Objective: Migraine, a common chronic neurological disorder involves a pathophysiology having both multiple genetic and environmental factors. 5, 10-Methylenetetrahydrofolate reductase (MTHFR) involved in folate metab...Objective: Migraine, a common chronic neurological disorder involves a pathophysiology having both multiple genetic and environmental factors. 5, 10-Methylenetetrahydrofolate reductase (MTHFR) involved in folate metabolism has an important role in a cell for folate availability which is critical for DNA integrity. Methods: This case-control study conducted in Srinagar, Kashmir (North India) between 2013 and 2015 was designed to evaluate risk induced due to MTH-FR 677C>T gene polymorphisms to contribute in susceptibility for migraine in Kashmir population (North India). Using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, we tested the genotype distribution of 100 migraine patients in comparison with 120 healthy migraine-free controls from the same geographical region. Results: The genotypic frequencies of the patients and controls were not significantly associated (p > 0.05). Higher distribution of TT mutant genotype was found in controls as against the cases (5% versus 1%) but association was not significant (p > 0.05). Per copy frequency of T allele (Val) was found to be 0.14 in cases versus 0.19 in controls (p 0.05). Similar scenario was observed when migraine without aura was compared with controls where variant genotype (16% cases versus 39.0% controls: p > 0.05) as well as allele frequency was found to be less in cases (cases 0.15 versus 0.19 controls: p > 0.05). Conclusions: We conclude that MTHFR gene C677T polymorphism has no role in predisposition to the migraine in our population and cannot serve as a predictive factor for the risk of migraine.展开更多
目的探讨山东地区亲代亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase，MTHFR）基因677C／T多态性与子代发生非综合征性唇腭裂（nonsyndromic cleft lip with or without cleft palate，NSCL／P）的关联。方法应用聚合酶...目的探讨山东地区亲代亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase，MTHFR）基因677C／T多态性与子代发生非综合征性唇腭裂（nonsyndromic cleft lip with or without cleft palate，NSCL／P）的关联。方法应用聚合酶链反应一限制性片段长度多态性分析技术（polymerasechainreaction—restrictionfragmentlengthpolymorphism，PCR-RFLP）对2006年8月至2008年8月在齐鲁医院治疗的89对NSCL／P患者亲代和64对健康查体儿童亲代的MTHFR基因677C／T多态性进行检测。结果患者母亲与正常儿童母亲的T等位基因频率分别为65．73％和46．09％，C等位基因频率分别为34．27％和53．91％，其构成比差异有统计学意义（x2=13．663，P〈O．01）；携带T等位基因的母亲子代患NSCL／P的风险为未携带T等位基因的母亲子代的2．243倍（95％CI：1．408~3．572）。患者的父亲与正常儿童父亲的T等位基因频率分别为62．92％和55．47％；C等位基因频率分别为37．08％和44．53％，其构成比差异无统计学意义（Y。=2．222，P〉0．05）；病例组和对照组后代可能为纯合突变胎儿的机率分别为43％和29％（P〉0．05）。结论山东地区母亲的MTHFR基因677C／T突变对后代NSCL／P的发生有重要的影响；父亲的MTHFR基因677C／T突变则可能不是子代患NSCL／P的风险因素。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Objective: Migraine, a common chronic neurological disorder involves a pathophysiology having both multiple genetic and environmental factors. 5, 10-Methylenetetrahydrofolate reductase (MTHFR) involved in folate metabolism has an important role in a cell for folate availability which is critical for DNA integrity. Methods: This case-control study conducted in Srinagar, Kashmir (North India) between 2013 and 2015 was designed to evaluate risk induced due to MTH-FR 677C>T gene polymorphisms to contribute in susceptibility for migraine in Kashmir population (North India). Using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, we tested the genotype distribution of 100 migraine patients in comparison with 120 healthy migraine-free controls from the same geographical region. Results: The genotypic frequencies of the patients and controls were not significantly associated (p > 0.05). Higher distribution of TT mutant genotype was found in controls as against the cases (5% versus 1%) but association was not significant (p > 0.05). Per copy frequency of T allele (Val) was found to be 0.14 in cases versus 0.19 in controls (p 0.05). Similar scenario was observed when migraine without aura was compared with controls where variant genotype (16% cases versus 39.0% controls: p > 0.05) as well as allele frequency was found to be less in cases (cases 0.15 versus 0.19 controls: p > 0.05). Conclusions: We conclude that MTHFR gene C677T polymorphism has no role in predisposition to the migraine in our population and cannot serve as a predictive factor for the risk of migraine.
文摘目的探讨山东地区亲代亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase，MTHFR）基因677C／T多态性与子代发生非综合征性唇腭裂（nonsyndromic cleft lip with or without cleft palate，NSCL／P）的关联。方法应用聚合酶链反应一限制性片段长度多态性分析技术（polymerasechainreaction—restrictionfragmentlengthpolymorphism，PCR-RFLP）对2006年8月至2008年8月在齐鲁医院治疗的89对NSCL／P患者亲代和64对健康查体儿童亲代的MTHFR基因677C／T多态性进行检测。结果患者母亲与正常儿童母亲的T等位基因频率分别为65．73％和46．09％，C等位基因频率分别为34．27％和53．91％，其构成比差异有统计学意义（x2=13．663，P〈O．01）；携带T等位基因的母亲子代患NSCL／P的风险为未携带T等位基因的母亲子代的2．243倍（95％CI：1．408~3．572）。患者的父亲与正常儿童父亲的T等位基因频率分别为62．92％和55．47％；C等位基因频率分别为37．08％和44．53％，其构成比差异无统计学意义（Y。=2．222，P〉0．05）；病例组和对照组后代可能为纯合突变胎儿的机率分别为43％和29％（P〉0．05）。结论山东地区母亲的MTHFR基因677C／T突变对后代NSCL／P的发生有重要的影响；父亲的MTHFR基因677C／T突变则可能不是子代患NSCL／P的风险因素。
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.
