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    Alternate approach to stroke phenotyping identifies a genetic risk locus for small vessel stroke

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    Author
    McArdle, P.F.
    Kittner, S.J.
    Mitchell, B.D.
    Date
    2020
    Journal
    European Journal of Human Genetics
    Publisher
    Springer Nature
    Type
    Article
    
    Metadata
    Show full item record
    See at
    https://doi.org/10.1038/s41431-020-0580-5
    Abstract
    Ischemic stroke (IS), caused by obstruction of cerebral blood flow, is one of the leading causes of death. While neurologists agree on delineation of IS into three subtypes (cardioembolic stroke (CES), large artery stroke (LAS), and small vessel stroke (SVS)), several subtyping systems exist. The most commonly used systems are TOAST (Trial of Org 10172 in Acute Stroke Treatment) and CCS (Causative Classification System for Stroke), but agreement is only moderate. We have compared two approaches to combining the existing subtyping systems for a phenotype suited for a genome-wide association study (GWAS). We used the NINDS Stroke Genetics Network dataset (SiGN, 11,477 cases with CCS and TOAST subtypes and 28,026 controls). We defined two new phenotypes: the intersect, for which an individual must be assigned the same subtype by CCS and TOAST; and the union, for which an individual must be assigned a subtype by either CCS or TOAST. The union yields the largest sample size while the intersect yields a phenotype with less potential misclassification. We performed GWAS for all subtypes, using the original subtyping systems, the intersect, and the union as phenotypes. In each subtype, heritability was higher for the intersect compared with the other phenotypes. We observed stronger effects at known IS variants with the intersect compared with the other phenotypes. With the intersect, we identify rs10029218:G>A as an associated variant with SVS. We conclude that this approach increases the likelihood to detect genetic associations in ischemic stroke. Copyright 2020, The Author(s).
    Sponsors
    Nederlandse Organisatie voor Wetenschappelijk Onderzoek, NWO; CVON 2011/B019, 01KL1802; National Institutes of Health, NIH; Fondation Leducq: 639.072.715; Aard- en Levenswetenschappen, Nederlandse Organisatie voor Wetenschappelijk Onderzoek, ALW-NOW; National Institute of Neurological Disorders and Stroke, NINDS: R01NS100178, R01NS105150, 016.186.071, BX004672-01A1; Nederlandse Organisatie voor Wetenschappelijk Onderzoek, NWO
    Keyword
    ischemic stroke subtypes
    Brain Ischemia--genetics
    Genome-Wide Association Study
    Stroke
    Identifier to cite or link to this item
    https://www.scopus.com/inward/record.uri?eid=2-s2.0-85079451145&doi=10.1038%2fs41431-020-0580-5&partnerID=40&md5=2c5b96737ce035e29d57b11b32593358; http://hdl.handle.net/10713/12070
    ae974a485f413a2113503eed53cd6c53
    10.1038/s41431-020-0580-5
    Scopus Count
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    UMB Open Access Articles 2020

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