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Variations in ORAI1 Gene Associated with Kawasaki Disease
Yoshihiro Onouchi1,2, Ryuji Fukazawa3, Kenichiro Yamamura4
1Laboratory for Cardiovascular Diseases, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
Plos One
|January 21, 2016
Summary
Genetic variations in the ORAI1 gene are linked to Kawasaki disease (KD), a childhood vasculitis. This suggests the calcium/NFAT pathway plays a role in KD development.
Area of Science:
- Genetics
- Immunology
- Pediatrics
Background:
- Kawasaki disease (KD) is a systemic vasculitis affecting children with unknown causes.
- Recent research suggests the calcium/NFAT pathway may be involved in KD pathogenesis.
- The ORAI1 gene, encoding a calcium channel, is located on chromosome 12q24, a region previously linked to KD.
Purpose of the Study:
- To investigate the association between ORAI1 gene variations and Kawasaki disease.
- To explore the role of the calcium/NFAT pathway in KD etiology.
Main Methods:
- Case-control study analyzing genetic variations in ORAI1.
- Genotyping of single nucleotide polymorphism rs3741596 and insertion variant rs141919534.
- Meta-analysis of discovery and replication sample sets.
Main Results:
- A common ORAI1 polymorphism (rs3741596) showed significant association with KD in discovery, replication, and meta-analysis.
- The risk allele frequency of rs3741596 is notably higher in Japanese populations.
- A rare ORAI1 insertion variant (rs141919534) was also associated with KD.
Conclusions:
- ORAI1 gene variations are associated with Kawasaki disease.
- These findings highlight the potential importance of the calcium/NFAT pathway in KD pathogenesis.
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