rs2290692
This variant is located in the ITPKC gene.
▶Research that mentions this SNP (1)
▶Single-nucleotide Polymorphism rs2290692 in the 3′UTR of ITPKC Associated With Susceptibility to Kawasaki Disease in a Han Chinese PopulationAssociationN=541Qian Peng et al.(2012)· Pediatric Cardiology
Case-control study of 223 Kawasaki disease (KD) patients and 318 controls in a Han Chinese population investigating ITPKC polymorphisms. While rs28493229 showed no significant association with KD (p=0.395), rs2290692 C allele showed significantly higher frequency in KD patients (p<0.001, OR=1.649 for allele; OR=2.059 for GG vs CC genotype comparison). The C allele of rs2290692 was also associated with increased risk of coronary artery lesions (CALs) complications (p=0.007, OR=2.223). These findings suggest an unknown ITPKC polymorphism in linkage disequilibrium with rs2290692 may influence KD susceptibility in Han populations.
About ITPKC
This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009]
View all ITPKC variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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