Association of Vitamin-D receptor gene polymorphisms (FokI and ApaI) and Vitamin D serum levels in a sample of Iraqi Women with polycystic ovary syndrome

Abstract

The Affected women with polycystic ovary syndrome (PCOS) usually suffer disturbances in their metabolism one of these disturbance is increase insulin resistant, which may play a role in vitamin D metabolism. This study aimed to find an association between the VDR (vitamin D receptor) FokI and ApaI gene variant in exon 2 and intron 8 with metabolic and endocrine parameters in obese PCOS women. A case control study include 200 women, age from 18 to 40 years divided between control (non PCOS, non-obese) and obese PCOS, Genotypes of FokI-I and Apa-I polymorphism of VDR gene were determined using the PCR-RFLP(polymerase chain reaction-restriction fragment length polymorphism). The mean serum 25 hydroxyvitamin D and calcium levels in PCOS women were significantly lower than the control 17.2±2.33 ng/ml, 31.2±3.39 ng/ml for vitamin D and 7.36±1.04mg/dl, 8.91±0.91mg/dl for calcium respectively, AA genotype distribution of the VDR Apa-I SNP (single nucleotide polymorphism) in PCOS was significantly higher than control (60% versus 40%), and it was associated with lower levels of vitamin D status and androstenedione in PCOS in comparison to aa genotype which associated with normal status. FF genotype of the VDR FokI was more frequent observed in PCOS than control and it was associated with lower levels of vitamin D status and androstenedione in PCOS in comparison to ff genotype which associated with normal status. Can be concluded from present study that Hypovitaminism D was more frequent observed in obese PCOS. The FokI-I and Apa-I polymorphism of the VDR gene is associated with PCOS.