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Genetic variation in the vitamin D receptor gene and vitamin D serum levels in Egyptian women with polycystic ovary syndrome
Faculty
Medicine
Year:
2013
Type of Publication:
Article
Pages:
6063-6073
Authors:
El-Shal, Amal S, Aly, Nader M, Shalaby, Sally M, Rashad, Nearmeen M, Abdelaziz, Ahmed M
DOI:
10.1007/s11033-013-2716-y
Journal:
MOLECULAR BIOLOGY REPORTS SPRINGER
Volume:
40
Research Area:
Biochemistry \& Molecular Biology
ISSN
ISI:000325948900002
Keywords :
Polycystic ovary syndrome, 25-Hydroxy vitamin D, Polymerase chain reaction, Obesity, Egyptian women
Abstract:
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 C/ Apa-I C (with variant alleles) compared to the non-carriers. Results showed also that there was an obesity- VDR Taq-I genotypes interactions. These results suggested that, VDR Taq-I gene polymorphism is associated with increased risk of PCOS in Egyptian women.
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