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.
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.
Authors: Ahmet Karatas; Recep Eroz; Mustafa Albayrak; Tulay Ozlu; Bulent Cakmak; Fatih Keskin Journal: Afr Health Sci Date: 2014-03 Impact factor: 0.927
Authors: Alexandra Bozikova; Dana Gabrikova; Jozef Pitonak; Jarmila Bernasovska; Sona Macekova; Regina Lohajova-Behulova Journal: Genet Test Mol Biomarkers Date: 2014-12-30