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Genetic influence of vitamin D receptor gene polymorphisms on osteoporosis risk.

ABSTRACT: Objective:Osteoporosis is the most common type of bone disorder characterized by low bone mineral density (BMD). It is a multifactorial disease and caused by the interaction of environmental and genetic factors. It has been reported that mutations in the vitamin D receptor (VDR) gene highly affect the metabolism of minerals, which reduces bone density. Therefore, this study aimed to determine the association of VDR gene polymorphisms TaqI (rs731236) and ApaI (rs7975232) with osteoporosis risk in the Saudi population. Methods:This case-control study involved 73 individuals with osteoporosis and 73 healthy controls in Jeddah, KSA. DNA extracted from peripheral blood was used to determine the genotypes and allele frequencies of VDR variants by polymerase chain reaction-restriction fragment length polymorphisms. Osteoporosis was confirmed by measuring BMD using dual-energy X-ray absorptiometry. The results were interpreted using the Hardy-Weinberg equilibrium assumption with P < 0.05 considered as significant. Results:A significant increase in the genotype frequencies of the ApaI (Aa) and (aa) was observed among osteoporotic patients compared to controls (P = 0.002 and P < 0.0001, respectively). Only the homozygous (tt) genotype of TaqI was significantly higher in those with osteoporosis than in the controls (P = 0.001). The minor "a" allele of ApaI and the "t" allele of TaqI were significantly more common in the patients as compared to controls (P < 0.0001 and P = 0.01, respectively). Conclusion:VDR polymorphisms ApaI and TaqI were found to be significantly determinant risk factors for osteoporosis progression in the Saudi population.

SUBMITTER: Banjabi AA

PROVIDER: S-EPMC7346971 | biostudies-literature | 2020 Jul-Aug

REPOSITORIES: biostudies-literature

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Genetic influence of vitamin D receptor gene polymorphisms on osteoporosis risk.

Banjabi Abeer A AA Al-Ghafari Ayat B AB Kumosani Taha A TA Kannan Kurunthachalam K Fallatah Salah M SM

International journal of health sciences 20200701 4

<h4>Objective</h4>Osteoporosis is the most common type of bone disorder characterized by low bone mineral density (BMD). It is a multifactorial disease and caused by the interaction of environmental and genetic factors. It has been reported that mutations in the vitamin D receptor (<i>VDR</i>) gene highly affect the metabolism of minerals, which reduces bone density. Therefore, this study aimed to determine the association of <i>VDR</i> gene polymorphisms <i>TaqI</i> (rs731236) and <i>ApaI</i> ( ...[more]

PMID: 32694969

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Project description:IntroductionVitamin D receptor gene is one of candidate genes related to osteoporosis expansion. The association of ApaI, TaqI, BsmI polymorphisms in vitamin D receptor gene with bone metabolism and density has been area of interest in many studies.AimThis study was conducted to further investigate the association between the ApaI, TaqI, BsmI polymorphisms and bone density. This study was analytical study. Centers for bone density measurement in southwestern Iran.Materials and methodsIn this analytical study, 200 participants aged 45- and above 45-year-old women referring the centers of bone density measurement participated. The bone density of femoral neck and lumbar vertebrae was measured using dual-energy X-ray absorptiometry method. Based on t-score, the participants were assigned into patients (n=130) and healthy individuals (n=70). Different genotypes of ApaI (AA/Aa/aa), TaqI (TT/Tt/tt), and BsmI (BB/Bb/bb) were determined by PCR-RFLP. The data on bone density and PCR-RFLP were analysed by chi-square and ANOVA. Also, triad combination of the genotypes was statistically analysed. For each genotype combination, chi-square was run between the patients and control group and p-value was calculated.ResultsNo significant association was seen between ApaI polymorphism and bone density (p>0.05). TaqI and BsmI polymorphisms had a significant association with femoral neck's bone density (p<0.05), but these polymorphisms were not significantly associated with lumbar vertebrae's (p>0.05). Patients with homozygous dominant TT genotype had the least bone density in femoral neck compared to other genotypes. Lumbar vertebrae's bone density was similar in three TaqI genotypes. The patients with homozygous recessive bb genotype had the least bone density in femoral neck and lumbar vertebrae compared to other genotypes.ConclusionTaqI and BsmI polymorphisms could be desirable markers in diagnosis of women at risk of osteoporosis in the studied region in Iran. Therefore, these women will receive suitable medical treatment at proper time.

Project description:IntroductionVitamin D receptor (VDR) genotypes may influence breast cancer risk by altering potential anticarcinogenic effects of vitamin D, but epidemiological studies have been inconsistent. Effect modification by serum 25-hydroxyvitamin D (25 [OH]D), the biomarker for vitamin D status in humans, has rarely been examined.MethodsWe assessed the effects of two frequently analyzed polymorphisms (FokI and TaqI) and two potentially functional variants (VDR-5132 and Cdx2) in the VDR gene, which thus far have not been analyzed with respect to breast cancer risk, on postmenopausal breast cancer risk in a population-based, case-control study including 1,408 patients (cases) and 2,612 control individuals (controls) matched for year of birth. Odds ratios (ORs) for breast cancer adjusted for potential confounders were calculated for genotypes and estimated haplotypes.ResultsNo differences in serum 25(OD)D concentrations by VDR genotype were observed. None of the analyzed polymorphisms was associated with overall risk for postmenopausal breast cancer. However, the TaqI polymorphism was associated with a significantly increased risk for oestrogen receptor positive tumours (OR = 1.18, 95% confidence interval [CI] = 1.00 to 1.38, comparing t allele carriers with noncarriers) but not for oestrogen receptor negative tumours (OR = 0.88, 95% CI = 0.69 to 1.13; P for interaction = 0.04). Haplotype analysis revealed the haplotype FtCA (FokI F, TaqI t, VDR-5132 C, Cdx2 A), which contains the TaqI t allele, to be associated with a significantly greater breast cancer risk as compared with the most frequent haplotype FTCG (OR = 1.43, 95% CI = 1.00 to 2.05). No significant interaction between VDR genotypes or haplotypes and 25(OH)D was observed.ConclusionOur results support potential effects of VDR polymorphisms on postmenopausal breast cancer risk and possible differential effects of receptor status of the tumour. However, further studies focusing on the influence of polymorphisms and haplotypes on VDR functionality, activity and concentration are needed.

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Genetic influence of vitamin D receptor gene polymorphisms on osteoporosis risk.

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Genetic influence of vitamin D receptor gene polymorphisms on osteoporosis risk.

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