rs55650342
This variant is located in the IGF1 gene.
▶ClinVar annotation
Growth delay due to insulin-like growth factor type 1 deficiency; not provided
View on ClinVar →▶Research that mentions this SNP (1)
▶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.
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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