Vitamin D receptor gene polymorphism and polycystic ovary syndrome susceptibility

BMC Medical Genomics

Research

Omar A. Ammar¹  Mustafa Neamatallah²  Sally Abdallah Mostafa²  Mohamed Saad Serria²  Hossam Elazab²  Ibrahim A Albahlol³  Abdel-Hady El-Gilany⁴  Nashwa M. Alkasaby⁵  Yomna A Setate⁶  Mahmoud Abdelaziz⁷ 

[1] Basic Science Department, Delta University for Science and Technology, Gamasa, Egypt;Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Mansoura University, Mansoura, Egypt;Department of Obstetrics and Gynecology, Jouf College of Medicine, Jouf University, Mansoura College of Medicine, Mansoura University, Mansoura, SA, Egypt;Department of Public Health and Preventive Medicine, Faculty of Medicine, Mansoura University, Mansoura, Egypt;Departments of Medical Microbiology & Immunology, Faculty of Medicine, Mansoura University, Mansoura, Egypt;Infection Control Unit, Mansoura Specialized Hospital (MSH), Mansoura, Egypt;Oncology Center, Mansoura University, Mansoura, Egypt;

关键词: PCOS;    Vitamin D receptor;    Gene polymorphisms;    SNP;   

DOI  :  10.1186/s12920-023-01541-8

 received in 2022-10-14, accepted in 2023-05-11,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundPolycystic 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.MethodsIn 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 TaqMan allelic discrimination real-time polymerase chain reaction.ResultsWomen 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).ConclusionsThe findings of this study indicate that variations in the VDR gene were associated with an increased risk of PCOS in Egyptian women.

【 授权许可】

CC BY   
© The Author(s) 2023

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