COL4A2 is associated with lacunar ischemic stroke and deep ICH: Meta-analyses among 21,500 cases and 40,600 controls

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title = "COL4A2 is associated with lacunar ischemic stroke and deep ICH: Meta-analyses among 21,500 cases and 40,600 controls",
abstract = "Objective: To determine whether common variants in familial cerebral small vessel disease (SVD) genes confer risk of sporadic cerebral SVD. Methods: We meta-analyzed genotype data from individuals of European ancestry to determine associations of common single nucleotide polymorphisms (SNPs) in 6 familial cerebral SVD genes (COL4A1, COL4A2, NOTCH3, HTRA1, TREX1, and CECR1) with intracerebral hemorrhage (ICH) (deep, lobar, all; 1,878 cases, 2,830 controls) and ischemic stroke (IS) (lacunar, cardioembolic, large vessel disease, all; 19,569 cases, 37,853 controls). We applied data quality filters and set statistical significance thresholds accounting for linkage disequilibrium and multiple testing. Results: A locus in COL4A2 was associated (significance threshold p , 3.5 3 1024) with both lacunar IS (lead SNP rs9515201: odds ratio [OR] 1.17, 95%confidence interval [CI] 1.11-1.24, p 56.62 31028) and deep ICH (lead SNP rs4771674: OR 1.28, 95%CI 1.13-1.44, p 55.76 3 1025). A SNP in HTRA1 was associated (significance threshold p , 5.5 3 1024) with lacunar IS (rs79043147: OR 1.23, 95%CI 1.10-1.37, p 5 1.90 3 1024) and less robustly with deep ICH. There was no clear evidence for association of common variants in either COL4A2 or HTRA1 with non-SVD strokes or in any of the other genes with any stroke phenotype.",
keywords = "COL4A2, ischemic stroke, ICH",
author = "Kristiina Rannikm{\"a}e and Vhinoth Sivakumaran and Henry Millar and Rainer Malik and Anderson, {Christopher D.} and Mike Chong and Tushar Dave and Falcone, {Guido J.} and Israel Fernandez-Cadenas and Jordi Jimenez-Conde and Arne Lindgren and Joan Montaner and Martin O'Donnell and Guillaume Par{\'e} and Farid Radmanesh and Rost, {Natalia S.} and Agnieszka Slowik and Martin S{\"o}derholm and Matthew Traylor and Pulit, {Sara L} and Sudha Seshadri and Worrall, {Brad B.} and Daniel Woo and Markus, {Hugh S.} and Mitchell, {Braxton D.} and Martin Dichgans and Jonathan Rosand and Sudlow, {Cathie L M}",
year = "2017",
month = oct,
day = "24",
doi = "10.1212/WNL.0000000000004560",
language = "English",
volume = "89",
pages = "1829--1839",
journal = "Neurology",
issn = "1526-632X",
publisher = "American Academy of Neurology",
number = "17",