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GWAS Study

Genome-Wide Meta-analysis identifies three novel loci associated with stroke.

Malik R, Rannikmäe K, Traylor M et al.

30383316 PubMed ID
GWAS Study Type
887838 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

MR
Malik R
RK
Rannikmäe K
TM
Traylor M
GM
Georgakis MK
SM
Sargurupremraj M
MH
Markus HS
HJ
Hopewell JC
DS
Debette S
SC
Sudlow CLM
DM
Dichgans M
Chapter II

Abstract

Summary of the research findings

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.

37,845 European ancestry cases, 26,124 cases, 775,530 European ancestry controls, 48,339 controls

Chapter III

Study Statistics

Key metrics and study information

887838
Total Participants
GWAS
Study Type
No
Replicated
South Asian, East Asian, Asian unspecified, African American or Afro-Caribbean, Hispanic or Latin American, European
Ancestry
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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