scholarly journals The Role of Vitamin D Receptor Gene Polymorphisms in Colorectal Cancer Risk

Cancers ◽  
2020 ◽  
Vol 12 (6) ◽  
pp. 1379
Author(s):  
Ippokratis Messaritakis ◽  
Asimina Koulouridi ◽  
Maria Sfakianaki ◽  
Konstantinos Vogiatzoglou ◽  
Nikolaos Gouvas ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Vitamin D ◽  
Vitamin D Receptor ◽  
Bacillus Stearothermophilus ◽  
Receptor Gene ◽  
Stage Iv ◽  
Colorectal Carcinogenesis ◽  
Thermus Aquaticus ◽  
Vdr Gene

Vitamin D deficiency has been associated with increased colorectal cancer (CRC) incidence risk and mortality. Vitamin D mediates its action through the binding of the vitamin D receptor (VDR), and polymorphisms of the VDR might explain these inverse associations. The aim of the study was the investigation of the relevance of rs731236; Thermus aquaticus I (TaqI), rs7975232; Acetobacter pasteurianus sub. pasteurianus I (ApaI), rs2228570; Flavobacterium okeanokoites I (FokI) and rs1544410, Bacillus stearothermophilus I (BsmI) polymorphisms of the VDR gene to colorectal carcinogenesis (CRC) and progression. Peripheral blood was obtained from 397 patients with early operable stage II/III (n = 202) and stage IV (n = 195) CRC. Moreover, samples from 100 healthy donors and 40 patients with adenomatous polyps were also included as control groups. Genotyping in the samples from patients and controls was performed using polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP). A significant association was revealed between all four polymorphisms and cancer. Individuals with homozygous mutant (tt, aa, ff or bb) genotypes were more susceptible to the disease (p < 0.001). All of the mutant genotypes detected were also significantly associated with stage IV (p < 0.001), leading to significantly decreased survival (p < 0.001). Moreover, all four polymorphisms were significantly associated with KRAS (Kirsten ras oncogene) mutations and Toll-like receptor (TLR2, TLR4 and TLR9) genetic variants. In multivariate analysis, tt, aa and ff genotypes emerged as independent factors associated with decreased overall survival (OS) (p = 0.001, p < 0.001 and p = 0.001, respectively). The detection of higher frequencies of the VDR polymorphisms in CRC patients highlights the role of these polymorphisms in cancer development and progression.

scholarly journals The role of Vitamin D Receptor gene polymorphisms in colorectal cancer risk

2019 ◽  
Author(s):  
Ippokratis Messaritakis ◽  
Asimina Koulouridi ◽  
Maria Sfakianaki ◽  
Nikolaos Gouvas ◽  
Elias Athanasakis ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Vitamin D ◽  
Vitamin D Receptor ◽  
Receptor Gene ◽  
Stage Iv ◽  
Colorectal Carcinogenesis ◽  
Vdr Gene ◽  
Kras Mutations ◽  
Receptor Gene Polymorphisms

Abstract Background: Vitamin D deficiency has been associated with increased colorectal cancer (CRC) incidence risk and mortality. Vitamin D mediates its action through binding of the vitamin D receptor (VDR) and polymorphisms of the VDR might explain these inverse associations. Methods: The aim of the study was the investigation of TaqI, ApaI, FokI and BsmI polymorphisms of the VDR gene for their relevance to colorectal carcinogenesis and progression. Peripheral blood was obtained from 397 patients with early operable stage II/III (n=202) and stage IV (n=195) CRC. Moreover, samples from 100 healthy donors and 40 patients with adenomatous polyps were also included as control groups. Genotyping in samples from patients and controls was performed using PCR-RFLP. Results: A significant association revealed between all four polymorphisms and cancer. Individuals with homozygous mutant (tt, aa, ff or bb) genotype are more susceptible to the disease (p<0.001). All mutant genotypes detected were also significantly associated with the stage IV disease (p<0.001) leading to significantly decreased survival (p<0.001). Moreover, all four polymorphisms were significantly associated with KRAS mutations and with TLR2, TLR4 and TLR9 genetic variants. In multivariate analysis, tt, aa and ff genotypes emerged as independent factors associated with decreased OS (p=0.001, p<0.001 and p=0.001, respectively). Conclusions: The detection of higher frequencies of the VDR polymorphisms in CRC patients highlights the role of these polymorphisms in cancer development and progression.

scholarly journals Association of the polymorphism of the vitamin D receptor gene (VDR) with the risk of leprosy in the Brazilian Amazon

2021 ◽  
Author(s):  
Jasna Letícia Pinto Paz ◽  
Maria do Perpétuo Socorro Corrêa Amador Silvestre ◽  
Letícia Siqueira Moura ◽  
Ismari Perini Furlaneto ◽  
Yan Corrêa Rodrigues ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Genetic Factors ◽  
Receptor Gene ◽  
Mycobacterium Leprae ◽  
Nucleotide Polymorphisms ◽  
Vdr Gene ◽  
Single Nucleotide ◽  
The Relationship

The transmission and evolution of leprosy depends on several aspects, including immunological and genetic factors of the host, as well as genetic factors of Mycobacterium leprae. This study evaluated the association of single nucleotide polymorphisms (SNPs) on the FokI (rs2228570), TaqI (rs731236), ApaI (rs7975232) regions of the vitamin D receptor (VDR) gene with leprosy. A total of 405 individuals were evaluated, composed by groups of 100 multibacillary and 57 paucibacillary patients, and 248 healthy contacts. Blood samples were collected from patients and contacts. The genotyping was performed by sequencing of the interest regions. The alleles of the studied SNPs, and of SNP FokI genotypes, were not associated with leprosy. For the SNP on TaqI region, the relationship between the tt genotype, and for the SNP ApaI, the AA genotype, revealed an association with susceptibility to MB form, while Aa genotype with protection. The extended genotypes AaTT and AaTt of ApaI and TaqI were associated with protection to against MB form. Futher studies analyzing the expression of the VDR gene and the correlation with its SNPs might help to clarify the role of polymorphisms on the immune response in leprosy.

Vitamin D Receptor Gene Polymorphisms and the Risk of Metabolic Syndrome (MetS): A Meta-Analysis

2020 ◽  
Vol 20 ◽  
Author(s):  
Hamidreza Totonchi ◽  
Ramazan Rezaei ◽  
Shokoofe Noori ◽  
Negar Azarpira ◽  
Pooneh Mokarram ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Vitamin D ◽  
Vitamin D Receptor ◽  
Protective Factor ◽  
Meta Analysis ◽  
Receptor Gene ◽  
Fixed Effect Model ◽  
Fixed Effect ◽  
Vdr Gene ◽  
Effect Model

Introduction: Several studies have assessed the association between the vitamin D receptor (VDR) polymorphism and risk of metabolic syndrome (MetS). However, the results were inconsistent and inconclusive. Therefore, we conducted a meta-analysis to clarify the exact association between the vitamin D receptor (VDR) polymorphisms and the risk of MetS. Methods: All accessible studies reporting the association between the FokI (rs2228570) or / and TaqI (rs731236) or/and BsmI (rs1544410) or/and ApaI (rs7975232 polymorphisms of the Vitamin D Receptor and susceptibility to MetS published prior to February 2019 were systematically searched in Web of Science, Scopus, and PubMed. After that, Odds ratios (ORs) and their corresponding 95% confidence intervals (CIs) were estimated to evaluate the strength of the association in five genetic models. Results: A total of 9 articles based on four gene variations, and comprising 3348 participants with 1779 metabolic syndrome patients were included. The overall results suggested a significant association between BsmI (rs1544410) polymorphism and MetS susceptibility in recessive model (OR, 0.72, 95% CI, 0.55-0.95, fixed effect model), allelic model (OR, 0.83, 95% CI, 0.72-0.95, fixed effect model), and bb vs BB (OR, 0.65, 95% CI, 0.46-0.93, fixed effect). However, no significant association was identified between TaqI (rs731236) polymorphism, ApaI (rs7975232) polymorphism, and FokI (rs2228570) polymorphism and MetS. Conclusion: This meta-analysis suggested an association between the BsmI (rs1544410) polymorphism and MetS. Indeed, BsmI (rs1544410) acts as a protective factor in the MetS. As a result, the VDR gene could be regarded as a promising pharmacological and physiological target in prevention or treatment of the MetS.

FokI polymorphism of the vitamin D receptor (VDR) gene and susceptibility to tuberculosis: evidence through a meta-analysis

2021 ◽  
Author(s):  
Upendra Yadav ◽  
Pradeep Kumar ◽  
Vandana Rai
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Meta Analysis ◽  
Receptor Gene ◽  
Asian Population ◽  
Recessive Model ◽  
Dominant Model ◽  
Vdr Gene ◽  
Exact Relation ◽  
Significance Level

Abstract Background: Tuberculosis is one of the top ten causes of deaths worldwide. The deficiency of vitamin D was reported to be associated with the increased susceptibility of tuberculosis. Various previous reports were published to check the association of FokI polymorphism of the vitamin D receptor gene with tuberculosis risk. But their results were inconsistent so, we performed a meta-analysis to know the exact relation of the two.Methods: Different databases were screened up to November, 2020 with the keywords “Vitamin D receptor”, “VDR”, and “FokI”, along with “Tuberculosis” and “TB” to find the suitable articles. All the statistical analyses were performed by the Open Meta-Analyst program and all p-values were two-tailed with a significance level of 0.05.Results: No statistically significant association was observed in the allele contrast model (ORfvs.F= 1.11, 95%CI= 0.99-1.24, p= 0.05, I2= 73.46%), in the dominant model (ORff+Ffvs.FF= 1.11, 95%CI= 0.96-1.28, p= 0.14, I2= 71.39%), and in the co-dominant model (ORFfvs.FF= 1.05, 95%CI= 0.92-1.21, p= 0.41, I2= 65.97%). However, a significant association was found in the homozygote model (ORffvs.FF= 1.32, 95%CI= 1.03-1.69, p= 0.02, I2= 67.02%) and in the recessive model (ORFF+Ff vs.ff= 1.26, 95%CI= 1.03-1.54, p= 0.02, I2= 58.01%). Further analysis was performed on the bases of the ethnicity. In Asian population a significant association was found in the homozygote model (ORffvs.FF= 1.57, 95%CI= 1.12-2.21, p= 0.008, I2= 70.37%) and in the recessive model (ORFF+Ff vs.ff= 1.43, 95%CI= 1.08-1.89, p= 0.01, I2= 63.13%).Conclusion: In conclusion, a significant association of FokI with tuberculosis susceptibility was found in the overall analysis and in the Asian population.

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.

95-P: Role of vitamin D receptor gene polymorphism in tuberculosis

2007 ◽  
Vol 68 (1) ◽  
pp. S62
Author(s):  
Angel R. Villasmil ◽  
Mercedes T. Fernandez-Mestre ◽  
Violeta Ogando ◽  
Zulay E. Layrisse
Keyword(s):  
Vitamin D ◽  
Gene Polymorphism ◽  
Vitamin D Receptor ◽  
Receptor Gene ◽  
Vitamin D Receptor Gene ◽  
Receptor Gene Polymorphism

The role of vitamin D receptor gene polymorphisms in bone biology

2002 ◽  
Vol 197 (1-2) ◽  
pp. 15-21 ◽  
Author(s):  
André G Uitterlinden ◽  
Yue Fang ◽  
Arjan P Bergink ◽  
Joyce B.J van Meurs ◽  
Hans P.T.M van Leeuwen ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Receptor Gene ◽  
Vitamin D Receptor Gene ◽  
Bone Biology ◽  
Receptor Gene Polymorphisms

scholarly journals Allelic variations in coding regions of the vitamin D receptor gene in dairy cows and potential susceptibility to periparturient hypocalcaemia

2012 ◽  
Vol 79 (4) ◽  
pp. 423-428 ◽  
Author(s):  
Carolin Deiner ◽  
Maria Reiche ◽  
Dirk Lassner ◽  
Desirée Grienitz ◽  
Sven Twardziok ◽  
...  
Keyword(s):  
Vitamin D ◽  
Dairy Cows ◽  
Vitamin D Receptor ◽  
Bos Taurus ◽  
Post Partum ◽  
Receptor Gene ◽  
Vdr Gene ◽  
Coding Regions ◽  
Vdr Gene Polymorphisms ◽  
Clinical Records

Periparturient hypocalcaemia (milk fever) is a disorder of Ca metabolism in dairy cattle primarily affecting multiparous cows. The major reasons for the rapid decrease of blood Ca concentration after calving are the prompt increase of Ca secretion into the colostrum and the delayed activation of Ca regulation mechanisms including calcitriol, a metabolite of vitamin D. In man, vitamin D receptor (VDR) gene polymorphisms are reported to be associated with disturbances of Ca metabolism, whereas data confirming the same in dairy cows are still missing. Moreover, polymorphisms that only affect non-coding regions are sometimes difficult to ascribe to a specific disorder as pathways and unequivocal links remain elusive. Therefore, the idea of the present study was to investigate in a small group of dairy cows with documented clinical records whether polymorphisms in the coding regions of the VDR gene existed and whether these potentially found variations were correlated with the incidence of periparturient hypocalcaemia. For this purpose, blood DNA was isolated from 26 dairy cows in their 4th to 6th lactation, out of which 17 had experienced hypocalcaemia at least once, whereas 9 cows had never undergone periparturient hypocalcaemia in their lifetime. The 10 VDR exons and small parts of adjacent introns were sequenced and compared with the Bos taurus VDR sequence published on NCBI based on the DNA of one Hereford cow. In total, 8 sequence alterations were detected in the fragments, which were primarily heterozygous. However, only 4 of them were really located on exons thereby potentially causing changes of the encoded amino acid of the VDR protein, but were not correlated with the incidence of periparturient hypocalcaemia. Certainly, this lack of statistical correlation could be due to the small number of animals included; anyhow, it was not encouraging enough to initiate a larger study with hundreds of cows and document blood Ca levels post partum for at least four lactations.

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