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We conducted a European-only and transancestral genome-wide association meta-analysis in 72,147 stroke patients and 823,869 controls using data from UK Biobank (UKB) and the MEGASTROKE consortium. We identified an exonic polymorphism in NOS3 (rs1799983, p.Glu298Asp; p = 2.2E-8, odds ratio [OR] = 1.05, 95% confidence interval [CI] = 1.04-1.07) and variants in an intron of COL4A1 (rs9521634; p = 3.8E-8, OR = 1.04, 95% CI = 1.03-1.06) and near DYRK1A (rs720470; p = 6.1E-9, OR = 1.05, 95% CI = 1.03-1.07) at genome-wide significance for stroke. Effect sizes of known stroke loci were highly correlated between UKB and MEGASTROKE. Using Mendelian randomization, we further show that genetic variation in the nitric oxide synthase-nitric oxide pathway in part affects stroke risk via variation in blood pressure. Ann Neurol 2018;84:934-939.

Original publication




Journal article


Annals of neurology

Publication Date





934 - 939


Institute for Stroke and Dementia Research, University Hospital, Ludwig Maximilian University of Munich, Munich, Germany.


MEGASTROKE consortium and the International Stroke Genetics Consortium, Humans, Genetic Predisposition to Disease, Protein-Serine-Threonine Kinases, Collagen Type IV, Risk Factors, Gene Frequency, Databases, Factual, Europe, Nitric Oxide Synthase Type III, Protein-Tyrosine Kinases, Stroke, Genome-Wide Association Study, Mendelian Randomization Analysis