TY - JOUR
T1 - Genetic susceptibility to ischemic stroke
AU - Meschia, James F.
AU - Worrall, Bradford B.
AU - Rich, Stephen S.
N1 - Funding Information:
J. F. Meschia, S. S. Rich and B. B. Worrall receive support from the Siblings with Ischemic Stroke Study (National Institute of Neurological Disorders and Stroke [NINDS] grant code R01 NS39987) and the NINDS Stroke Genetics Network. S. S. Rich also receives support from the US National Heart, Lung and Blood Institute Exome Project, and B. B. Worrall receives support from the Genomics and Randomized Trials Network.
PY - 2011/7
Y1 - 2011/7
N2 - Clinicians who treat patients with stroke need to be aware of several single-gene disorders that have ischemic stroke as a major feature, including sickle cell disease, Fabry disease, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, and retinal vasculopathy with cerebral leukodystrophy. The reported genome-wide association studies of ischemic stroke and several related phenotypes (for example, ischemic white matter disease) have shown that no single common genetic variant imparts major risk. Larger studies with samples numbering in the thousands are ongoing to identify common variants with smaller effects on risk. Pharmacogenomic studies have uncovered genetic determinants of response to warfarin, statins and clopidogrel. Despite increasing knowledge of stroke genetics, incorporating this new knowledge into clinical practice remains a challenge. The goals of this article are to review common single-gene disorders relevant to ischemic stroke, summarize the status of candidate gene and genome-wide studies aimed at discovering genetic stroke risk factors, and to briefly discuss pharmacogenomics related to stroke treatment.
AB - Clinicians who treat patients with stroke need to be aware of several single-gene disorders that have ischemic stroke as a major feature, including sickle cell disease, Fabry disease, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, and retinal vasculopathy with cerebral leukodystrophy. The reported genome-wide association studies of ischemic stroke and several related phenotypes (for example, ischemic white matter disease) have shown that no single common genetic variant imparts major risk. Larger studies with samples numbering in the thousands are ongoing to identify common variants with smaller effects on risk. Pharmacogenomic studies have uncovered genetic determinants of response to warfarin, statins and clopidogrel. Despite increasing knowledge of stroke genetics, incorporating this new knowledge into clinical practice remains a challenge. The goals of this article are to review common single-gene disorders relevant to ischemic stroke, summarize the status of candidate gene and genome-wide studies aimed at discovering genetic stroke risk factors, and to briefly discuss pharmacogenomics related to stroke treatment.
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U2 - 10.1038/nrneurol.2011.80
DO - 10.1038/nrneurol.2011.80
M3 - Review article
C2 - 21629240
AN - SCOPUS:79960081642
SN - 1759-4758
VL - 7
SP - 369
EP - 378
JO - Nature Reviews Neurology
JF - Nature Reviews Neurology
IS - 7
ER -