We have linked these findings to their prior ACE genotype, to see if there is evidence for bi- or tri-allelic ensemble of genes that could be a host factor for angioedema and cardiovascular collapse in allergic reactions compared with atopics and healthy controls 60…”

Section: Introductionmentioning

confidence: 99%

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<p>IgE-Mediated Systemic Anaphylaxis And Its Association With Gene Polymorphisms Of ACE, Angiotensinogen And Chymase</p>

Varney

Nicholas

Warner

et al. 2019

JAA

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BackgroundThe renin-angiotensin system (RAS) protects the circulation against sudden falls in systemic blood pressure via generation of angiotensin II (AII). Previously, we demonstrated that patients with anaphylaxis involving airway angioedema and cardiovascular collapse (AACVS) had significantly increased “I” gene polymorphisms of the angiotensin-converting-enzymes (ACE). This is associated with lower serum ACE and AII levels and was not seen in anaphylaxis without collapse nor atopics and healthy controls.ObjectivesTo examine the angiotensinogen (AGT-M235T) and chymase gene (CMA-1 A1903G) polymorphisms in these original subjects.Method122 patients with IgE-mediated anaphylaxis, 119 healthy controls and 52 atopics had polymorphisms of the AGT gene and chymase gene examined by polymerase chain reactions and gel electrophoresis. Their previous ACE genotypes were included for the analysis.ResultsAGT-MM genes (associated with low AGT levels) were significantly increased in anaphylaxis (Terr’s classification). When combined with ACE, anaphylaxis showed increased MM/II gene pairing (p<0.0013) consistent with lower RAS activity. For chymase, there was increased pairing of MM/AG (p<0.005) and AG/II and AG/ID (p<0.0073) for anaphylaxis consistent with lower RAS activity. A tri-allelic ensemble of the 6 commonest gene combinations for the healthy controls and anaphylaxis confirmed this difference (p=0.0001); for anaphylaxis, genes were predominately MM/AG/II or ID, while healthy controls were DD/MT/AG or GG patterns.ConclusionOur gene polymorphisms show lower RAS activity for anaphylaxis especially AACVS. Animal models of anaphylaxis are focused on endothelial nitric oxide (eNO) which is shown to be the mediator of fatal shock and prevented by eNO-blockade. The interaction of AII and eNO controls the microcirculation in man. High serum AII levels reduce eNO activity, so higher RAS-activity could protect against shock. Our data shows low RAS activity in anaphylaxis especially AACVS, suggesting the influence of these genes on shock are via AII levels and its effects on eNO.

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“…Two groups of patients with clinically heterogeneous forms of the same diseases (e.g., arterial hypertension with and without hyperaldosteronism [69]) were compared in some cases. When studying the genetic susceptibility to arterial hypertension preceding the development of IS, the patients were at first divided into two subgroups in accordance with the hypertension level.…”

Section: Studies Performed Using Apsamplermentioning

confidence: 99%

A Polygenic Approach to the Study of Polygenic Diseases

2012

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Polygenic diseases are caused by the joint contribution of a number of independently acting or interacting polymorphic genes; the individual contribution of each gene may be small or even unnoticeable. The carriage of certain combinations of genes can determine the occurrence of clinically heterogeneous forms of the disease and treatment efficacy. This review describes the approaches used in a polygenic analysis of data in medical genomics, in particular, pharmacogenomics, aimed at identifying the cumulative effect of genes. This effect may result from the summation of gains of different genes or be caused by the epistatic interaction between the genes. Both cases are undoubtedly of great interest in investigating the nature of polygenic diseases. The means that allow one to discriminate between these two possibilities are discussed. The methods for searching for combinations of alleles of different genes associated with the polygenic phenotypic traits of the disease, as well as the methods for presenting and validating the results, are described and compared. An attempt is made to evaluate the applicability of the existing methods to an epistasis analysis. The results obtained by the authors using the APSampler software are described and summarized.

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Comparative genetic analysis of different forms of low-renin arterial hypertension

Cited by 4 publications

References 46 publications

Association of polymorphisms in prolylcarboxypeptidase and chymase genes with essential hypertension in the Chinese Han population

Association of polymorphisms in prolylcarboxypeptidase and chymase genes with essential hypertension in the Chinese Han population

<p>IgE-Mediated Systemic Anaphylaxis And Its Association With Gene Polymorphisms Of ACE, Angiotensinogen And Chymase</p>

A Polygenic Approach to the Study of Polygenic Diseases

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