Genetic variation in the vitamin D receptor and polycystic ovary syndrome risk

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. Key words: Vitamin D receptor, Polycystic ovary syndrome, Genetic association study.

Download Full-text

Assessment of Vitamin D Receptor Gene Polymorphism in Iraqi Women with Polycystic Ovary Syndrome

JOURNAL FOR CLINICAL AND DIAGNOSTIC RESEARCH ◽

10.7860/jcdr/2018/37349.12084 ◽

2018 ◽

Author(s):

Rana Ali Hamdi ◽

Zina Hassan Abdul-Qahar ◽

Shayma Jamal Ahmed ◽

Raneen Khaleel Tawfeeq

Keyword(s):

Vitamin D ◽

Polycystic Ovary Syndrome ◽

Gene Polymorphism ◽

Vitamin D Receptor ◽

Polycystic Ovary ◽

Receptor Gene ◽

Vitamin D Receptor Gene ◽

Ovary Syndrome ◽

Receptor Gene Polymorphism ◽

Iraqi Women

Download Full-text

Anti-Müllerian hormone level is associated with vitamin D receptor polymorphisms in women with polycystic ovary syndrome

Journal of Assisted Reproduction and Genetics ◽

10.1007/s10815-019-01472-3 ◽

2019 ◽

Vol 36 (6) ◽

pp. 1281-1289 ◽

Cited By ~ 5

Author(s):

Monika Szafarowska ◽

Edyta Dziech ◽

Beata Kaleta ◽

Monika Kniotek ◽

Artur Rogowski ◽

...

Keyword(s):

Vitamin D ◽

Polycystic Ovary Syndrome ◽

Vitamin D Receptor ◽

Hormone Level ◽

Polycystic Ovary ◽

Ovary Syndrome

Download Full-text

Vitamin D receptor and binding protein polymorphisms in women with polycystic ovary syndrome: a case control study

BMC Endocrine Disorders ◽

10.1186/s12902-019-0477-x ◽

2019 ◽

Vol 19 (1) ◽

Cited By ~ 1

Author(s):

Do Kyeong Song ◽

Hyejin Lee ◽

Young Sun Hong ◽

Yeon-Ah Sung

Keyword(s):

Vitamin D ◽

Insulin Sensitivity ◽

Polycystic Ovary Syndrome ◽

Vitamin D Receptor ◽

Polycystic Ovary ◽

Binding Protein ◽

Oral Glucose ◽

Ovary Syndrome ◽

Vdr Gene ◽

Increased Risk

Abstract Background Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women of reproductive age, characterized by hyperandrogenism, oligomenorrhea, polycystic ovary morphology, and insulin resistance. Vitamin D deficiency and vitamin D receptor (VDR)/vitamin D binding protein (VDBP) gene variants could play an important role in susceptibility to PCOS and contribute to metabolic disturbances and menstrual dysfunction. We aimed to investigate the associations of VDR gene and VDBP gene polymorphisms with PCOS susceptibility and to elucidate the impacts of these polymorphisms on the hormonal and metabolic parameters of PCOS. Methods We recruited 432 women with PCOS and 927 controls. Polymorphisms in the VDR gene (VDR Fok-I, Cdx2, Apa-I, and Bsm-I) and VDBP gene (VDBP rs4588, rs7041, and rs22822679) were genotyped. A 75-g oral glucose tolerance test was performed. Results The distributions of genotypes and allele frequencies in VDR and VDBP genes did not differ between PCOS and control. In women with PCOS, compared to the VDR Fok-I GG genotype, the VDR Fok-I AG genotype was significantly associated with increased levels of total testosterone (β = 5.537, P = 0.005). Compared to the VDR Cdx2 AC genotype, the VDR Cdx2 CC genotype was associated with increased levels of fasting insulin and HOMA-IR in women with PCOS, however, the associations were not statistically significant. Conclusions This finding indicates that genetic variations in VDR and VDBP were not associated with increased risk for PCOS. In contrast, the VDR Fok-I polymorphism was associated with testosterone level and the Cdx2 polymorphism with insulin sensitivity in PCOS. However, the Cdx2 polymorphism was not significantly associated with increased insulin and insulin sensitivity in women with PCOS after multiple linear regression.

Download Full-text

Vitamin D Receptor Gene Polymorphism Taq in Egyptian Women With Polycystic Ovary Syndrome

Bulletin of Egyptian Society for Physiological Sciences ◽

10.21608/besps.2018.8099 ◽

2018 ◽

Vol 38 (1) ◽

pp. 13-26

Author(s):

Eman Abd El Gayed ◽

Alaa Abd El Gayed

Keyword(s):

Vitamin D ◽

Polycystic Ovary Syndrome ◽

Gene Polymorphism ◽

Vitamin D Receptor ◽

Polycystic Ovary ◽

Receptor Gene ◽

Vitamin D Receptor Gene ◽

Ovary Syndrome ◽

Receptor Gene Polymorphism ◽

Egyptian Women

Download Full-text

Polymorphisms of Vitamin D Receptor and the Effect on Metabolic and Endocrine Abnormalities in Polycystic Ovary Syndrome: A Review

Hormone and Metabolic Research ◽

10.1055/a-1587-9336 ◽

2021 ◽

Author(s):

Talida Vulcan ◽

Gabriela Adriana Filip ◽

Lavinia Manuela Lenghel ◽

Tudor Suciu ◽

Paula Ilut ◽

...

Keyword(s):

Vitamin D ◽

Polycystic Ovary Syndrome ◽

Vitamin D Receptor ◽

Polycystic Ovary ◽

Case Control ◽

Case Control Studies ◽

Ovary Syndrome ◽

Endocrine Parameters ◽

The Impact ◽

Vdr Polymorphisms

AbstractPolycystic ovary syndrome (PCOS) is one of the most prevalent endocrine disorder in women of reproductive age. Vitamin D and its receptor are thought to play an important role in PCOS susceptibility, although the impact of vitamin D receptor (VDR) polymorphisms on the hormonal and metabolic profile is still controversial. A literature search in PubMed and Embase was performed up to September 2020 for case-control studies in women suffering from PCOS, with outcome related to VDR polymorphisms effect on metabolic/endocrine disturbances. We have found 16 eligible studies including 2566 women with PCOS and 2430 controls. ApaI polymorphism seemed to be associated with hyperandrogenism in both Asian and Caucasian population. FokI variant was correlated with metabolic/endocrine parameters especially in Asian population, while a relation between Cdx2 genotypes and insulin sensitivity was observed in both ethnicities. VDR polymorphisms have an important role in PCOS development and related hormonal and metabolic abnormalities. Few case-control studies analysed the interaction between VDR variants and metabolic/endocrine parameters with the majority of the articles focused on the Asian region. Further research on various ethnic populations with larger sample size are still needed for a definitive conclusion, in order to allow early diagnosis and prevention of PCOS comorbidities.

Download Full-text