Association of ApaI polymorphism of VDR gene with obesity in Iranian population

Introduction: Identifying the risk factors of obesity as a problem facing communities is crucial given its complexity. The vitamin D receptor (VDR) gene has been reported as a candidate for this disease in literature. Objective: To investigate the association of ApaI, BsmI and TaqI polymorphisms of VDR gene with obesity in part of Iranian population. Material and methods: In this study, genotypes of 348 obese (BMI ≥30 kg/m2) and 320 non-obese (BMI: 18.5-24.9 kg/m2) were analyzed by using PCR-RFLP method. The levels of FBS, TG, Total Cholesterol, HDL- Cholesterol and LDL- Cholesterol were measured by using an automatic biochemical analyzer. Results: The present findings showed significantly higher BMI, FBS and TG in the obese group compared to in the controls. In the obese individuals, the frequency of genotype AA was 47.1% and that of combined genotype Aa+aa 52.9%, whereas these figures were respectively 30% and 70% in the controls [P=0.024, 95% confidence interval (CI)=1.100-3.933, odds ratio (OR)=2.08]. The frequencies of A and a alleles for the ApaI polymorphism were statistically significant in the two groups (allele A vs. a, P=0.017). No significant relationships were also observed between TaqI genotypes and alleles in the controls and obese subjects. Conclusion: The present study found VDR ApaI (rs7975232 C/A) polymorphism appeared to be a risk factor for obesity. In particular, A allele and genotype of AA in ApaI were associated with the obesity phenotypes.

Vitamin D receptor gene polymorphisms and osteoarthritis: a meta-analysis

Objective To investigate the association of vitamin D receptor (VDR) gene polymorphisms with OA susceptibility. Methods Meta-analyses were performed using allelic contrast, contrast of homozygotes, and recessive and dominant models to clarify the association between OA and VDR ApaI, BsmI, TaqI and FokI polymorphisms. Odds ratio (OR) and the corresponding 95% CI were obtained, and subgroup analyses were performed based on the ethnicity and OA sites. Results A total of 18 studies with 2983 OA patients and 4177 controls were included in this meta-analysis. There were statistically significant associations in the spine between OA susceptibility and the VDR BsmI (B vs b: OR = 1.25, 95% CI: 1.03, 1.53, P = 0.026; BB vs bb: OR = 1.56, 95% CI: 1.02, 2.37, P = 0.038) and TaqI (T vs t: OR = 0.73, 95% CI: 0.54, 0.99, P = 0.044; TT vs Tt + tt: OR = 0.63, 95% CI: 0.42, 0.95, P = 0.028) polymorphisms, but not for the other polymorphisms. A statistically significant association was found between the VDR FokI polymorphism and OA susceptibility in the knee in the recessive model contrast (FF vs Ff + ff: OR = 0.63, 95% CI: 0.42, 0.95, P = 0.028), but this result was only pooled from one study. However, no significant associations were found between the VDR ApaI polymorphism and OA. Besides, ethnic stratification also indicated that there was no significant association between VDR gene polymorphism and OA in Caucasians or Asians. Conclusion Our meta-analysis suggests that the VDR BsmI and TaqI polymorphisms are associated with OA susceptibility in the spine. However, the VDR ApaI polymorphism is not a significant genetic risk factor for OA.

Vitamin D Receptor Polymorphisms in Sex-Frailty Paradox

The “male-female health-survival paradox” evidences that the survival advantage observed in women is linked to higher rates of disability and poor health status compared to men, a phenomenon also called the “sex-frailty paradox”. The depletion of vitamin D seems to play a role in the fragilization of old persons, and genetic polymorphisms of the vitamin D receptor (VDR) gene seem to be involved in regulating the vitamin D pathway. This study correlated the VDR gene polymorphisms (FokI, ApaI, BsmiI, and TaqI) with frailty, computed by frailty index (FI), in 202 persons (127 women and 75 men, aged from 60 to 116 years), aiming to capture the involvement of vitamin D in the sex-frailty paradox. The results showed slightly higher FI (p = 0.05), lower levels of 25(OH)D (p = 0.04), and higher levels of parathyroid hormone PTH (p = 0.002) and phosphorus (p < 0.001) in women than in men. Interestingly, the ApaI minor allele (Aa + aa) showed a significant positive association with FI (p = 0.03) and a negative association with inorganic phosphorus values (p = 0.04) compared to AA genotype only in women, regardless of age. The exact mechanism and the causal role that, in old women, links ApaI polymorphism with frailty are still unclear. However, we could speculate that a specific genetic profiling, other than 25(OH)D levels, play a role in the sex-frailty paradox.

Association between vitamin D receptor (VDR) polymorphisms and the risk of multiple sclerosis (MS): an updated meta-analysis

Background The association between the Vitamin D Receptor (VDR) gene polymorphism and the risk of Multiple sclerosis (MS) has been evaluated in several researches. However, the findings were inconsistent and inconclusive. Therefore, we set out a meta-analysis of all eligible published case-control studies to obtain an exact evaluation of the association between VDR gene polymorphisms and MS. Method All relevant studies reporting the association between the VDR gene FokI (rs2228570), or/and TaqI (rs731236) or/and BsmI (rs1544410) or/and ApaI (rs7975232) polymorphisms and susceptibility to MS published up to May, 2019 were identified by comprehensive systematic search in the electronic database of web of science, Scopus, and PubMed. After that, the strength of association between VDR gene polymorphisms and susceptibility to MS was evaluated by odds ratio (OR) and 95% confidence interval (CI). Results A total of 30 case–control studies were included in the meta-analysis. The overall results suggested a significant association between TaqI polymorphism and MS risk under heterozygote genetic model (OR = 1.27, 95%CI = 1.01–1.59, random effect). Moreover, the pooled results of subgroup analysis declined presence of significant association under all defined genetic model. In subgroup analysis, BsmI polymorphisms was associated with increased risk of MS under recessive model in Asian populations. On the other hand, ApaI polymorphism was associated with decreased risk of MS under recessive and aa vs. AA model in Asian populations. Conclusion This meta-analysis suggested a significant association between TaqI polymorphism and MS susceptibility. Furthermore, BsmI polymorphism was associated with increased risk of MS in Asian populations. In contrast, ApaI polymorphism was associated with decreased risk of MS in Asian populations. Future large-scale studies on gene–environment and gene–gene interactions are required to estimate risk factors and assist early diagnosis of patients at high risk for MS.

Impact of vitamin D receptor gene polymorphism on Systemic Lupus Erythematosus susceptibility: A pooled analysis

It is still unclear whether there was an association between vitamin D receptor (VDR) gene polymorphism and systemic lupus erythematosus (SLE). This meta analysis including 19 studies were performed using Stata software. In our analysis, VDR ApaI polymorphism was correlated with SLE susceptibility in general populations (AA vs aa: P=0.003; AA+Aa vs aa: P=0.000). VDR gene ApaI and BsmI polymorphism were correlated with SLE susceptibility in Caucasian populations (BB vs Bb+bb: p=0.005; B vs b: P=0.026; AA vs aa: P =0.038). VDR BsmI and FokI polymorphism were correlated with SLE in African populations (BB+Bb vs bb: P=0.000; FF vs Ff +ff: P=0.000; F vs f: P=0.000; FF vs ff: P=0.000; FF+Ff vs ff: P=0.000). VDR ApaI polymorphism was correlated with SLE in Asian populations (AA+Aa vs aa) when stratified by race. Additionly, ApaI polymorphism was correlated with SLE in female subjects (AA vs aa: P =0.022) when stratified by gender. But there was no association between VDR TaqI polymorphism and SLE susceptibility in our analysis.

ASSOCIATION OF ApaI POLYMORPHISM OF GENE VDR WITH THE DEVELOPMENT OF CHRONIC GENERALIZED PERIODONTITIS

ASSOCIATION OF ApaI POLYMORPHISM OF GENE VDR WITH THE DEVELOPMENT OF CHRONIC GENERALIZED PERIODONTITIS