Genetic variation in the vitamin D receptor gene and vitamin D serum levels in Egyptian women with polycystic ovary syndrome.
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.
Amal S
AS
El-Shal
Sally M
SM
Shalaby
Nader M
NM
Aly
Nearmeen M
NM
Rashad
Ahmed M
AM
Abdelaziz
D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D004534:Egypt; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006728:Hormones / Q000097:blood; D006801:Humans; D009765:Obesity / Q000150:complications; D011085:Polycystic Ovary Syndrome / Q000097:blood* / Q000150:complications / Q000235:genetics*; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D018167:Receptors, Calcitriol / Q000235:genetics*; D012307:Risk Factors; D014807:Vitamin D / Q000097:blood*; D055815:Young Adult
D006728:Hormones; D018167:Receptors, Calcitriol; D014807:Vitamin D