ABSTRACT
Background: Vitamin D and insulin play an important role in susceptibility to polycystic ovary syndrome [PCOS], and therefore vitamin D receptor [VDR], parathyroid hormone [PTH], and insulin receptor [INSR] gene variants might be involved in the pathogenesis of PCOS
Objective: The present study was designed to investigate the possible associations between polymorphisms in VDR, PTH, and INSR genes and the risk of PCOS
Materials and Methods: VDR, PTH, and INSR gene variants were genotyped in 35 women with PCOS and 35 controls using Polymerase chain reaction - Restriction fragment length polymorphism method. Furthermore, serum levels of glucose and insulin were measured in all participants
Results: No significant differences were observed for the VDR Fokl, VDR Tru9l, VDR TaqI, PTH Drall, INSR Nsil, and INSR Pmll gene polymorphisms between the women with PCOS and controls. However, after adjustment for confounding factors, the VDR BsmI "Bb" genotype and the VDR Apal "Aa" genotype were significantly under transmitted to the patients [p= 0.016; OR= 0.250; 95% CI= 0.081-0.769, and p= 0.017; OR= 0.260; 95% CI= 0.086-0.788, respectively]. Furthermore, in the women with PCOS, insulin levels were lower in the participants with the INSR Nsil "NN" genotype compared with those with the "Nn + nn" genotypes [P= 0.045]
Conclusion: The results showed an association between the VDR gene Bsml and Apal polymorphisms and PCOS risk. These data also indicated that the INSR "NN" genotype was a marker of decreased insulin in women with PCOS. Our findings, however, do not lend support to the hypothesis that PTH gene Drall variant plays a role in susceptibility to PCOS
ABSTRACT
Background & Objective: Fragile X syndrome is one of the most common causes of inherited mental retardation in males after Down syndrome. To date less attention was to study secondary genetic factor that may play role in fragile X neuropathology. In central nervous system, folic acid derivatives participate in different process such as neural development and function, synthesis of neurotransmitters and DNA methylation. This study aimed to assess the possible association of three common polymorphisms of folate pathway key enzymes, methylentetra hydrofolate reductase, MTHFR (C677T and A1298C), and methionine synthase reductase, MTRR (A66G), polymorphisms with the development of fragile X syndrome. Methods: Genetic polymorphisms were examined in a case-control study of 38 unrelated male patients and 60 age/sex matched unrelated controls using PCR-RFLP method. Allele frequencies and genotypes were calculated by chi-square test. Results: signifi cantly increased frequencies of the 677T allele and the 677CT genotype in patients were observed compared to control (p=0.010; OR=2.459 for T allele frequency; p=0.028; OR=2.608 for CT genotype frequency). The statistical analysis demonstrated the signifi cant correlation between C677T MTHFR polymorphism and fragile X syndrome in Iranian population (p=0.018). However, no signifi cant case-control differences were found for A1298C MTHFR and A66G MTRR polymorphisms. Conclusions: The association between C677T MTHFR polymorphism and fragile X syndrome has been demonstrated for the fi rst time in Iran population. This study may be important in better understanding of molecular pathology of fragile X syndrome. Further studies need to be undertaken to evaluate these preliminary results in other populations.