title: Association between Glu298Asp/677C-T single nucleotide polymorphism in the eNOS/MTHRF gene and blood stasis syndrome of ischemic stroke.
abstract: Blood stasis syndrome of ischemic stroke (BSS-IS) is a common clinical phenotype that may be affected by certain mutagenic environmental factors or chemotherapeutic drugs; however, the role of susceptibility genes remains unclear. Previous studies have shown that ischemic stroke (IS) was closely associated with the Glu298Asp polymorphism in the eNOS gene and the 677C-T (Ala→Val) polymorphism in methylenetetrahydrofolate reductase (MTHRF) gene. Therefore, these two single nucleotide polymorphisms (SNPs) were selected to detect their associations with BSS-IS in this study. A SNP chip was employed to screen the SNP variation between both groups, and the results were verified using denaturing high-performance liquid chromatography (DHPLC) and restriction fragment length polymorphism (RFLP). The results confirmed that the TT genotype of Glu298Asp in the eNOS gene may be one of the risk factors associated with BSS-IS, while the genotype of 677C-T (Ala→Val) in the MTHRF gene may not be relevant to BSS-IS.
authors.affiliation: Institute of Basic Research in Clinical Medicine, China Academy of Chinese Medical Sciences, Beijing 100700, China.
authors.forename: Lihui
authors.initials: L
authors.lastname: Xiong
authors.forename: Mulin
authors.initials: M
authors.lastname: Hu
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Zhang
authors.forename: Zhiwei
authors.initials: Z
authors.lastname: Jing
authors.forename: Tao
authors.initials: T
authors.lastname: Li
authors.forename: Guoxin
authors.initials: G
authors.lastname: Li
authors.forename: Jun
authors.initials: J
authors.lastname: Liu
authors.forename: Yanan
authors.initials: Y
authors.lastname: Yu
authors.forename: Fanyun
authors.initials: F
authors.lastname: Meng
authors.forename: Zhong
authors.initials: Z
authors.lastname: Wang
mesh_terms: D000368:Aged; D001224:Aspartic Acid / Q000235:genetics*; D001483:Base Sequence; D002545:Brain Ischemia / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D017931:DNA Primers; D005260:Female; D018698:Glutamic Acid / Q000235:genetics*; D006487:Hemostasis / Q000235:genetics*; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000737:chemistry / Q000235:genetics*; D008875:Middle Aged; D052250:Nitric Oxide Synthase Type III / Q000737:chemistry / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D020521:Stroke / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology
chemical_list: D017931:DNA Primers; D001224:Aspartic Acid; D018698:Glutamic Acid; D052250:Nitric Oxide Synthase Type III; D042965:Methylenetetrahydrofolate Reductase (NADPH2)