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 indiv...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.展开更多
Human methylenetetrahydrofolate reductase(MTHFR),an essential enzyme in folate metabolism,catalyzes the conversion of5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate.Several polymorphisms in the MTHFR gene h...Human methylenetetrahydrofolate reductase(MTHFR),an essential enzyme in folate metabolism,catalyzes the conversion of5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate.Several polymorphisms in the MTHFR gene have been found to be associated with reduced enzyme activity and related to folic acid intake in relevant populations[1].展开更多
目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与非酒精性脂肪性肝病(NAFLD)易感性之间的关系。方法计算机检索Pub Med、Cochrane Library、万方数据知识服务平台、中国知网、中国生物医学文献数据库和维普网,收集有关MTHFR基因...目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与非酒精性脂肪性肝病(NAFLD)易感性之间的关系。方法计算机检索Pub Med、Cochrane Library、万方数据知识服务平台、中国知网、中国生物医学文献数据库和维普网,收集有关MTHFR基因多态性与NAFLD易感性关联研究的文献,检索时限为建库至2023年3月。在T vs C、TT vs CC、TT vs CT+CC、TT+CT vs CC、CT vs CC及TT vs CT基因模型下,以OR值和95%CI为效应指标,应用Stata 12.0软件进行meta分析,并对发表偏倚及敏感性分析进行检验。结果共纳入13项研究,包括5542例NAFLD患者及3699例对照。meta分析结果显示,5种遗传模型中NAFLD发生风险增加[T vs C:OR=1.29,95%CI(1.09~1.52),P=0.003;TT vs CC:OR=1.65,95%CI(1.23~2.23),P=0.001;TT vs CT+CC:OR=1.48,95%CI(1.15~1.91),P=0.003;CT+TT vs CC:OR=1.31,95%CI(1.06~1.62),P=0.013;TT vs CT:OR=1.40,95%CI(1.09~1.80),P=0.009],杂合子模型CT vs CC与NAFLD发生风险无相关性[OR=1.21,95%CI(0.98~1.48),P=0.070]。Egger检验及漏斗图结果显示无发表偏倚(P>0.05)。meta回归分析及敏感性分析未发现明显异质性来源(P>0.05)。结论MTHFR基因C667T多态性与NAFLD具有相关性,基因型为TT者NAFLD的发生风险升高。展开更多
文摘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.
基金supported by A Project Funded by the Priority Academic Program Development of Jiangsu Higher Education Institutions(PAPD)the Open-End Funds of the Jiangsu Key Laboratory of Marine Pharmaceutical Compound Screening[HY202105]。
文摘Human methylenetetrahydrofolate reductase(MTHFR),an essential enzyme in folate metabolism,catalyzes the conversion of5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate.Several polymorphisms in the MTHFR gene have been found to be associated with reduced enzyme activity and related to folic acid intake in relevant populations[1].
文摘目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与非酒精性脂肪性肝病(NAFLD)易感性之间的关系。方法计算机检索Pub Med、Cochrane Library、万方数据知识服务平台、中国知网、中国生物医学文献数据库和维普网,收集有关MTHFR基因多态性与NAFLD易感性关联研究的文献,检索时限为建库至2023年3月。在T vs C、TT vs CC、TT vs CT+CC、TT+CT vs CC、CT vs CC及TT vs CT基因模型下,以OR值和95%CI为效应指标,应用Stata 12.0软件进行meta分析,并对发表偏倚及敏感性分析进行检验。结果共纳入13项研究,包括5542例NAFLD患者及3699例对照。meta分析结果显示,5种遗传模型中NAFLD发生风险增加[T vs C:OR=1.29,95%CI(1.09~1.52),P=0.003;TT vs CC:OR=1.65,95%CI(1.23~2.23),P=0.001;TT vs CT+CC:OR=1.48,95%CI(1.15~1.91),P=0.003;CT+TT vs CC:OR=1.31,95%CI(1.06~1.62),P=0.013;TT vs CT:OR=1.40,95%CI(1.09~1.80),P=0.009],杂合子模型CT vs CC与NAFLD发生风险无相关性[OR=1.21,95%CI(0.98~1.48),P=0.070]。Egger检验及漏斗图结果显示无发表偏倚(P>0.05)。meta回归分析及敏感性分析未发现明显异质性来源(P>0.05)。结论MTHFR基因C667T多态性与NAFLD具有相关性,基因型为TT者NAFLD的发生风险升高。
