• Hyungsuk Kim, Elizabeth Crago, Mirim Kim, Paula Sherwood, Yvette Conley, Samuel Poloyac, and Mary Kerr.
• National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
• Int J Stroke. 2013 Dec 1; 8 (8): 620-5.

BackgroundA typology of cerebral vasospasm has been proposed based on distinct clinical manifestations: delayed cerebral ischemia, symptomatic 'vasospasm', angiographic vasospasm, and transcranial Doppler vasospasm. We examined each distinct clinical manifestation in a nonparametric genetic association study.AimsThe purpose of this study was to examine and compare each four distinct acute clinical manifestations and test its perspectives in genetic association studies.MethodsTwo hundred forty-five Caucasian patients with sub-arachnoid hemorrhage were evaluated for these four distinct clinical manifestations along with 906 600 single-nucleotide polymorphisms across the human genome.ResultsThe four clinical manifestations were significantly associated with each other as P-values ranged from 3·31 × 10(-4) to 8·10 × 10(-15) . Transcranial Doppler vasospasm showed significant genetic association with single nucleotide polymorphism (SNP) (rs999662, P = 3·39 × 10(-8) ). Statistical P-value of rs999662 in association with delayed cerebral ischemia, symptomatic 'vasospasm', and angiographic vasospasm was 0·0017, 0·0017, and 0·19, respectively.ConclusionsDespite different criteria for each of the four clinical manifestations, they are significantly associated with each other. Our results suggest transcranial Doppler vasospasm may be an appropriate intermediate but still clinically relevant phenotype for genetic association studies. Association with SNP rs999662 indicates a potential role for the region containing the solute carrier family 12 member 3 (SLC12A3) gene in transcranial Doppler vasospasm following sub-arachnoid hemorrhage.© 2012 The Authors. International Journal of Stroke © 2012 World Stroke Organization.

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