Genetic Variation in the SLC8A1 Calcium Signaling Pathway Is Associated With Susceptibility to Kawasaki Disease and Coronary Artery Abnormalities
- Shimizu, Chisato
- Eleftherohorinou, Hariklia
- Wright, Victoria J.
- Kim, Jihoon
- Alphonse, Martin P.
- Perry, James C.
- Cimaz, Rolando
- Burgner, David
- Dahdah, Nagib
- Hoang, Long T.
- Khor, Chiea Chuen
- Salgado, Andrea
- Tremoulet, Adriana H.
- Davila, Sonia
- Kuijpers, Taco W.
- Hibberd, Martin L.
- Johnson, Todd A.
- Takahashi, Atsushi
- Tsunoda, Tatsuhiko
- Kubo, Michiaki
- Tanaka, Toshihiro
- Onouchi, Yoshihiro
- Yeung, Rae S. M.
- Coin, Lachlan J. M.
- Levin, Michael
- Burns, Jane C.
DOIAbstract
Kawasaki disease (KD) is an acute pediatric vasculitis in which host genetics influence both susceptibility to KD and the formation of coronary artery aneurysms. Variants discovered by genome-wide association studies and linkage studies only partially explain the influence of genetics on KD susceptibility. To search for additional functional genetic variation, we performed pathway and gene stability analysis on a genome-wide association study data set. Pathway analysis using European genome-wide association study data identified 100 significantly associated pathways (P <5×10(-)(4)). Gene stability selection identified 116 single nucleotide polymorphisms in 26 genes that were responsible for driving the pathway associations, and gene ontolog...
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