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Common coding variant in SERPINA1 increases the risk for large artery stroke

Abstract:

Large artery atherosclerotic stroke (LAS) shows substantial heritability not explained by previous genome-wide association studies. Here, we explore the role of coding variation in LAS by analyzing variants on the HumanExome BeadChip in a total of 3,127 cases and 9,778 controls from Europe, Australia, and South Asia. We report on a nonsynonymous single-nucleotide variant in serpin family A member 1 (SERPINA1) encoding alpha-1 antitrypsin [AAT; p.V213A; P = 5.99E-9, odds ratio (OR) = 1.22] and...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1073/pnas.1616301114

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Role:
Author
ORCID:
0000-0003-0251-9490
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Medical Research Council More from this funder
Publisher:
National Academy of Sciences Publisher's website
Journal:
Proceedings of the National Academy of Sciences Journal website
Volume:
114
Issue:
14
Pages:
3613-3618
Publication date:
2017-03-06
Acceptance date:
2017-02-08
DOI:
EISSN:
1091-6490
ISSN:
0027-8424
Pmid:
28265093
Source identifiers:
685636

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