Frequency of BsmI polymorphism in the VDR gene in a Population of healthy and Patients Syrian women with polycystic ovary syndrome

Background & Objective: Polycystic Ovary Syndrome is a complex, multifactorial chronic disease, associated with a range of symptoms, including infertility, acne, amenorrhea, hirsutism, and ovarian cysts. Studies have expanded on the causative factors of the syndrome because they have a significant impact on the patient's quality of life and ability to reproduce. It is believed that the predisposition to the syndrome is partly linked to genetic predisposition. A large number of genes related to sex hormones and their metabolism have been identified, in addition to the vitamin D receptor, due to its mediation of the important vital actions of vitamin D in the female reproductive system. Materials and Methods: Our study aimed to investigate the frequency of BsmI polymorphism in the vitamin D receptor gene in a sample of polycystic ovary syndrome patients compared with a control group. The sample included 50 patients and 53 healthy women as controls. We used the Restriction Fragment Length Polymorphism (RFLP) method, where DNA was isolated from peripheral blood by a manual method based on urea, and the polymerase chain reaction (PCR) was performed to amplify the desired fragment and digest the product with the restriction enzyme BsmI. Results: The genotypes were distributed as follows: 35 (70%) of PCOS patients were of the Bb genotype vs 26 (49%) healthy females, 10 (20%) patients were of the BB genotype vs 18 (34%) healthy females, 5 (10%) patients were of the bb genotype vs 10 (17%) healthy females. Conclusion: Our study showed no statistically significant difference between the two study groups in the distribution of genotypes and alleles at the BsmI sites of the VDR gene in a population of healthy and patients Syrian women with polycystic ovary syndrome, and it agreed with some studies and differed with others. This is attributed to the difference in sample size and the ethnicities studied.