Key result
Variant SNPs in nNOS, renalase, MTHFR, CELSR1, and XYLB linked to ischemic stroke predisposition.
Why the study?
Previous studies on ischemic stroke genetics yielded inconsistent conclusions regarding specific gene associations in the Chinese population.
Are specific genetic polymorphisms associated with increased predisposition to ischemic stroke in a Chinese population?
Observational (n=743)
Are specific genetic polymorphisms associated with increased predisposition to ischemic stroke in a Chinese population?
Specific SNPs in genes related to vascular physiology (nNOS, renalase, MTHFR, CELSR1, XYLB) are associated with ischemic stroke risk in Chinese patients.
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.
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Zhang et al. (2015) conducted an observational in ischemic stroke (n=743). Variant SNPs in nNOS, renalase, MTHFR, CELSR1 and XYLB genes was evaluated on predisposition to ischemic stroke. Variant SNPs in nNOS, renalase, MTHFR, CELSR1, and XYLB genes were significantly associated with a predisposition to ischemic stroke in a Chinese population.
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