The association of MTHFR variants with polycystic ovary syndrome (PCOS) in Rasht

Background and Aim : Polycystic ovarian syndrome (PCOS) is a prevalent endocrinopathy among womenof a reproductive age that etiology is unknown. Changes in homocysteine levels in women with PCOS havebeen reported to be associated with the disease.The aim of this study was to determine the association ofMTHFR variants with polycystic ovary syndrome (PCOS) in Rasht.Methods : In this case-control study, 200 patients including 100 patients in control group and 100 Peoplein control group were evaluated. MTHFR polymorphism was identified by PCR-RFLP method. Data wereanalyzed by SPSS 21 software.Results : Frequency of MTHFR mutant allele in patient group (43.5%) was significantly different fromcontrol group (36.5%). Thus, individuals carrying the C allele were associated with a reduced risk ofdeveloping PCOS (P <0.001). Carriers of the T allele were also associated with an increased relative riskof PCOS (P <0.001). The prevalence of TT genotype in the patient and control groups was reported to be17% and 7%, respectively.Conclusion : Use methylene tetrahydrofolate reductase genotypic modifications as a reliable diagnostictest along with other tests to diagnose and confirm PCOS.

Keywords:

Polycystic Ovary Syndrome , Methylene Tetrahydrofolate Reductase , PCR-RFLP