rs10426094
This is a intron variant variant in the INSR gene.
▶Research that mentions this SNP (1)
▶Genes in the insulin and insulin-like growth factor pathway and odds of metachronous colorectal neoplasiaAssociationN=1,439Elizabeth C. LeRoy et al.(2011)· Human Genetics
This study analyzed 521 SNPs in 18 insulin and IGF pathway genes among 1,439 subjects from two chemoprevention trials to identify genetic interactions associated with metachronous colorectal neoplasia. Classification and regression tree (CART) analysis identified gene-by-gene interactions: carriers of the A allele at rs7166348 (IGF1R) with AA genotype at rs1823023 (PIK3R1) had the highest probability of adenoma (71.8%, OR 3.7; 95%CI 2.2-6.5), while those with A at rs7166348, G at rs1823023, and AA at rs10426094 (INSR) had the lowest risk (14.3%, OR 0.22; 95%CI 0.07-0.66). Multifactor dimensionality reduction identified a three-way interaction (rs7166348, rs12609995, rs2715425) with OR 2.12 (95%CI 1.70-2.65) for metachronous neoplasia.
About INSR
This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
View all INSR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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