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

2021 ◽  
Vol 25 (1(97)) ◽  
pp. 89-94
Author(s):  
Yu. Repchuk ◽  
L. Sydorchuk
Keyword(s):  
Vitamin D ◽  
Gene Polymorphism ◽  
Arterial Hypertension ◽  
Vitamin D Receptor ◽  
Receptor Gene ◽  
Control Group ◽  
Vitamin D Receptor Gene ◽  
Vdr Gene ◽  
Qualitative Polymerase Chain Reaction ◽  
Vdr Gene Polymorphism

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.

scholarly journals THE ASSOCIATION OF AРAI-POLYMORPHISM OF VITAMIN D RECEPTOR GENE (VDR) WITH DEVELOPMENT OF GENERALIZED PARODONTITIS IN UKRAINIAN POPULATION

2019 ◽  
Vol 72 (7) ◽  
pp. 1253-1257
Author(s):  
Ilia G. Fomenko ◽  
Viktoriia Yu. Harbuzova ◽  
Olha A. Obukhova ◽  
Vladislav V. Pohmura ◽  
Inna A. Plakhtiienko ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Receptor Gene ◽  
Smoking Habit ◽  
Binary Logistic Regression ◽  
Control Group ◽  
Vitamin D Receptor Gene ◽  
Vdr Gene ◽  
Comparison Groups ◽  
Relationship Of

Introduction: At present, it is believed that the genetic component is important in the pathogenesis of periodontitis. One of the candidate genes that are of major importance in the development of the disease is the vitamin D receptor gene (VDR). The association of its genetic polymorphisms, in particular Apal, with periodontitis in different populations of the world is proved. The aim: To study the association of the Apal-polymorphism VDR gene with the development of generalized periodontitis in the Ukrainian population. Materials and methods: Patient genotypes were determined by polymerase chain reaction with subsequent analysis of restriction fragment length (PCR-RFLP) from buccal epithelium 116 patients with generalized periodontitis (GP) and 67 individuals of control group. Statistical analysis was performed by using SPSS-17,0 program. Results: As a result of the performed studies, it was shown that in the group of patients with GP, the ratio of homozygous for the main allele (a/a), heterozygote (a/A) and homozygote for the minor allele (A/A) was 26 (22,4%), 62 (53,4%), 28 (24,2%), and in control group – 25 (37,3%), 27 (40,3%), 15 (22,4%), respectively. The distribution of genotypes in the comparison groups was not statistically significant (P = 0,084). By the method of binary logistic regression in the framework of the additive inheritance model (a/A vs a/a), a reliable relationship of the genotype with the Apal-polymorphism of the VDR gene was established with the development of generalized periodontitis (Р=0,029). It was shown that in heterozygotes (a/A) the risk of GP in 2,208 (95% CI = 1,084-4,496) times is higher than in homozygotes of the main allele (a/a). After adjusting for age, sex, smoking habit, BMI, the reliability of these results was maintained (P = 0,030). Conclusions: The ApaI-polymorphism of the VDR gene is associated with the development of generalized periodontitis in the Ukrainian population.

Vitamin D Receptor Gene Polymorphism as a Risk Factor for Chronic Periodontitis

2021 ◽  
Author(s):  
Nurlindah Hamrun ◽  
Muhammad Ruslin ◽  
Erni Marlina ◽  
Sri Oktawati ◽  
Takashi Saito ◽  
...  
Keyword(s):  
Vitamin D ◽  
Risk Factor ◽  
Gene Polymorphism ◽  
Vitamin D Receptor ◽  
Chronic Periodontitis ◽  
Control Group ◽  
Case Group ◽  
Vdr Gene ◽  
Vdr Gene Polymorphism ◽  
Vdr Gene Polymorphisms

Abstract Background: The aim of this study was to investigate vitamin D receptor (VDR) gene polymorphism as a risk factor associated with chronic periodontitis (CP) and to determine the effect of VDR gene polymorphism on phenotypic CP.Methods: This study is a case-control design that included 162 adults divided into two groups: patients with CP (case group) and patients without CP (control group). Venous blood and DNA were obtained from individual samples. The gene polymorphism was determined using Restricted Fragment Length Polymorphism-Polymerase Chain Reaction (RFLP-PCR) and DNA sequencing to identify endonuclease restrictions in exon 9 (TaqI). The data were analyzed using an independent t-test and Fisher’s exact test. The odds ratio (OR) was used to calculate the risk of VDR gene polymorphism in CP. Results: VDR gene polymorphism was detected in patients with CP and a TT genotype (86.4%), Tt genotype (12.4%), and tt genotype (1.2%). The case group with TT and Tt genotypes had an OR of 12.5 (95% CI:1.6–99.8) of having CP compared to the control group (P<0.05).Conclusions: VDR gene polymorphisms (the TT and Tt genotypes) are risk factors associated with individual susceptibility to CP.

scholarly journals Clinical significance of vitamin d receptor gene polymorphism in children with bronchial asthma

2021 ◽  
pp. 51-56
Author(s):  
N. L. Potapova ◽  
A. I. Markovskaya ◽  
I. N. Gaymolenko
Keyword(s):  
Vitamin D ◽  
Gene Polymorphism ◽  
Bronchial Asthma ◽  
Vitamin D Receptor ◽  
Receptor Gene ◽  
Pulmonary Ventilation ◽  
Control Group ◽  
Genotype Distribution ◽  
Vdr Gene ◽  
Asthma In Children

Introduction. The development of chronic allergic inflammation of the respiratory tract is determined by various genes. It is assumed that the clinical features of the course of bronchial asthma may be associated with singlet polymorphism of the vitamin D receptor.Аim. To analyze the frequency of occurrence of polymorphic variants of the VDR-63980G>A gene and evaluate their association with the features of the development and course of bronchial asthma in children.Materials and methods. To study the association of the VDR-63980G>A gene polymorphism with bronchial asthma in children, 154 patients with bronchial asthma aged 1 to 18 years and 116 healthy subjects were selected. The objective status of the patients was assessed with the clarification of the anamnesis, standard laboratory and instrumental examination. Single nucleotide substitutions were typed by polymerase chain reaction with real-time detection of the results. The genotype distribution was evaluated using the “Gen-Expert” program.Results. As a result of the association analysis, the relationship of VDR-63980G>A with bronchial asthma in children was established. The presence of genotype -63980AA of the VDR gene increases the risk of developing bronchial asthma in a child by 1.85 times (OR=1.85, [CI 1.02-3.38]; χ 2=4.22, p=0.04). The homozygous genotype -63980GG was more common in the control group – in 49.5% versus 45.4% against the sick children. The genotype of the minor homozygote -63980AA is associated with the early onset of the disease, pronounced obstructive pulmonary ventilation disorders.Conclusion. The association of genotype -63980AA of the VDR gene with the risk of asthma development in preschool children was revealed. 

scholarly journals Polymorphism of the vitamin D receptor gene in kazakh with bronchial asthma

2021 ◽  
pp. 240-245
Author(s):  
Zh. B. Dosimov ◽  
A. J. Dosimov ◽  
N. A. Gubai ◽  
W. M. Delyagin ◽  
S. V. Kim ◽  
...  
Keyword(s):  
Vitamin D ◽  
Bronchial Asthma ◽  
Vitamin D Receptor ◽  
Receptor Gene ◽  
Venous Blood ◽  
Control Group ◽  
Vitamin D Receptor Gene ◽  
Vdr Gene ◽  
Vdr Polymorphism ◽  
Significant Difference

Introduction. The polymorphism of the vitamin D receptor (VDR) gene is associated with bronchial asthma (BA). Based on this, studies on the prevalence of VDR polymorphism in representatives of different races and peoples with AD and in healthy people are timely.Aims. To determine the TaqI polymorphism of the vitamin D receptor gene (TT, TS and CC) in children and adolescents with a verified diagnosis of AD on the example of the Kazakh population of Western Kazakhstan.Materials and methods. The study involved 54 Kazakh children with BA (Me age 12.8 years, fluctuations range 5–17 years). The control group consisted of residents of the same region without BA: Kazakhs – 66 children, Russians – 40 children. In each of these groups, children were born in the third generation of families without mixed marriages. The examination was performed by collecting venous blood with the informed consent of the legal representative of the child/adolescent. The samples were stored at a temperature of -80 ºC until the start of the analysis with further DNA sequencing and PCR at the INVITRO laboratory.Results. In Kazakh children without BA TT alleles were recorded in 57.6%, TC – in 34.8%, CC – in 7.6%. In Russian children without BA, the TT allele was found in 35.0%, TC – 55.0%, CC – 10%. In children of Kazakhs with BA, the TT allele was in 74.0% of cases, TC in 26.0%, and CC was absent. The first stage of the study with a limited number of observations did not allow obtaining a statistically significant difference between the individual indicated groups. However, taking into account the probable protective effect of the CC allele, the differences in the frequency of the TT alleles and in total TC and CC and CC and in total TT and TC turned out to be significant: 0.000 and 0.030, respectively. When studying the distribution of alleles within the groups, it turned out that for Kazakhs in the control group and, especially, in AD, a decrease in the frequencies of TC alleles and, most clearly, CC alleles is typical.Conclusion. The protective value of the CC allele cannot be ruled out. But it is not yet possible to formulate a final opinion on the functional significance of polymorphism. Further research will help to understand the relationship between the structural features of the VDR and BA.

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