目的探讨亚甲基四氢叶酸还原酶(MTHFR)C677T多态性与脑白质高信号(WMH)的关联性。方法检索PubMed、Embase、Cochrane系统评价数据库、中国知网、万方数据库,查找有关MTHFR C677T变异与WMH相关性的研究,检索时限自建库至2024年12月31日...目的探讨亚甲基四氢叶酸还原酶(MTHFR)C677T多态性与脑白质高信号(WMH)的关联性。方法检索PubMed、Embase、Cochrane系统评价数据库、中国知网、万方数据库,查找有关MTHFR C677T变异与WMH相关性的研究,检索时限自建库至2024年12月31日。使用Stata 13.0软件进行统计学分析。结果最终纳入10项病例对照研究,共1813例WMH患者和2567名对照者。Meta分析结果显示,在等位基因模型(T vs C)、显性模型(TT+CT vs CC)与纯合子对比模型(TT vs CC)中,MTHFR C677T多态性与WMH风险显著相关(OR=1.25,95%CI 1.05~1.49;OR=1.22,95%CI 1.05~1.42;OR=1.50,95%CI 1.06~2.12),但在隐性模型(TT vs CT+CC)与杂合子与野生型纯合子对比模型(CT vs CC)中,MTHFR C677T多态性与WMH风险无显著相关性。在亚洲人群中,等位基因模型(T vs C)和纯合子对比(TT vs CC)具有显著风险效应(OR=1.27,95%CI 1.03~1.57;OR=1.52,95%CI 1.01~2.30);欧洲人群显性模型(TT+CT vs CC)同样显示风险增加趋势(OR=1.51,95%CI 1.01~2.25)。影像检查标准亚组分析表明,MRI亚组显性模型接近显著性(OR=1.22,95%CI 0.96~1.55),而CT/MRI亚组各模型均未呈现显著关联。Meta回归分析提示,种族、影像检查标准及HWE状态对异质性的影响均无统计学意义(P>0.05)。经Begg检验、Egger检验联合漏斗图评估发现,隐性模型Egger′s检验结果和纯合子对比模型Egger′s检验结果存在显著发表偏倚(P<0.05)。结论不同遗传模型下,MTHFR C677T多态性与WMH的相关性存在差异,但具体关联尚未完全明确。展开更多
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
文摘目的探讨亚甲基四氢叶酸还原酶(MTHFR)C677T多态性与脑白质高信号(WMH)的关联性。方法检索PubMed、Embase、Cochrane系统评价数据库、中国知网、万方数据库,查找有关MTHFR C677T变异与WMH相关性的研究,检索时限自建库至2024年12月31日。使用Stata 13.0软件进行统计学分析。结果最终纳入10项病例对照研究,共1813例WMH患者和2567名对照者。Meta分析结果显示,在等位基因模型(T vs C)、显性模型(TT+CT vs CC)与纯合子对比模型(TT vs CC)中,MTHFR C677T多态性与WMH风险显著相关(OR=1.25,95%CI 1.05~1.49;OR=1.22,95%CI 1.05~1.42;OR=1.50,95%CI 1.06~2.12),但在隐性模型(TT vs CT+CC)与杂合子与野生型纯合子对比模型(CT vs CC)中,MTHFR C677T多态性与WMH风险无显著相关性。在亚洲人群中,等位基因模型(T vs C)和纯合子对比(TT vs CC)具有显著风险效应(OR=1.27,95%CI 1.03~1.57;OR=1.52,95%CI 1.01~2.30);欧洲人群显性模型(TT+CT vs CC)同样显示风险增加趋势(OR=1.51,95%CI 1.01~2.25)。影像检查标准亚组分析表明,MRI亚组显性模型接近显著性(OR=1.22,95%CI 0.96~1.55),而CT/MRI亚组各模型均未呈现显著关联。Meta回归分析提示,种族、影像检查标准及HWE状态对异质性的影响均无统计学意义(P>0.05)。经Begg检验、Egger检验联合漏斗图评估发现,隐性模型Egger′s检验结果和纯合子对比模型Egger′s检验结果存在显著发表偏倚(P<0.05)。结论不同遗传模型下,MTHFR C677T多态性与WMH的相关性存在差异,但具体关联尚未完全明确。
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.
