Obesity, insulin resistance, and hyperandrogenism
are considered crucial parameters of polycystic ovary
syndrome (PCOS) which might be related to vitamin D
metabolism. The aim of this study was to investigate the
associations between polymorphisms (TaqI and ApaI) in
the vitamin D receptor gene (VDR) and PCOS among
Egyptian women. We aimed also to elucidate the impact of
these polymorphisms on vitamin D level, hormonal and
metabolic parameters of PCOS. One hundred and fifty
Egyptian women with PCOS and 150 unrelated controls
were enrolled in this study. Polymorphisms of VDR Taq-I
T/C (rs731236) and Apa-I A/C (rs7975232) gene were
genotyped using polymerase chain reaction restriction
fragment length polymorphism (PCR–RFLP). Serum 25
hydroxy vitamin D [25(OH) D] levels were measured by
high-performance liquid chromatography. PCOS women
had significantly lower levels of 25(OH) D compared to
healthy women. Our results revealed that Taq-I CC genotype
and C allele were associated with increased risk of
PCOS, while the Apa-I polymorphism was not. Haplotype
Taq-I C/ Apa-I C was associated with a higher PCOS risk
more than controls. Moreover, there was a significant
decrease of 25(OH) D levels in carriers of haplotype Taq-I