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 (PCRRFLP). 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.
Subject(s)
Genetic Variation , Polycystic Ovary Syndrome/blood , Polycystic Ovary Syndrome/genetics , Receptors, Calcitriol/genetics , Vitamin D/blood , Adult , Alleles , Case-Control Studies , Egypt , Female , Gene Frequency , Genotype , Haplotypes , Hormones/blood , Humans , Obesity/complications , Polycystic Ovary Syndrome/complications , Polymorphism, Genetic , Polymorphism, Restriction Fragment Length , Risk Factors , Young AdultABSTRACT
OBJECTIVE: To investigate whether miRNA-499 (rs3746444) and miRNA-146a (rs2910164) genes polymorphisms are independent factors for rheumatoid arthritis (RA) in Egyptians, and whether they influence disease severity and activity. METHODS: Two hundred and seventeen RA patients and 245 healthy controls were enrolled in this study. Polymorphisms of miRNA-146a and miRNA-499 genes were detected using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). RESULTS: The miRNA-499 CT genotype was an independent factor of RA. The miRNA-499 CT, CC genotypes and C allele frequencies were significantly increased in erosive RA group. Moreover, the heterozygote CT had more severe and more active form of the disease compared with homozygote CC or TT. However, we did not find any significant association of miRNA-146a polymorphism with RA risk, severity, and activity. CONCLUSION: The miRNA-499 polymorphism is an independent factor of RA, and influences disease severity and activity.
