Dataset Information

Association of BsmI variant of vitamin D receptor gene with polycystic ovary syndrome: A case-control study.

ABSTRACT:

Background

Polycystic ovarian syndrome (PCOS) is an endocrine disorder that affects women's fertility and causes alterations such as obesity, insulin resistance, menstrual irregularities, and polycystic ovaries. The results of the studies show that the issue of vitamin D and vitamin D receptor (VDR) is controversial for PCOS susceptibility.

Objective

To investigate the association of BsmI polymorphism in the VDR gene with metabolic parameters in obese PCOS women.

Materials and methods

In this case-control study, 38 obese subjects with PCOS and 40 unrelated obese individuals were evaluated to determine the allelic and genotypic frequency of BsmI variant by Polymerase Chain Reaction Restriction Fragment Length Polymorphism method. Body Mass Index, parathyroid hormone, phosphorus, and calcium were evaluated in all participants.

Results

BsmI (rs1544410), (A/G) AA, AG, GG, A, and G percentage of genotypic/allelic frequencies were 65.8, 26.3, 7.9, 78.9, and 21.1 in cases and 57.5, 40, 2.5, 77.5, and 22.5 in controls, respectively. Statistical analysis revealed that the differences in genotypic (p = 0.31)/allelic (p = 0.83) frequencies and dominant (p = 0.45)/recessive (p = 0.35) models between the cases and controls were not significant. This study indicates no association between the BsmI genotypes and metabolic parameters.

Conclusion

It can be concluded that VDR BsmI (rs1544410) Intron 8 (A > G) was not associated with obesity along with PCOS susceptibility in the studied groups.

SUBMITTER: Ramezani N

PROVIDER: S-EPMC7569712 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature

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Publications

Association of <i>BsmI</i> variant of vitamin D receptor gene with polycystic ovary syndrome: A case-control study.

Ramezani Nasim N Ostadsharif Maryam M Nayeri Hashem H

International journal of reproductive biomedicine 20201013 10

<h4>Background</h4>Polycystic ovarian syndrome (PCOS) is an endocrine disorder that affects women's fertility and causes alterations such as obesity, insulin resistance, menstrual irregularities, and polycystic ovaries. The results of the studies show that the issue of vitamin D and vitamin D receptor (VDR) is controversial for PCOS susceptibility.<h4>Objective</h4>To investigate the association of <i>BsmI</i> polymorphism in the <i>VDR</i> gene with metabolic parameters in obese PCOS women.<h4> ...[more]

PMID: 33134800

Similar Datasets

Project description:BackgroundPolycystic ovary syndrome (PCOS) is a common endocrine disorder in reproductive-age women. Multiple susceptible gene as well as environmental factors and their interaction each other are contributed to the PCOS risk. Several case-control studies have researched the associations of the vitamin D receptor gene (VDR) polymorphisms with PCOS susceptibility, but the jury is still out. Here, we carried out a meta-analysis to clarify polymorphisms between ApaI (C/A) (rs7975232), BsmI (G/A) (rs1544410), FokI (C/T) (rs10735810), TaqI (T/C) (rs731236) and Tru9I (G/A) (rs757343) in the VDR gene and PCOS susceptibility based on relative lager sample size.MethodsEnglish database of PubMed and Embase, and Chinese database of Wanfang and China National Knowledge Infrastructure (CNKI) databases were retrivaled for the relationship between VDR gene variates and PCOS susceptibility published before 31th, May 2018. Crude odds ratios (ORs) and its 95% confidence intervals (95% CIs) in different comparisons were used to detected the strength of the association. All the statistical analyses of the present meta-analysis were performed by STATA version 12.0 software.ResultsTotally, 3587 (PCOS group 1922; control group 1665) participants from 13 studies were included which met our inclusion criteria. A statistically significant association between VDR ApaI (rs7975232) polymorphism and PCOS susceptibility (C vs. A: OR = 1.19, 95%CI = 1.06~1.34, P = 0.004) was found in the overall population. After stratified by ethnicity, we showed that there is a significant association between VDR ApaI (rs7975232) polymorphism and susceptibility to PCOS in the Asian (C vs. A: OR = 1.21, 95%CI = 1.04~1.42, P = 0.016) population, but this association was not found in the Caucasian population. Additionally, a significant relationship between VDR BsmI (rs1544410) variates with PCOS susceptibility in the Asian (G vs. A: OR = 1.27, 95%CI = 1.06~1.53, P = 0.011) population, but this association was not found in the Caucasian population. We didn't find any association between VDR FokI (rs2228570), VDR TaqI (rs731236), VDR Tru9I (rs757343) and PCOS susceptibility in the overall and the subgroup populations.ConclusionsOur findings demonstrated that VDR ApaI (rs7975232) and VDR BsmI (rs1544410) polymorphisms are correlated with susceptibility to PCOS in the Asian population and VDR TaqI (rs731236), VDR FokI (rs2228570), VDR Tru9I (rs757343) did not reveal a relationship with the PCOS susceptibility.

Project description:Objectives: There are still limited or lacking data on the association of trace elements (TEs) with polycystic ovary syndrome (PCOS). This case-control study aimed to determine levels of essential TEs (manganese (Mn), copper (Cu), zinc (Zn), selenium (Se), molybdenum (Mo)) and non-essential TEs (arsenic (As), cadmium (Cd), mercury (Hg), lead (Pb)) in urine, whole blood, and serum to investigate a possible association with kidney and liver function, endocrine and metabolic parameters, and environmental and lifestyle sources of potential exposure and provide possible recommendations. Methods: In our case-control study, women with PCOS (n = 35) and healthy controls (n = 35) underwent clinical and ultrasonographic examination, filled in questionnaires targeting general, lifestyle, and environmental information, and provided fasting venous blood samples and first morning urine for biochemical, hormonal, and TE analysis. Multiple linear regression models were used to evaluate the association between TE levels and data obtained through questionnaires. Results: In women with PCOS, lower Mo levels in whole blood (p = 0.024) and serum (p = 0.011) and higher serum Cu levels (p = 0.026) were detected when compared to healthy controls. Results of this study show that amendments in Cu and Mo levels might be related to altered kidney and liver function and disrupted hormonal balance in PCOS women. Cu levels positively correlated with leukocyte count. There was a negative correlation of Mo levels with proteinuria and luteinizing hormone levels. Regarding liver function, Mo negatively correlated with urinary bilirubin levels, and there was a positive association with alanine and aspartate aminotransferase, respectively. Dietary supplement consumption and certain diet habits appeared to be important predictors of exposure to Cu (beef consumption) or Mo (cereal and boiled vegetable consumption) and modify Mo and Cu levels in women. Conclusions: Concentrations of the chemical elements Mo and Cu in biological samples of women appear to be related to PCOS and nutrition. To our knowledge, this is a novel finding for Mo. Additional research is needed to provide more insights into the causality of the PCOS relationship with Mo and Cu in humans.