rs3014866
This is a upstream gene variant variant in the S100A9 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
amount of WAP four-disulfide core domain protein 12 (human) in blood
▶Research that mentions this SNP (1)
▶Targeting the association of calgranulin B (S100A9) with insulin resistance and type 2 diabetesAssociationN=1,450Ortega FJ et al.(2013)· Journal of Molecular Medicine
Study identified the S100A9 gene (calgranulin B) as associated with type 2 diabetes through integration of mouse genomic profiling and human genetic analysis. The rs3014866 SNP in S100A9 showed TT carriers had 28% lower T2D risk (p=0.037, OR=0.72) in 1,450 Spanish subjects. TT carriers exhibited increased circulating and adipose tissue S100A9 expression with decreased fasting glucose and improved insulin sensitivity, suggesting S100A9 may act as a compensatory anti-inflammatory mechanism in obesity and insulin resistance.
About S100A9
The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and altered expression of this protein is associated with the disease cystic fibrosis. This antimicrobial protein exhibits antifungal and antibacterial activity. [provided by RefSeq, Nov 2014]
View all S100A9 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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