rs114895119 - CARD9

Magnitude 4.5 · 1 study on file

Reported associations

• Common coding variant in increases the risk for large artery stroke. - Proceedings of the National Academy of Sciences of the United States of America (2018) · Malik R, Dau T, Gonik M, Sivakumar A, Deredge DJ, Edeleva EV, Götzfried J, van der Laan SW, Pasterkamp G, Beaufort N, Seixas S, Bevan S, Lincz LF, Holliday EG, Burgess AI, Rannikmäe K, Minnerup J, Kriebel J, Waldenberger M, Müller-Nurasyid M, Lichtner P, Saleheen D, Rothwell PM, Levi C, Attia J, Sudlow CL, Braun D, Markus HS, Wintrode PL, Berger K, Jenne DE, Dichgans M · PubMed 28265093

  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 ( ) encoding alpha-1 antitrypsin [AAT; p.V213A; = 5.99E-9, odds ratio (OR) = 1.22] and confirm histone deacetylase 9 ( ) as a major risk gene for LAS with an association in the 3'-UTR (rs2023938; = 7.76E-7, OR = 1.28). Using quantitative microscale thermophoresis, we show that M1 (A213) exhibits an almost twofold lower dissociation constant with its primary target human neutrophil elastase (NE)

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