rs6214
This is a 3 prime utr variant variant in the IGF1 gene.
▶ClinVar annotation
Growth delay due to insulin-like growth factor type 1 deficiency (IGF1D)
View on ClinVar →▶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.
▶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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…