title: [Genetic mutations of homocysteine metabolism related enzymes in patients with ischemic stroke].
abstract: To study genetic mutations of methylenetetrahydrofolate reductase (MTHFR) C677T and cystathionine-beta-synthase (CBS) T833C related to homocysteine metabolism in patients with ischemic stroke, the MTHFR gene C677T gene mutation and the CBS T833C gene mutation were detected by PCR-RFLP or ARMS method in 74 patients with ischemic stroke and 83 normal people for control. Results showed that the frequencies of MTHFR T homogenetic type (2.7%) , heterogenetic type (51.4%) and T allele (28.4%) in ischemic group were higher than those in control group (1.2%, 39.8% and 21.1%, respectively). The frequencies of CBS C homogenetic type (13.5%) and C allele (43.9%) in ischemic group were higher than those in control group (6.0% and 38.0%, respectively). Multiple Logistic Regression analysis showed that together with the T allele in MTHFR, the C allele in CBS and age were related to ischemic stroke (P<0.05). The odds ratios (OR) of the T allele in MTHFR C677T and the C allele in CBS T833C were 1.74 (95%CI 1.06-2.86) and 1.73 (95%CI 1.07-2.81) respectively. The study revealed that the genetic mutations of MTHFR C677T, CBS T833C,were related with the ischemic stroke. The genetic mutations of MTHFR C677T and CBS T833C may be genetic factors for ischemic stroke.
authors.affiliation: Department of Neurology, First Hospital Affilated with Medical College of Jinan University, Guangzhou 510 630, China. dennisng@21cn.com
authors.forename: Jun-Min
authors.initials: JM
authors.lastname: Wu
authors.forename: Tong-Ge
authors.initials: TG
authors.lastname: Wang
authors.forename: Yue-Qin
authors.initials: YQ
authors.lastname: Li
authors.forename: Xue-Wen
authors.initials: XW
authors.lastname: Song
authors.forename: Yong-Yi
authors.initials: YY
authors.lastname: Liu
authors.forename: Hong-Ruo
authors.initials: HR
authors.lastname: Yun
authors.forename: Zhen-Yu
authors.initials: ZY
authors.lastname: Zhong
authors.forename: Tian-Hong
authors.initials: TH
authors.lastname: Zhou
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D003541:Cystathionine beta-Synthase / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006710:Homocysteine / Q000378:metabolism*; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D017354:Point Mutation; D020521:Stroke / Q000235:genetics*
chemical_list: D006710:Homocysteine; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D003541:Cystathionine beta-Synthase