Influence of Polymorphism of Vitamin D Receptor (Fok I) on Hypertension

Nunes, Ivone Freires de Oliveira Costa; Pinho, Flaviane Alves de; Cruz, Maria do Socorro Pires e; Paiva, Adriana de Azevedo; Carvalho, Cecília Maria Resende Gonçalves de

doi:10.1590/1678-4324-2020190403

Cited by 3 publications

(1 citation statement)

References 32 publications

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“…Fok I polymorphism can generate truncated proteins and is associated with an increased risk for hypertension. Fok I polymorphism is caused by a thymine-to-cytosine transition, which leads to a translational frameshift characterized by an extension of the open reading frame to the next initiation codon (ATG), resulting in the synthesis of a truncated 424-amino acid protein [16].…”

Section: Discussionmentioning

confidence: 99%

Association of Lipids’ Metabolism with Vitamin D Receptor (rs10735810, rs222857) and Angiotensinogen (rs699) Genes Polymorphism in Essential Hypertensive Patients

Repchuk

Sydorchuk²,

Fedoniuk

et al. 2021

Open Access Maced J Med Sci

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BACKGROUND: Cardiovascular (CV) diseases are the most spread cause of mortality in the world. Essential arterial hypertension (EAH), as a major risk factor for the development of CV diseases, is a multifactorial disease involving environmental and genetic factors together with risk-conferring behaviors. AIM: The purpose of this study was to analyze lipid metabolism changes in patients with EAH depending on the Vitamin D receptor (VDR rs2228570 (aka rs10735810)) and angiotensinogen (AGT rs699) genes polymorphism. MATERIALS AND METHODS: The single-stage study involved 100 patients suffering from Stage 2 EAH, 1–3 degrees of blood pressure increase, high and very high CV risks, 21% (21) men, and 79% (79) women. The average age of patients was 59.86 ± 6.22 years old. The control group included 60 practically healthy individuals of an appropriate age and sex distribution. To examine the VDR gene (rs10735810, rs2228570) and AGT gene (rs699) polymorphism, a qualitative real-time polymerase chain reaction was made. The lipid metabolism was studied by determining the blood plasma content of total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and triglycerides (TGs). RESULTS: Т allele of AGT gene is associated with reduced HDL-C level in men and increased TGs level in women. The EAH risk increases 4.5 times as much among the ТС-genotype carriers and lowered HDL-C level (odds ratio [OR] = 6.43; p = 0.01). The EAH risk increases as far as the HDL-C level reduction, irrespective of the VDR gene alleles condition 1.83 times (OR = 2.37; OR 95% confidence interval [CI]: 1.02–5.51; p = 0.04) and 1.9 times (OR=2.43; OR 95% CI: 0.99–5.97; p = 0.04). HDL-C reduction and LDL-C elevation in women increase the EAH risk 2.4 times (OR = 3.27; p = 0.01) and 1.24 times (OR = 3.67; p = 0.01), respectively. CONCLUSIONS: The EAH risk increases with a reduced HDL-C level in the TC genotype carriers of the AGT gene and irrespective of VDR gene polymorphic variants.

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Section: Discussionmentioning

confidence: 99%

Association of Lipids’ Metabolism with Vitamin D Receptor (rs10735810, rs222857) and Angiotensinogen (rs699) Genes Polymorphism in Essential Hypertensive Patients

Repchuk

Sydorchuk²,

Fedoniuk

et al. 2021

Open Access Maced J Med Sci

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Phenotypic manifestations of arterial hypertension according to polymorphism of vitamin D receptor gene

Repchuk¹,

Sydorchuk²

2021

Buk. Med. Herald

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Objective. To determine the phenotypic manifestations of essential arterial hypertension (EAH) according to the vitamin D receptor gene polymorphism (VDR rs10735810, rs2228570).Material and methods. The case-control study involved 100 patients with EAH stage II, 1-3 degrees of blood pressure (BP), high and very high cardiovascular risk, 21% (21) men, 79% (79) women. The mean age of patients was 59.86 ± 6.22 y.o. The control group consisted of 60 healthy individuals, comparable in age and gender. To study the VDR gene polymorphism (rs10735810, rs2228570) performed a qualitative polymerase chain reaction in real-time. Results. Almost half of the patients with elevated normal BP (44.4%) and 34% of patients with EAH 2-3 d. there is concomitant diabetes mellitus (DM) type 2, while for EAH 1 d. it is only 19%. Obesity of 1-3 degrees was shown in 53% of patients with EAH: average EAH of 1 d. - 21%, among the EAH 2-3 d. - 25%. In the control group, 16% suffered from obesity. The distribution of VDR gene polymorphism genotypes according to the presence of DM showed that it was present in 35% of patients with AA-genotype, which is 1.6 times more often than in patients with GG-genotype (22%). Most smokers among patients with GG-genotype (26%), which is twice as common as those with AA- and AG-genotype (13% and 14%, respectively). Obesity of 1-3 degrees most often met among carriers of GG-genotype - 74%, and in the control group 14%. An elevated level of waist-hip ratio (WHR) among women with EAH was in 80% of the AA-genotype carriers, in the control group, all women had normal values. In 76% of the AG-genotype carriers and in 81% of the GG-genotype carriers, the WHR was increased by 2.3 and 2.8 times, respectively, that in the control group. Deviations of systolic and diastolic BP according to the VDR gene polymorphic variants have not been established.Conclusions. The AA-genotype is associated with DM 2 and with elevated WHR in women; GG-genotype - with elevated BMI, especially in men.

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Association of AGTR1 (rs5186), VDR (rs2228570) genes polymorphism with blood pressure elevation in patients with essential arterial hypertension

et al. 2021

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Essential arterial hypertension (EAH) is a polygenic disease due to environmental, genetic, and epigenomic factors. The study aimed to establish the association of single nucleotide polymorphism (SNP) of AGTR1 (rs5186) and VDR (rs2228570) genes with the blood pressure (BP) elevation in EAH patients. 100 EAH subjects with hypertensive-mediated organ damaging (2nd stage), moderate, high, or very high cardiovascular risk were recruited into the case-control study. There were 70.83% females and 29.17% males, mean age 57.86±7.81 y.o. The control group included 60 healthy individuals of relevant age and gender distribution. Estimation of AGTR1 (rs5186) and VDR (rs2228570) gene polymorphism was performed by Real-Time Polymerase Chain Reaction. In EAH patients, the AGTR1 gene (rs5186) mutation occurs with a frequency of 2.78% in the absence of such among healthy individuals. The VDR (rs2228570) gene mutation occurs with a frequency of 23% cases. The C-allele carriers’ (AGTR1 gene) numbers with 2nd and 3rd BP values degree dominate over AA-genotype patients by 25.32% (χ2=4.52; р=0.033). VDR gene (rs2228570) polymorphic variants do not link to BP elevation values. Thus, the C-allele of the AGTR1 gene (rs5186) is associated with BP elevation in hypertensive patients. BP values do not depend on VDR gene (rs2228570) polymorphic variants.

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Influence of Polymorphism of Vitamin D Receptor (Fok I) on Hypertension

Cited by 3 publications

References 32 publications

Association of Lipids’ Metabolism with Vitamin D Receptor (rs10735810, rs222857) and Angiotensinogen (rs699) Genes Polymorphism in Essential Hypertensive Patients

Association of Lipids’ Metabolism with Vitamin D Receptor (rs10735810, rs222857) and Angiotensinogen (rs699) Genes Polymorphism in Essential Hypertensive Patients

Phenotypic manifestations of arterial hypertension according to polymorphism of vitamin D receptor gene

Association of AGTR1 (rs5186), VDR (rs2228570) genes polymorphism with blood pressure elevation in patients with essential arterial hypertension

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