Article
Common coding variant in SERPINA1 increases the risk for large artery stroke.
Proceedings of the National Academy of Sciences of the United States of America - 4 Apr 2017
Malik Rainer, Dau Therese, Gonik Maria, Sivakumar Anirudh, Deredge Daniel J, Edeleva Evgeniia V, Götzfried Jessica, van der Laan Sander W, Pasterkamp Gerard, Beaufort Nathalie, Seixas Susana, Bevan Steve, Lincz Lisa F, Holliday Elizabeth G, Burgess Annette I, Rannikmäe Kristiina, Minnerup Jens, Kriebel Jennifer, Waldenberger Melanie, Müller-Nurasyid Martina, Lichtner Peter, Saleheen Danish, Rothwell Peter M, Levi Christopher, Attia John, Sudlow Cathie L M, Braun Dieter, Markus Hugh S, Wintrode Patrick L, Berger Klaus, Jenne Dieter E, Dichgans Martin
Abstract excerpt
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)...
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