RESUMO
Background: Premature ovarian failure (POF), is menopause occurring before the age of 40, affecting 1-3% of women worldwide. The risk of POF increases with altered immunological parameters such as FAS and FASL genes, which play a fundamental role in embryogenesis and cellular homeostasis. Objective: The study aimed to investigate the potential role of FAS and FASL genes in POF pathogenesis. Materials and Methods: In this case-control study, the polymorphisms of FAS-670A/G and FASLIVS2nt_124A/G apoptotic genes were analyzed in 51 Iranian women suffering from POF, and 61 healthy controls. Isolation of DNA was done using the salting-out method, and genotypic analysis was performed for all the subjects using the polymerase chain reaction-restriction fragment length polymorphism method. Results: Our results revealed that homozygous FAS-670A/A and G/G, and heterozygous FAS-670A/G are not significantly different between cases and controls (p = 0.99). Also, in different genotyping models of FASIVS2nt_124, polymorphisms were not related to POF risk (p = 0.23). Conclusion: There is no statistical association between these polymorphisms and POF risk in women referred to genetic counseling clinics.
RESUMO
BACKGROUND: The response to ovarian stimulation is different among women referring for assisted reproductive techniques. This difference could be due to different genotypes in genes related to reproduction such as estrogen receptor beta (ERß or ESR2) gene. OBJECTIVE: In the present study, we explored the rate of ESR2 gene polymorphism in infertile women undergoing IVF treatment with different ovarian response to ovulation induction. MATERIALS AND METHODS: A cross-sectional study was performed among 91 infertile women. The relationship between genotype distribution of the +1730 G/A polymorphism in the ESR2 gene (rs4986938) and the mean number of follicles and oocytes, their mean ratio, mean number of embryos, mean size of the follicles and pregnancy rates were measured. The ESR2 gene +1730 G/A polymorphism were identified by the amplification-refractory mutation system-polymerase chain reaction. RESULTS: Genotypes GG, GA, and AA of the ESR2 gene presented frequencies of 27.5%, 67%, and 5.5%, respectively, in the infertile women. The results of the study showed that the mean number of follicles and oocytes, their mean ratio, mean number of embryos, mean size of the follicles, and pregnancy rates are not related to different genotypes. CONCLUSION: According to the endocrine and paracrine factors which are involved in the ovulation induction and maturation of oocytes, more studies with higher number of participants are required to confirm the results of the present study; in addition, further studies are required to find out other gene polymorphisms affecting estrogen receptor efficacy in the infertile women.
