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Lack of association between vitamin D receptor gene BsmI polymorphism and breast cancer risk: an updated meta-analysis involving 23,020 subjects.

ABSTRACT: The vitamin D receptor (VDR) is a crucial mediator for the cellular effects of vitamin D. A great number of studies regarding the association between BsmI polymorphism in the VDR gene and breast cancer have been published. However, the results have been contradicting. Therefore, we conducted a meta-analysis to re-examine the controversy. Published literatures from PubMed, Embase, and Chinese Biomedical Literature Database (CBM) were searched (updated to July 10, 2013). The principal outcome measure was the odds ratio (OR) with 95% confidence interval (CI) for breast cancer risk associated with VDR BsmI polymorphism. With all studies involved, the meta-analysis results suggest no statistically significant association between VDR BsmI polymorphism and breast cancer risk (B vs. b, OR = 0.922, 95% CI = 0.836-1.018, P = 0.108, I (2) = 80.0%; BB vs. bb, OR = 0.843, 95% CI = 0.697-1.021, P = 1.75, I (2) = 75.5%; Bb vs. bb, OR = 0.930, 95% CI = 0.814-1.063, P = 0.31, I (2) = 73.1%; BB+Bb vs. bb, OR = 0.906, 95% CI = 0.787-1.043, P = 1.37, I (2) = 78.7%; BB vs. bb+Bb, OR = 0.899, 95% CI = 0.786-1.028, P = 1.56, I (2) = 61.0%). The results were not changed when studies were stratified by ethnicity or source of controls. This meta-analysis suggested that there were no associations between VDR BsmI polymorphism and breast cancer.

SUBMITTER: Du Y

PROVIDER: S-EPMC3967081 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Lack of association of vitamin D receptor BsmI gene polymorphism with bone mineral density in Spanish postmenopausal women.

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Association of vitamin D receptor BsmI gene polymorphism with risk of tuberculosis: a meta-analysis of 15 studies.

Project description:BackgroundGenetic variations in vitamin D receptor (VDR) may contribute to tuberculosis (TB) risk. Many studies have investigated the association between VDR BsmI gene polymorphism and TB risk, but yielded inconclusive results.Methodology/principal findingsWe performed a comprehensive meta-analysis of 15 publications with a total of 2309 cases and 3568 controls. We assessed the strength of the association between VDR BsmI gene polymorphism and TB risk and performed sub-group analyses by ethnicity, sample size and Hardy-Weinberg equilibrium (HWE). We found a statistically significant correlation between VDR BsmI gene polymorphism and decreased TB risk in four comparison models: allele model (b vs. B: OR?=?0.78, 95% CI?=?0.67, 0.89; Pheterogeneity?=?0.004), homozygote model (bb vs. BB: OR?=?0.61, 95% CI?=?0.43, 0.87; Pheterogeneity?=?0.001), recessive model (bb vs. Bb+BB: OR?=?0.70, 95% CI?=?0.56, 0.88; Pheterogeneity?=?0.005) and dominant model (bb+Bb vs. BB: OR?=?0.77, 95% CI?=?0.61, 0.97; Pheterogeneity?=?0.010), especially in studies based on Asian population. Sub-group analyses also revealed that there was a statistically decreased TB risk in "small" studies (<500 participants) and studies with PHWE>0.5. Meta-regression and stratification analysis both showed that the ethnicity and sample size contributed to heterogeneity.ConclusionsThis meta-analysis suggests that VDR BsmI gene polymorphism is associated with a significant decreased TB risk, especially in Asian population.

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Project description:Published data on the association between 8q24 rs6983267 polymorphism and cancer risk are inconsistent. Thus, we conducted a meta-analysis to evaluate the relationship between rs6983267 polymorphism and cancer risk. We searched on PubMed, EMBASE, Web of Science and China National Knowledge Infrastructure (CNKI) up to November 1, 2016 for relevant studies. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to estimate the strength of this association. We included 78 case-control studies with a total of 73,996 cases and 96,741 controls in this meta-analysis. The pooled results showed that rs6983267 polymorphism was significantly associated with increased risk of overall cancer in all genetic models (dominant model: OR = 1.19, 95% CI = 1.13-1.26; recessive model: OR = 1.19, 95% CI = 1.14-1.25; homozygous model: OR= 1.31, 95% CI = 1.23-1.40; heterozygous model: OR = 1.14, 95% CI = 1.10-1.19; allelic model: OR = 1.14, 95% CI = 1.11-1.18). Stratified analyses indicated that rs6983267 significantly increased the risk of colorectal cancer in Caucasians, prostate cancer in Caucasians and Asians, thyroid cancer in Caucasians and lung cancer in Asians. When studies were stratified by study quality, source of controls and genotyping method, significant associations were especially found in the high quality studies, the publication-based studies, the hospital-based studies, and the PCR-RFLP studies. Additional well-designed studies with large samples should be performed to validate our results.

| S-EPMC5593654 | biostudies-literature

A reappraised meta-analysis of the genetic association between vitamin D receptor BsmI (rs1544410) polymorphism and pulmonary tuberculosis risk.

Project description:BsmI (rs1544410) polymorphism located in intron 8 at the 3'-end of the vitamin D receptor (VDR) gene is known to be involved in the regulation of mRNA stability. Many studies evaluated the possible correlation between VDR BsmI polymorphism and the risk of pulmonary tuberculosis (PTB), and reported conflicting results. In the present study, an updated meta-analysis was performed to evaluate the above-said association. PubMed, Embase, and Google Scholar web-databases were searched for the relevant studies and a meta-analysis was performed by calculating pooled odds ratios (ORs) and 95% confidence intervals (95% CIs) for all the genetic models. A total of 19 studies comprising 3644 controls and 2635 cases were included in the present study. Overall no association of PTB in allelic contrast (b compared with B: P=0.285; OR =0.909, 95% CI =0.762-1.083), homozygous (bb compared with BB: P=0.881; OR =0.975, 95% CI =0.700-1.359), heterozygous (bB compared with BB: P=0.834; OR =1.017, 95% CI =0.872-1.185), dominant (bb compared with BB + Bb: P=0.451; OR =0.954, 95% CI =0.843-1.079) and recessive (bb + Bb compared with BB: P=0.983; OR =1.002, 95% CI =0.868-1.156) genetic models in comparison with wild-type allele and genotype BB were observed. However, variant allele (b compared with B: P=0.001; OR =2.289, 95% CI =1.661-3.154) showed increased risk of PTB in Asians. In conclusion, VDR BsmI polymorphism is not a risk factor for PTB in overall population. However, this polymorphism may be interrelated to an increased risk of PTB amongst Asians.

| S-EPMC5463263 | biostudies-literature

<i>TGF-β1</i> Gene -509C/T Polymorphism and Coronary Artery Disease: An Updated Meta-Analysis Involving 11,701 Subjects.

Project description:Background: The transforming growth factor-β1 (TGF-β1) gene -509C/T polymorphism has been suggested to be associated with increased coronary artery disease (CAD) risk. However, the individual studies results are still inconsistent. Objective and methods: To investigate the relationship between TGF-β1 gene -509C/T polymorphism and CAD, a meta-analysis involving 11,701 participants from 8 individual studies was conducted. The pooled odds ratios (ORs) and their corresponding 95% confidence intervals were evaluated by using random or fixed effect models. Results: A significant association between TGF-β1 gene -509C/T polymorphism and CAD was detected in the total population under allelic (OR: 1.130, 95% CI: 1.060-1.200, P = 0.0001), recessive (OR: 1.390, 95% CI: 1.100-1.750, P = 0.006), dominant (OR: 0.857, 95% CI: 0.785-0.935, P = 2.507 × 10-4), homozygous (OR: 1.258, 95% CI: 1.098-1.442, P = 0.001), heterozygous (OR: 1.147, 95% CI: 1.046-1.257, P = 0.003), and additive genetic models (OR: 1.131, 95% CI: 1.063-1.204, P = 5.442 × 10-5). In the subgroup analysis, there was a significant association between them in Chinese population under all of the genetic models (P < 0.05), except under the heterozygous genetic model (P > 0.05). In the Caucasian subgroup, a significant association between them was also detected under all of the genetic models (P < 0.05), except under the recessive genetic model (P > 0.05). Conclusions:TGF-β1 gene -509C/T polymorphism was significantly associated with increased CAD risk. The people with T allele of TGF-β1 gene -509C/T polymorphism might be predisposed to CAD.

| S-EPMC5322195 | biostudies-literature

Association between the STK15 F31I polymorphism and cancer susceptibility: a meta-analysis involving 43,626 subjects.

Project description:The association between the Serine/threonine kinase 15 (STK15) F31I polymorphism (rs2273535) and cancer susceptibility remains controversial. To further investigate this potential relationship, we conducted a comprehensive meta-analysis of 27 published studies involving a total of 19,267 multiple cancer cases and 24,359 controls. Our results indicate statistical evidence of an association between the STK15 F31I polymorphism and the increased risk of overall cancer in four genetic models: AA vs. TA+TT, AA vs. TT, AA vs. TA, and A vs. T. In a stratified analysis by cancer type, there was an increased risk of breast cancer in four genetic models: AA vs. TA+TT, AA vs. TT, AA vs. TA, and A vs. T, as well as esophageal cancer in two genetic models: AA vs. TA+TT and AA vs. TA. In a stratified analysis by ethnicity, there was a significant increase in cancer risk among Asians, but not Caucasians, in four genetic models: AA vs. TA+TT, AA vs. TT, AA vs. TA and A vs. T. In addition, a stratified analysis by ethnicity in the breast cancer subgroup revealed a significant increase in cancer risk among Asians in two genetic models: AA vs. TA+TT and AA vs. TT, as well as among Caucasians in one genetic model: AA vs. TA. In summary, this meta-analysis demonstrates that the STK15 F31I polymorphism may be a risk factor for cancer.

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