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Frequency of the C677T Polymorphism of MTHFR, G20210A of Prothrombin and R506Q of Factor V Leiden in Type 2 Diabetics in Abidjan

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Open Journal of Genetics 2024年第1期14卷 13-25页

作者： N’Guessan-Blao Rebecca Yapo Vincent Yayo-Ayé Mireille adjambri eusèbe Koné-Koné Fatoumata Sawadogo Duni Hematology and General Biology Unit Faculty of Pharmaceutical and Biological Sciences Department of Biological Sciences Felix Houphouet-Boigny University Abidjan Ivory Coast Laboratory of Biology and Medical Research National Institute of Public Health (INSP) Abidjan Ivory Coast Molecular Biology Unit Center for Diagnosis and Research on AIDS and Other Infectious Diseases (CeDReS) Treichville University Hospital (CHU) Abidjan Ivory Coast

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.

关键词： Type 2 Diabetes C677T of MTHFR G20210A Factor V Leiden Thrombosis

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Influence of Hemoglobin S Haplotypes on the Responses to Hydroxyurea Treatment in Children with Sickle Cell Disease in Abidjan, Côte d’Ivoire

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Open Journal of Genetics 2024年第1期14卷 1-12页

作者： Mireille Aye-Yayo Vincent Yapo Boidy Kouakou Missa Louis Adjé Adia eusèbe adjambri Ebah Hermance Kassi Taïratou Kamagate Duni Sawadogo Hematology Unit Central Laboratory of the Teaching Hospital of Yogoupon Abidjan C&#244te d’Ivoire Hematology and Cell Biology Unit Laboratory of Biological Sciences Department of Pharmacy Felix Houphouet Boigny University Abidjan C&#244te d’Ivoire Molecular Biology Unit Center for Diagnostic and Research on AIDS and Other Infectious Diseases (CeDReS) Teaching Hospital of Treichville Abidjan C&#244te d’Ivoire Clinical Hematology Unit Teaching Hospital of Yogoupon Abidjan C&#244te d’Ivoire

Background: In Côte d’Ivoire so far, the circulating haplotypes have been inferred on the phenotypic profiling of SCD patients. The impact of the circulating haplotypes on the use of Hydroxyurea has not been assessed yet. Therefore the objective of this study is to identify in Abidjan the HbS haplotypes that modulate HU treatment responses. Methods: In a cross-sectional descriptive and analytical study, children aged 5 to 15 years with SCD, and carrying the hemoglobin phenotypes SSFA2 and SFA2, were recruited into a HU treatment cohort. Various parameters on the haplotypes and the outcomes of the treatment were analyzed. Results: Thirty nine children with SCD were included. The phenotypic profile of the cohort was 86.6% of SSFA2 and 15.4% of SFA2. Three haplotypes were found, the Benin haplotype, the Senegal haplotype, and an atypical one. The participants belonged to three genotypes, Benin/atypical (64.1%), Benin/Senegal (33.3%) and Senegal/Senegal (2.6%). Overall, HU treatment was successful in all haplotypes with 12 out of 39 patients failing treatment after 12 months in the Benin haplotype group. The association between HU treatment success and the Benin haplotype was found in terms of the decrease in the number of white blood cells and the students missing class. Conclusion: The study revealed that inferring haplotype based on the phenotypic profile could be inaccurate. The proportion of atypical haplotype that were not previously described in Côte d’Ivoire was high. All the haplotypes seemed to be associated with HU treatment success but some patients with Benin haplotype did not respond well.

关键词： Sickle Cell Disease Children Haplotype Hydroxyurea Côte d’Ivoire

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Frequency of the C677T Polymorphism of MTHFR, G20210A of Prothrombin and R506Q of Factor V Leiden in Type 2 Diabetics in Abidjan

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Open Journal of Genetics（遗传学期刊） 2024年第1期 13页

作者： N’Guessan-Blao Rebecca Yapo Vincent Yayo-Ayé Mireille adjambri eusèbe Koné-Koné Fatoumata Sawadogo Duni

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Influence of Hemoglobin S Haplotypes on the Responses to Hydroxyurea Treatment in Children with Sickle Cell Disease in Abidjan, Côte d’Ivoire

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Open Journal of Genetics（遗传学期刊） 2024年第1期 1页

作者： Mireille Aye-Yayo Vincent Yapo Boidy Kouakou Missa Louis Adjé Adia eusèbe adjambri Ebah Hermance Kassi Taïratou Kamagate Duni Sawadogo

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