rs1109158

This variant is located in the SMAD5 gene.

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Research that mentions this SNP (1)

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Genetic Polymorphism of SMAD5 is Associated With Kawasaki Disease
AssociationN=408Ja Hyang Cho et al.(2014)· Pediatric Cardiology

This case-control genetic association study investigated 15 SNPs of the SMAD5 gene in 105 Korean Kawasaki disease patients and 303 healthy controls. SNP rs3206634 was significantly associated with Kawasaki disease susceptibility in a recessive model with odds ratio = 2.31 (95% CI 1.12-4.76, p = 0.019), where the minor C allele increased disease risk. However, none of the 15 SMAD5 SNPs were associated with the development of coronary artery lesions in Kawasaki disease patients.

Traits studied:Coronary artery aneurysmCoronary artery dilatationCoronary artery lesionsKawasaki disease
PubMedDOIMetascience Observatory

About SMAD5

The protein encoded by this gene is involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone morphogenetic proteins type 1 receptor kinase, and may be involved in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

View all SMAD5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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