rs3730204
This variant is located in the IGF1 gene.
▶ClinVar annotation
Growth delay due to insulin-like growth factor type 1 deficiency
View on ClinVar →▶Research that mentions this SNP (1)
▶Association analysis of the IGF1 gene with childhood growth, IGF-1 concentrations and type 1 diabetesAssociationN=3,121Vella A. et al.(2008)· Diabetologia
This study examined associations between common genetic variants in the IGF1 gene and type 1 diabetes, childhood growth, and metabolism. Using resequencing and tag SNPs in 3,121 type 1 diabetes family trios and 902 children from the ALSPAC birth cohort, the authors found that IGF1 variants showed no association with type 1 diabetes (χ² p=0.356) and were not significantly associated with birthweight, childhood growth, or insulin secretion. However, IGF1 genetic variation was weakly associated with circulating IGF-1 concentrations at birth (R²=0.063, p=0.029) and marginally at age 7-8 years (R²=0.030, p=0.055).
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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