VITAMIN D AND UROLITHIASIS IN CHILDREN

Background. Urolithiasis is currently one of the topical issues of contemporary urology and medicine in general. This is primarily due to the high prevalence of urolithiasis; according to several population studies it ranges from 3.5 to 9.6%. At the same time, there is a steady increase in its incidence. Therefore, the matter of urolithiasis is one of the most urgent in present-day medicine. Objectives. The aim of the research was to study the content of a polymorphic genetic marker of the vitamin D receptor gene related to development and relapse of urolithiasis in children. Methods. The content of a polymorphic genetic marker of the vitamin D receptor gene related to development and relapse of urolithiasis in 100 children was investigated. Results. The results of the study prove that the vitamin D receptor gene assists in revealing disorders that promote urolithiasis development. Conclusion. Comparative analysis of the frequency of distribution of Fok1 genotypes of the vitamin D receptor gene polymorphism showed that statistical significance of the association (p=0.02) of f allele according to the dominant inheritance model (total Ff+ff genotypes) was established in the group of patients with urolithiasis compare to the corresponding indicator of the control group (63%).

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

Wiadomości Lekarskie ◽

10.36740/wlek201907105 ◽

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.

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

Bukovinian Medical Herald ◽

10.24061/2413-0737.xxv.1.97.2021.13 ◽

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.

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VITAMIN D RECEPTOR GENE POLYMORPHISMS AS A GENETIC MARKER FOR PROSTATE CANCER PREDISPOSITION

The Journal of Urology ◽

10.1097/00005392-199904010-00280 ◽

1999 ◽

pp. 69

Author(s):

Takehiro Suzuki ◽

Osamu Ogawa ◽

Shigeru Satoh ◽

Naotake Shimoda ◽

Toshiya Akao ◽

...

Keyword(s):

Prostate Cancer ◽

Vitamin D ◽

Genetic Marker ◽

Vitamin D Receptor ◽

Gene Polymorphisms ◽

Receptor Gene ◽

Cancer Predisposition ◽

Vitamin D Receptor Gene ◽

Receptor Gene Polymorphisms

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Prediagnostic Plasma 25-Hydroxyvitamin D and Pancreatic Cancer Survival

Journal of Clinical Oncology ◽

10.1200/jco.2015.66.3005 ◽

2016 ◽

Vol 34 (24) ◽

pp. 2899-2905 ◽

Cited By ~ 22

Author(s):

Chen Yuan ◽

Zhi Rong Qian ◽

Ana Babic ◽

Vicente Morales-Oyarvide ◽

Douglas A. Rubinson ◽

...

Keyword(s):

Pancreatic Cancer ◽

Vitamin D ◽

Plasma Level ◽

Vitamin D Receptor ◽

Statistical Significance ◽

Receptor Gene ◽

Vitamin D Receptor Gene ◽

Single Nucleotide ◽

Hydroxyvitamin D ◽

25 Hydroxyvitamin D

Purpose Although vitamin D inhibits pancreatic cancer proliferation in laboratory models, the association of plasma 25-hydroxyvitamin D [25(OH)D] with patient survival is largely unexplored. Patients and Methods We analyzed survival among 493 patients from five prospective US cohorts who were diagnosed with pancreatic cancer from 1984 to 2008. We estimated hazard ratios (HRs) for death by plasma level of 25(OH)D (insufficient, < 20 ng/mL; relative insufficiency, 20 to < 30 ng/mL; sufficient ≥ 30 ng/mL) by using Cox proportional hazards regression models adjusted for age, cohort, race and ethnicity, smoking, diagnosis year, stage, and blood collection month. We also evaluated 30 tagging single-nucleotide polymorphisms in the vitamin D receptor gene, requiring P < .002 (0.05 divided by 30 genotyped variants) for statistical significance. Results Mean prediagnostic plasma level of 25(OH)D was 24.6 ng/mL, and 165 patients (33%) were vitamin D insufficient. Compared with patients with insufficient levels, multivariable-adjusted HRs for death were 0.79 (95% CI, 0.48 to 1.29) for patients with relative insufficiency and 0.66 (95% CI, 0.49 to 0.90) for patients with sufficient levels (P trend = .01). These results were unchanged after further adjustment for body mass index and history of diabetes (P trend = .02). The association was strongest among patients with blood collected within 5 years of diagnosis, with an HR of 0.58 (95% CI, 0.35 to 0.98) comparing patients with sufficient to patients with insufficient 25(OH)D levels. No single-nucleotide polymorphism at the vitamin D receptor gene met our corrected significance threshold of P < .002; rs7299460 was most strongly associated with survival (HR per minor allele, 0.80; 95% CI, 0.68 to 0.95; P = .01). Conclusion We observed longer overall survival in patients with pancreatic cancer who had sufficient prediagnostic plasma levels of 25(OH)D.

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Study on vitamin D receptor gene polymorphisms in patients with urinary tract infections conducted in Northwestern Mexico

Revista Mexicana de Urología ◽

10.48193/rmu.v78i6.100 ◽

2018 ◽

Vol 78 (6) ◽

Author(s):

Denisse Stephania Becerra-Loaiza ◽

Jorge Guillermo Sánchez-Zazueta ◽

Luis Antonio Ochoa-Ramírez ◽

Ismael Velarde-Rodríguez ◽

José Rodríguez-Millán ◽

...

Keyword(s):

Vitamin D ◽

Urinary Tract Infection ◽

Urinary Tract ◽

Tract Infection ◽

Vitamin D Receptor ◽

Statistical Significance ◽

Receptor Gene ◽

Vitamin D Receptor Gene ◽

Cross Sectional ◽

Tract Infections

OBJECTIVE: To evaluate the influence of the polymorphisms of the vitamin D receptor gene (FokI: rs2228570, BsmI: rs1544410, ApaI: rs7975232, and TaqI: rs731236) on the clinical parameters of patients with urinary tract infections.MATERIALS AND METHODS: A comparative, prospective, and cross-sectional study was conducted at the Hospital General de Culiacán Dr. Bernardo J. Gastélum within the time frame of August 2016 to July 2017. The polymorphisms were detected through the polymerase chain reaction-restriction fragment length method in 119 patients diagnosed with urinary tract infection and in 206 individuals with no urinary tract infection. The data analysis was carried out using the c2 and odds ratio (OR) with a 95% confidence interval (95%CI). The logistic regression method, adjusted by age and sex, was employed to evaluate the relation between clinical characteristics and genotypes, utilizing the STATA version 13.0 program. Statistical significance was set at a p<0.05.RESULTS: We found differences in the prevalence of the CA-ApaI genotype between the study groups. The FokI and BsmI polymorphisms and the TGAT and CGCT haplotypes were associated with certain clinical characteristics.CONCLUSIONS: A possible link between the vitamin D receptor gene and bacterial urinary tract infection in a Mexican population was suggested.KEYWORDS: Vitamin D receptor; Urinary tract infection; Polymorphisms; Haplotypes.

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Association of vitamin D receptor gene TaqI, FokI and ApaI variants with arteriovenous fistula failure in hemodialysis patients

The Journal of Vascular Access ◽

10.1177/1129729817752860 ◽

2018 ◽

Vol 19 (3) ◽

pp. 303-310

Author(s):

Can Huzmeli ◽

Gokhan Bagci ◽

Ferhan Candan ◽

Binnur Bagci ◽

Lale Akkaya ◽

...

Keyword(s):

Vitamin D ◽

Arteriovenous Fistula ◽

Vitamin D Receptor ◽

Receptor Gene ◽

Hemodialysis Patients ◽

Control Group ◽

Vitamin D Receptor Gene ◽

Genotype Frequencies ◽

Significant Difference ◽

History Of

Purpose: We investigated the influence of the vitamin D receptor gene TaqI (rs731236), ApaI (rs7975232), and FokI (rs2228570) polymorphisms in arteriovenous fistula failure in hemodialysis patients. Methods: This study was carried out with 54 patients who experienced two or more fistula failures in the late period after arteriovenous fistula operation and 58 control patients with no history of arteriovenous fistula failure in 3 years or longer. The polymerase chain reaction–restriction fragment length polymorphism method was used to determine the vitamin D receptor TaqI, FokI, and ApaI polymorphisms. Results: For vitamin D receptor gene TaqI and Fok1 polymorphisms, no significant association was found between the two groups ( p > 0.05). However, a statistically significant association was determined for ApaI polymorphism between the two groups ( p = 0.02). In patients, ApaI AA, AC, and CC genotype frequencies were found as 21 (38.9%), 32 (59.3%), and 1 (1.8%), respectively. However, genotype frequencies of AA, AC, and CC in the control group were 29 (50%), 22 (37.9%), and 7 (12.1%), respectively. In all three polymorphisms, no significant difference was found between the two groups in terms of allele frequencies ( p > 0.05). Conclusion: Vitamin D receptor ApaI AC genotype may be a possible cardiovascular risk factor for the development of arteriovenous fistula failure.

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

Medical Council ◽

10.21518/2079-701x-2021-11-240-245 ◽

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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