MTR, MTRR and CBS Gene Polymorphisms in Recurrent Miscarriages: A Case Control Study from North India

Area of Science:

• Reproductive Medicine
• Human Genetics
• Epidemiology

Background:

• Recurrent miscarriage (RM) has a multifactorial etiology.
• Genetic factors are increasingly recognized as contributors to RM.
• Understanding these genetic links is crucial for reproductive health.

Purpose of the Study:

• To investigate the association between specific genetic polymorphisms and RM.
• To evaluate the role of 5-Methytetrahydrofolate-Homocysteine Methyltransferase (MTR) A2756G, 5-Methytetrahydrofolate-Homocysteine Methyltransferase Reductase (MTRR) A66G, and cystathionine beta-synthase (CBS) 844INS68.
• To assess the combined effects of these genotypes on RM risk.

Main Methods:

• A hospital-based, case-control, observational study.
• Recruitment of 200 RM cases and 258 controls (total 516 participants).
• Screening of fasting blood samples for MTR A2756G, MTRR A66G, and CBS 844INS68 polymorphisms using SPSS for analysis.

Main Results:

• MTR A2756G polymorphism showed no association with RM risk.
• The ancestral allele of MTRR A66G and the mutant allele of CBS 844INS68 were associated with a >2-fold increased risk of RM.
• A combination of CBS 844INS68 and MTR A2756G also posed a >2-fold increased risk.

Conclusions:

• MTRR A66G and CBS 844INS68 genetic polymorphisms appear to elevate RM risk.
• These genetic variations may contribute to women's susceptibility to recurrent miscarriages.
• Further research into genetic contributions to RM is warranted.