MTHFR C677T and factor V Leiden in recurrent pregnancy loss: a study among an endogamous group in North India

In our study an attempt has been made to find the prevalence of genetic thrombophilia in recurrent pregnancy loss (RPL).

Methylene tetrahydrofolate reductase C677 (MTHFR C677T) and factor V Leiden (FVL) were investigated in 84 Rajput women with two or more pregnancy losses and in 80 age- and ethnicity-matched healthy controls. Restriction digestions of polymerase chain reaction product with HinfI and Mnl I were used for MTHFR C677T and FVL polymorphism detection, respectively.

MTHFR C677T mutation was found in 9/84 patients (10.71%) and 2/80 controls (2.5%), yielding an odds ratio (OR) for RPL related to MTHFR C677T of 4.68 (95% confidence interval [CI] = 0.98-22.37; p = 0.03). FVL was found in 4/84 patients (4.76%) and none among the controls, yielding a modified OR for RPL related to FVL of 9.00 (95% CI = 0.48-169.9; p = 0.05). Both, MTHFR C677T and FVL were not found to be significantly more prevalent in patients than controls as a whole. However, MTHFR C677T showed significant association with early pregnancy loss (OR = 6.3; 95% CI = 1.22-32.85; p-value = 0.03; Bonferroni-corrected p-value = 0.04).

Our study supports the association between MTHFR C677T and patients with early RPL among north Indian Rajputs and strengthens the notion that thrombophilia plays a role in this clinical entity.