rs1019731
This is a intron variant variant in the IGF1 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.
IGF-1 measurement
▶Research that mentions this SNP (2)
▶Genetic association and sequencing of the insulin-like growth factor 1 gene in bipolar affective disorderAssociationN=1,878Ana C. Parente Pereira et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
A genome-wide association study (GWAS) of 506-937 bipolar affective disorder cases and 510-990 controls identified multiple SNPs in the IGF1 gene associated with bipolar disorder, with four SNPs showing p-values of 3.7×10⁻⁵, 8.4×10⁻⁴, 2.6×10⁻⁴, and 2.5×10⁻⁴. Resequencing identified novel variants in IGF1, including rs5742620 (p=0.0454) and rs78352613 (p=0.006) in the promoter region. Gene-wide analysis and haplotypic association confirmed IGF1 as a candidate susceptibility gene for bipolar disorder with dominant inheritance pattern.
▶IGF1, IGFBP1, and IGFBP3 genes and mammographic density: The Multiethnic CohortAssociationN=819Martijn Verheus et al.(2010)· International Journal of Cancer
This study investigated the association between common genetic variation in IGF1, IGFBP1, and IGFBP3 genes and mammographic density in 819 women from the Multiethnic Cohort. Only weak evidence was found for associations: rs35767 (IGF1, p=0.03) was associated with 3.2% lower mammographic density, rs35539615 (IGFBP1, p=0.05) with higher density, and rs2453839 (IGFBP3, p=0.01) with lower density. Ethnicity significantly modified the associations for IGFBP3 variants.
About IGF1
The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]
View all IGF1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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