MTHFR C677T and Factor V Leiden in Recurrent Pregnancy Loss: A Study Among an Endogamous Group in North India

作者：Mukhopadhyay Rupak^*; Saraswathy Kallur N; Ghosh Pradeep K

来源：Genetic Testing and Molecular Biomarkers, 2009, 13(6): 861-865.

DOI：10.1089/gtmb.2009.0063

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

• 出版日期2009-12