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Review
. 2016 Dec;18(12):124.
doi: 10.1007/s11886-016-0804-z.

Genetic Risk Factors for Ischemic and Hemorrhagic Stroke

Ganesh Chauhan  1   2   3 , Stéphanie Debette  4   5   6
Affiliations
Review

Genetic Risk Factors for Ischemic and Hemorrhagic Stroke

Ganesh Chauhan et al. Curr Cardiol Rep. 2016 Dec.

Abstract

Understanding the genetic risk factors for stroke is an essential step to decipher the underlying mechanisms, facilitate the identification of novel therapeutic targets, and optimize the design of prevention strategies. A very small proportion of strokes are attributable to monogenic conditions, the vast majority being multifactorial, with multiple genetic and environmental risk factors of small effect size. Genome-wide association studies and large international consortia have been instrumental in finding genetic risk factors for stroke. While initial studies identified risk loci for specific stroke subtypes, more recent studies also revealed loci associated with all stroke and all ischemic stroke. Risk loci for ischemic stroke and its subtypes have been implicated in atrial fibrillation (PITX2 and ZFHX3), coronary artery disease (ABO, chr9p21, HDAC9, and ALDH2), blood pressure (ALDH2 and HDAC9), pericyte and smooth muscle cell development (FOXF2), coagulation (HABP2), carotid plaque formation (MMP12), and neuro-inflammation (TSPAN2). For hemorrhagic stroke, two loci (APOE and PMF1) have been identified.

Keywords: Genome-wide association studies; Hemorrhagic stroke; Ischemic stroke; Multifactorial; Stroke.

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Conflict of interest statement

Compliance with Ethical StandardsConflict of InterestGanesh Chauhan and Stéphanie Debette declare that they have no conflict of interest.Human and Animal Rights and Informed ConsentThis article does not contain any studies with human or animal subjects performed by any of the authors.

Figures

Fig. 1
Fig. 1
Heterogeneity of the stroke phenotype. Numbers are taken from the latest statement of the American Heart Association/American Stroke Association [116]
Fig. 2
Fig. 2
Genetic risk factors for stroke can act at various levels, example for ischemic stroke. Left side Risk loci identified to be associated with ischemic stroke. Right side Theoretical mechanisms by which genetic factors may modulate ischemic stroke risk
See this image and copyright information in PMC

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References

    1. Johnston SC, Mendis S, Mathers CD. Global variation in stroke burden and mortality: estimates from monitoring, surveillance, and modelling. Lancet Neurol. 2009;8:345–354. doi: 10.1016/S1474-4422(09)70023-7. - DOI - PubMed
    1. Gorelick PB, Scuteri A, Black SE, et al. Vascular contributions to cognitive impairment and dementia: a statement for healthcare professionals from the American heart association/American stroke association. Stroke. 2011;42:2672–2713. doi: 10.1161/STR.0b013e3182299496. - DOI - PMC - PubMed
    1. Viswanathan A, Rocca WA, Tzourio C. Vascular risk factors and dementia: how to move forward? Neurology. 2009;72:368–374. doi: 10.1212/01.wnl.0000341271.90478.8e. - DOI - PMC - PubMed
    1. Pendlebury ST, Rothwell PM. Prevalence, incidence, and factors associated with pre-stroke and post-stroke dementia: a systematic review and meta-analysis. Lancet Neurol. 2009;8:1006–1018. doi: 10.1016/S1474-4422(09)70236-4. - DOI - PubMed
    1. Greenberg SM. Small vessels, big problems. N Engl J Med. 2006;354:1451–1453. doi: 10.1056/NEJMp068043. - DOI - PubMed

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