TITLE:
Frequency of the C677T Polymorphism of MTHFR, G20210A of Prothrombin and R506Q of Factor V Leiden in Type 2 Diabetics in Abidjan
AUTHORS:
N’Guessan-Blao Rebecca, Yapo Vincent, Yayo-Ayé Mireille, Adjambri Eusèbe, Koné-Koné Fatoumata, Sawadogo Duni
KEYWORDS:
Type 2 Diabetes, C677T of MTHFR, G20210A, Factor V Leiden, Thrombosis
JOURNAL NAME:
Open Journal of Genetics,
Vol.14 No.1,
March
21,
2024
ABSTRACT: In Africa, the prevalence of
diabetes is escalating and remains a concern due to the numerous complications
it causes. Vascular damage associated with diabetes leads to a prothrombotic
state observed in diabetic individuals. Diabetes is a complex and
multifactorial disease involving genetic components. With the aim of preventing
complications and contributing to an efficient management of diabetes, we
investigated genes likely to lead to a risk of thrombosis, in particular the C677T
of MTHFR, G20210A of prothrombin, and R506Q of factor V Leiden in type 2
diabetics in Abidjan receiving ambulatory care. A descriptive cross-sectional
study was carried out on consenting type 2 diabetic patients. Mutation
detection was carried out using the PCR-RFLP method employing restriction enzymes.
Hemostasis tests (fibrinogen, D-dimers, fibrin monomers, and von Willebrand
factor) were performed using citrate tubes on the Stage? Star Max automated
system. Plasminogen activator inhibitor was assayed by ELISA method, and
biochemical parameters were determined using the COBAS C311. The study
population consisted of 45 diabetic patients, 51.1% of whom presented vascular
complications, mainly neuropathy. Disturbances in hemostasis parameters were
observed, with 15.5% of patients showing an increase in fibrin monomers.
Mutation analysis revealed an absence of factor V mutation (factor V Leiden)
and of G20210A mutation of the prothrombin gene. However, 15.6% of subjects had
a heterozygous C677T mutation of MTHFR, with 57% of them being anemic. The exploration of biological and genetic factors
associated with thrombotic risk is of significant interest in the optimal
management of African type 2 diabetics.