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

Abstract

Backg round: Polycystic ovary syndrome (PCOS) is one of the commonest endocrine disorder affecting the women in childbearing period. Accumulating evidences from recent studies indicate that vitamin D receptor (VDR)Taq1(Tt) genetic variants may contribute to the pathogenesis of insulin resistance and polycystic ovary syndrome. The Vitamin-D receptor (VDR) regulates vitamin D levels and calciu m metabolis m in the body and these are known to be associated with insulin resistance and type-2 diabetes in polycystic ovarian syndrome (PCOS). This study aims to investigate the association of VDR polymorphis m Taq1(Tt) and serum 25(OH)D level with PCOS. Th is study was carried out on140 subjects divided into 2 groups: 70 patients with PCOS (group I) and 70 healthy subjects served as controls (group II). All studied subjects were submitted to full history taking, general clin ical examination and laboratory invest igations for serum levels of fasting blood glucose, total cholesterol (TC),triglycerides (TG), HDL-c,LDL-c, fasting insulin and 25(OH)D. Also genotyping of VDR poly morphis m (Taq1) was analyzed using the polymerase chain reaction-restriction fragment length polymorphis m technique (PCR-RFLP). Results showed high significant statistical differences between the two studied groups regarding BMI (P value <0.001),SBP (P value <0.001) ,DBP (P value <0.001), fasting insulin (P value <0.001), fasting blood glucose (P value <0.001) ,insulin resistance (P value <0.001) ,triacylg lycerol (P value <0.001), LDL cholesterol (P value <0.001), serum level of 25 (OH) Vit D (P value <0.001) and VIT D R Taq1 genotype distribution (p value<0.001) with increased frequency of the tt andTt genotype in patients with PCOS and increased frequency of TT genotype in controls. Conclusion: Our results indicate that tt genotype and t allele of VDR TaqI polymorphis m and serum level of 25OHD might be risk factors for PCOS. Keywords  Gene polymorphism PCOS  Vitamin-D  Vitamin D receptor Bull. of Egyp. Soc. Physiol. Sci.