Background: Polycystic ovary syndrome (PCOS) is a common endocrine reproductive disorder, it can be identified by hyperandrogenism, oligomenorrhea or
anovulation and polycystic ovaries on ultrasound. Methylenetetrahydrofolate Reductase (MTHFR) C677T polymorphisms associated with hyperhomocysteinemia
are among the risk factors for PCOS.
Objective: The present case control study aims to explore the relationship between Methylenetetrahydrofolate Reductase (MTHFR) C677T polymorphisms as a risk
factor and PCOS among Jordanian patients suffering from this disease.
Methods: 306 subjects (146 PCOS patients and 160 healthy subjects as a control group) were enrolled in the study. DNA was extracted from venous blood sample
withdrawn from each participant for analyzing MTHFR C677T polymorphisms using Polymerase Chain Reaction (PCR) in combination with restriction enzyme
fragment length polymorphism (PCR-RFLP). Later, PCR-RFLP products were digested with hinfI enzyme, then, electrophoresed on a 2% agarose gel, stained and
examined under UV light. Plasma homocysteine levels were assayed using ELISA method.
Results: A significant difference was observed in plasma homocysteine levels among PCOS patients versus the control subjects and in between the different
polymorphisms of PCOS patients. No significant difference was detected in the distribution and allelic frequency of MTHFR C677T polymorphisms in PCOS
patients compared to the controls. 677/TT genotype and T allele were associated with 1.54 and 1.46 folds increase in the susceptibility for PCOS.
Conclusion: The study has shown that MTHFR T677T polymorphism and T allele are possible risk factors for PCOS among Jordanian women and may play a role
in the pathogenesis of the disease.