Role of VDR gene polymorphisms and vitamin D levels in normal and overweight patients with PCOS

• Published in: Journal of genetics Vol. 103; no. 1
• Main Authors: Sağlam, Zümrüt Mine Işik, Bakir, Vuslat Lale, Ataş, Merve Nur, Ergen, H. Arzu
• Format: Journal Article
• Language: English
• Published: New Delhi Springer India 17.01.2024
• Subjects: Animal Genetics and Genomics; Biomedical and Life Sciences; Cholesterol, LDL; Evolutionary Biology; Female; Humans; Imidoesters; Life Sciences; Microbial Genetics and Genomics; Overweight; Plant Genetics and Genomics; Polycystic Ovary Syndrome - genetics; Polymorphism, Genetic; Receptors, Calcitriol - genetics; Research Article; Vitamin D; 1,25-dihydroxyvitamin D3; lipids; vitamin D receptor; polycystic ovary syndrome
• ISSN: 0973-7731; 0973-7731
• DOI: 10.1007/s12041-023-01461-7

Polycystic ovary syndrome (PCOS) is one of the most common endocrine diseases in women. In recent years, the effects of vitamin D receptor (VDR) gene variants and VitD3 levels on clinical features of PCOS have been frequently described. In this study, we aimed to determine the relationship between VDR ApaI , TaqI and Cdx2 gene variants and VitD3 levels in PCOS patients. Patients were divided into two groups: BMI<25 and BMI≥25. VDR genotypes were determined by real-time polymerase chain reaction (PCR) and serum VitD3 levels were examined by ELISA. We observed that frequencies of the Apa1 AC genotype, C allele and Cdx2 T allele are increased in the BMI≥25 group compared to BMI<25 group. Also, the ApaI C allele, Taq1 AA genotype and A allele, Cdx2 CC genotype and C allele are associated with increased triglyceride, total cholesterol, LDL-cholesterol levels in patients with BMI≥25. When examining the relationship between VitD3 levels and clinical profiles in all PCOS patients, regardless of BMI distinction, it is determined that there is a positive correlation between LDL-cholesterol and ftestosterone levels. The present findings suggest that VDR variants are one of the most important risk factors for PCOS, especially for patients with BMI≥25.