Journal article
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; …
Authors
Malik R; Dau T; Gonik M; Sivakumar A; Deredge DJ; Edeleva EV; Götzfried J; van der Laan SW; Pasterkamp G; Beaufort N
Journal
Proceedings of the National Academy of Sciences of the United States of America, Vol. 114, No. 14, pp. 3613–3618
Publisher
Proceedings of the National Academy of Sciences
Publication Date
April 4, 2017
DOI
10.1073/pnas.1616301114
ISSN
0027-8424