Association of methylenetetrahydrofolate reductase C677T gene polymorphism and polycystic ovary syndrome in the South Indian cohort

Sekar, Nishu ; Samak, Radhika ; Patil, Shreya ; Ghorpade, Neha ; Abilash, Valsala Gopalakrishnan


The polycystic ovarian syndrome is the utmost common endocrinopathy state in women. It is related to both reproductive and metabolic disorders. The MTHFR gene associated with the ovarian follicular action encodes the 5-MTHFR (methylenetetra-hydrofolate reductase) enzyme, tangled in folate metabolism. MTHFR gene C677T polymorphism declines the enzyme activity and thus folate deficit and increases the level of homocysteine, which affects the progress of oocytes. Here, we evaluated the association of MTHFR gene C677T polymorphism withPolycystic ovary syndrome (PCOS) inthe South Indian cohortof women. About 129 PCOS women with following Rotterdam criteria and 90 women controls were studied. PCR-RFLP technique was carried out on all PCOS women in this study. Dissimilarities in hormone levels in PCOS patients were detected. MTHFR gene polymorphism CC, CT, TT genotype was found to be 74, 16, 9.30% in patients correspondingly. However, in controls, it was 44.4, 24, 31%, respectively. A substantial difference was detected in the genotype frequency distributions among the patients and controls. Also, allele frequency was shown as 82.95% C allele and 17.83% T allele and 56.67%, 43.33% for C, and T allele in controls correspondingly. Our resultsindicate a possible association and suggest that MTHFR C677T polymorphism can be used as a potential biomarker for PCOS progress in the South Indian women.


Follicle-stimulating hormone, Luteinizing hormone, Metabolic syndromes, PCOS

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