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Genetic variation in the vitamin D receptor gene and vitamin D serum levels in Egyptian women with polycystic ovary syndrome

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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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Acknowledgments

The authors wish to express their sincere thanks to all volunteers and patients.

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Authors and Affiliations

  1. Medical Biochemistry Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt

    Amal S. El-Shal, Sally M. Shalaby & Nader M. Aly

  2. Internal Medicine Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt

    Nearmeen M. Rashad

  3. Obstetrics and Gynecology Department, Faculty of Medicine, Benha University, Benha, Egypt

    Ahmed M. Abdelaziz

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  1. Amal S. El-Shal
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  2. Sally M. Shalaby
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Correspondence to Sally M. Shalaby.

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El-Shal, A.S., Shalaby, S.M., Aly, N.M. et al. Genetic variation in the vitamin D receptor gene and vitamin D serum levels in Egyptian women with polycystic ovary syndrome. Mol Biol Rep 40, 6063–6073 (2013). https://doi.org/10.1007/s11033-013-2716-y

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