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Is MTHFR 677 C>T Polymorphism Clinically Important in Polycystic Ovarian Syndrome (PCOS)? A Case-Control Study,

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The 5,10-methylene tetrahydrofolate reductase (MTHFR) gene 677 C>T polymorphism is not associated with Polycystic Ovary Syndrome (PCOS) in Indian populations. Previous meta-analyses showing an association were influenced by outlier studies and deviations from Hardy-Weinberg equilibrium.

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Area of Science:

  • Genetics
  • Reproductive Health
  • Nutritional Biochemistry

Background:

  • The folate pathway is crucial for ovarian function.
  • The MTHFR gene 677 C>T substitution reduces enzyme activity by approximately 50%.
  • Previous studies on MTHFR 677 C>T and PCOS have yielded inconclusive results due to low statistical power.

Purpose of the Study:

  • To investigate the association between the MTHFR 677 C>T polymorphism and PCOS in Indian populations.
  • To clarify the clinical significance of this polymorphism in PCOS etiology.

Main Methods:

  • Case-control study of 261 PCOS cases and 256 controls from India, with ethnic subgroup analysis.
  • Homocysteine level assessment in cases and controls.
  • Meta-analysis of 960 cases and 1028 controls, including trial sequential analysis.
  • Investigation of Hardy-Weinberg equilibrium in meta-analysis studies.

Main Results:

  • No significant association was found between MTHFR 677 C>T and PCOS in the Indian cohort (OR = 1.11, P = 0.66).
  • Homocysteine levels did not significantly differ between PCOS cases and controls.
  • Meta-analysis initially suggested an association (OR = 1.47, P = 0.032), but trial sequential analysis and scrutiny of studies deviating from Hardy-Weinberg equilibrium indicated no clinical significance.

Conclusions:

  • The MTHFR 677 C>T polymorphism does not appear to increase PCOS risk in the Indian population.
  • The apparent association in previous meta-analyses is likely due to outlier studies and those not in Hardy-Weinberg equilibrium, suggesting the polymorphism has no clinical relevance for PCOS.