Variations in ORAI1 Gene Associated with Kawasaki Disease

PloS One
Yoshihiro OnouchiToshihiro Tanaka

Abstract

Kawasaki disease (KD; MIM#61175) is a systemic vasculitis syndrome with unknown etiology which predominantly affects infants and children. Recent findings of susceptibility genes for KD suggest possible involvement of the Ca(2+)/NFAT pathway in the pathogenesis of KD. ORAI1 is a Ca(2+) release activated Ca(2+) (CRAC) channel mediating store-operated Ca(2+) entry (SOCE) on the plasma membrane. The gene for ORAI1 is located in chromosome 12q24 where a positive linkage signal was observed in our previous affected sib-pair study of KD. A common non-synonymous single nucleotide polymorphism located within exon 2 of ORAI1 (rs3741596) was significantly associated with KD (P = 0.028 in the discovery sample set (729 KD cases and 1,315 controls), P = 0.0056 in the replication sample set (1,813 KD cases vs. 1,097 controls) and P = 0.00041 in a meta-analysis by the Mantel-Haenszel method). Interestingly, frequency of the risk allele of rs3741596 is more than 20 times higher in Japanese compared to Europeans. We also found a rare 6 base-pair in-frame insertion variant associated with KD (rs141919534; 2,544 KD cases vs. 2,414 controls, P = 0.012). These data indicate that ORAI1 gene variations are associated with KD and may suggest the poten...Continue Reading

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Jun 29, 2017·Environmental Health Perspectives·Lindsey Konkel
Nov 24, 2016·Circulation. Cardiovascular Genetics·Chisato ShimizuUNKNOWN International Kawasaki Disease Genetics Consortium
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Oct 10, 2021·Pediatric Research·Akihito TakeuchiTakashi Yorifuji
Dec 7, 2021·European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ECP)·Jinxi HeHong Ren

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Methods Mentioned

BETA
PCR
nuclear translocation
genotyping

Software Mentioned

Excel
mrSNP
Variant Effect Predictor
Haploview
R

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