Vitamin D receptor gene polymorphism and polycystic ovary syndrome susceptibility

Ibrahim A Albahlol; Mustafa Neamatallah; Mohamed Saad Serria; Abdel-Hady El-Gilany; Yomna A Setate; Nashwa M Alkasaby; Sally Abdallah Mostafa; Mahmoud Abdelaziz; Hossam Elazab; Omar A Ammar

doi:10.1186/s12920-023-01541-8

Vitamin D receptor gene polymorphism and polycystic ovary syndrome susceptibility

BMC Med Genomics. 2023 May 18;16(1):108. doi: 10.1186/s12920-023-01541-8.

Affiliations

¹ Department of Obstetrics and Gynecology, Jouf College of Medicine, Jouf University, Mansoura College of Medicine, Mansoura University, Mansoura, SA, Egypt.
² Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
³ Department of Public Health and Preventive Medicine, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
⁴ Infection Control Unit, Mansoura Specialized Hospital (MSH), Mansoura, Egypt.
⁵ Departments of Medical Microbiology & Immunology, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
⁶ Oncology Center, Mansoura University, Mansoura, Egypt.
⁷ Basic Science Department, Delta University for Science and Technology, Gamasa, Egypt. omar.ammar@deltauniv.edu.eg.

Abstract

Background: Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women. This study was designed to investigate the associations of vitamin D receptor (VDR) gene variants with PCOS risk and the severity of the disease phenotype among Egyptian women.

Methods: In this study, 185 women with PCOS and 207 fertile women as controls were recruited. Cases were divided into phenotype groups based on their clinical and paraclinical features. Clinical and laboratory data were measured in the patient and control groups. All individuals were genotyped for nine single-nucleotide polymorphisms (SNPs) located across the VDR gene using Taq^Man allelic discrimination real-time polymerase chain reaction.

Results: Women with PCOS were significantly (P ≤ 0.001) higher body mass index (BMI) (22.77 ± 2.5) than controls (21.68 ± 1.85 kg/m²). Women with PCOS had significantly higher anti-Mullerian hormone, prolactin, luteinizing hormone (LH), LH/follicle-stimulating hormone (FSH), free testosterone, total testosterone, and dehydroepiandrosterone sulfate levels than the control group (P ≤ 0.001). The level of FSH was significantly lower in women with PCOS than in the control group (P ≤ 0.001). Analysis of the VDR rs4516035, rs2107301, rs1544410 (BsmI), and rs731236 (TaqI) SNPs showed a significant association with PCOS phenotype A. Furthermore, rs2228570 (FokI), rs3782905, rs7975232 (ApaI), and rs739837 SNPs showed a significant association with PCOS phenotype C. Furthermore, rs11568820 SNP showed a significant association with PCOS phenotype D (P < 0.05).

Conclusions: The findings of this study indicate that variations in the VDR gene were associated with an increased risk of PCOS in Egyptian women.

Keywords: Gene polymorphisms; PCOS; SNP; Vitamin D receptor.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Case-Control Studies
Female
Follicle Stimulating Hormone / genetics
Genetic Predisposition to Disease
Humans
Polycystic Ovary Syndrome* / genetics
Polymorphism, Single Nucleotide
Receptors, Calcitriol / genetics
Testosterone

Substances

Follicle Stimulating Hormone
Receptors, Calcitriol
Testosterone
VDR protein, human