title: Pooled genetic analysis reveals an association of SNPs of only a few genes with risk predisposition to ischemic stroke in a Chinese population.
abstract: Up to date, series of studies on ischemic stroke had resulted in inconsistent conclusion. In this study, we aimed to evaluate which specific genes were associated with increased predisposition to stroke in a Chinese population. To identify the specific genes and polymorphisms associated with predisposition to ischemic stroke, we performed high throughput sequenom based next-generation sequencing from 743 patient with history of ischemic stroke. Variants SNPs in nNOS, renalase, MTHFR, CELSR1 and XYLB genes were found significantly associated with IS, thus suggesting involvement of these loci to IS in Chinese patients. Because of different locations on chromosomes, haplotype analyses were not feasible. Our results demonstrate the top level genes that are related to normal vascular physiology, viz. genes of nitric oxide synthesis, endothelial health and smooth muscle biology. Further validation studies are awaited.
authors: Key Laboratory of Preclinical Study for New Drugs of Gansu Province, School of Basic Medical Sciences, Lanzhou University, Lanzhou, China; Department of Neurology, School Hospital of Lanzhou University, Lanzhou, China.
authors: Zhenchang
authors: Z
authors: Zhang
authors: Gang
authors: G
authors: Su
authors: Jia
authors: J
authors: Guo
authors: Jiong
authors: J
authors: Li
authors: Hua
authors: H
authors: Wu
authors: Manxia
authors: M
authors: Wang
authors: Xiaodong
authors: X
authors: Xie
mesh_terms: D044466:Asian People; D015820:Cadherins / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D007511:Ischemia / Q000235:genetics; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008995:Monoamine Oxidase / Q000235:genetics; D052248:Nitric Oxide Synthase Type I / Q000235:genetics; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D020521:Stroke / Q000235:genetics*
chemical_list: C454220:CELSR1 cadherin, human; D015820:Cadherins; D052248:Nitric Oxide Synthase Type I; D008995:Monoamine Oxidase; C521557:renalase; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D017853:Phosphotransferases (Alcohol Group Acceptor); C032700:xylulokinase
keywords: SNP; ischemic stroke; nNOS; personalized medicine; renalase; risk stratification