Gene "IGF1"
Found 3 records
Gene information
Gene symbol:
IGF1
See related:
Ensembl: ENSG00000017427, Gene ID: 3479
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
3 
Disorder:
3 
Vriant:
2 
Reference:
2 
Effect type:
Expressivity(3)  
Modifier effect:
Altered life span(3)  
Details：
  • Variant 1:
    IGF1:c.355-178C>G
    Gene:
    IGF1
    Genomic location:
    chr12:102796522
    dbSNP ID:
    rs1520220
    Target disease:
    Breast Cancer(DOID_1612)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered life span 
    Evidence:
    HR=1.61, 95% CI: 1.15-2.25, P=0.01 
    Effect:
    rs1520220 in IGF1 and rs2677760 in PIK3CA were associated with worse obesity, and breast cancer disease-free survival(DFS).
    Reference:
    PMID25108739
    Title:
    Association between germline single nucleotide polymorphisms in the PI3K-AKT-mTOR pathway, obesity, and breast cancer disease-free survival.
    Species studied:
    Human
    Abstract:
    Obesity-related hormones and cytokines alter PI3K-AKT-mTOR pathway activation in breast tumors contributing to poorer disease-free survival (DFS) and decreased responsiveness to tamoxifen and trastuzumab. We hypothesized that single nucleotide polymorphisms (SNPs) in candidate genes in the PI3K-AKT-mTOR signaling pathway may act as genetic modifiers of breast cancer DFS. We analyzed the association of 106 tagging SNPs in 13 genes (ADIPOQ, IGF1, INS, IRS1, LEP, LEPR, LEPROT, PIK3CA, PIK3R5, PTEN, TSC1, TSC2, and AKT1) in the P13K-AKT-mTOR pathway with DFS in a sample of 1,019 women with stage I-II breast cancer. SNPs significantly associated with DFS in any genetic model (additive, dominant, or recessive) after correcting for false discovery rate (FDR=0.10) were included in Cox proportional hazards multivariable analyses. After adjusting for race/ethnicity, age at diagnosis, tumor stage, and treatment, rs1063539 in ADIPOQ, rs11585329 in LEPR, and rs2519757 in TSC1 were associated with improved DFS, and rs1520220 in IGF1 and rs2677760 in PIK3CA were associated with worse DFS. The associations were not significantly modified by the type of systemic treatment received or body mass index. The SNPs were not associated with tumor characteristics such as tumor size, lymph node status, nuclear grade, or hormone receptor status. In this study, germline SNPs in the PI3K-AKT-mTOR pathway were associated with breast cancer DFS and may be potential prognostic markers. Future studies are needed to replicate our results and to evaluate the relationship between these polymorphisms and activation of the PI3K-AKT-mTOR pathway in breast tumors.
  • Variant 2:
    IGF1:c.355-178C>G
    Gene:
    IGF1
    Genomic location:
    chr12:102796522
    dbSNP ID:
    rs1520220
    Target disease:
    Obesity(DOID_9970)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered life span 
    Evidence:
    HR=1.61, 95% CI: 1.15-2.25, P=0.01 
    Effect:
    rs1520220 in IGF1 and rs2677760 in PIK3CA were associated with worse obesity, and breast cancer disease-free survival(DFS).
    Reference:
    PMID25108739
    Title:
    Association between germline single nucleotide polymorphisms in the PI3K-AKT-mTOR pathway, obesity, and breast cancer disease-free survival.
    Species studied:
    Human
    Abstract:
    Obesity-related hormones and cytokines alter PI3K-AKT-mTOR pathway activation in breast tumors contributing to poorer disease-free survival (DFS) and decreased responsiveness to tamoxifen and trastuzumab. We hypothesized that single nucleotide polymorphisms (SNPs) in candidate genes in the PI3K-AKT-mTOR signaling pathway may act as genetic modifiers of breast cancer DFS. We analyzed the association of 106 tagging SNPs in 13 genes (ADIPOQ, IGF1, INS, IRS1, LEP, LEPR, LEPROT, PIK3CA, PIK3R5, PTEN, TSC1, TSC2, and AKT1) in the P13K-AKT-mTOR pathway with DFS in a sample of 1,019 women with stage I-II breast cancer. SNPs significantly associated with DFS in any genetic model (additive, dominant, or recessive) after correcting for false discovery rate (FDR=0.10) were included in Cox proportional hazards multivariable analyses. After adjusting for race/ethnicity, age at diagnosis, tumor stage, and treatment, rs1063539 in ADIPOQ, rs11585329 in LEPR, and rs2519757 in TSC1 were associated with improved DFS, and rs1520220 in IGF1 and rs2677760 in PIK3CA were associated with worse DFS. The associations were not significantly modified by the type of systemic treatment received or body mass index. The SNPs were not associated with tumor characteristics such as tumor size, lymph node status, nuclear grade, or hormone receptor status. In this study, germline SNPs in the PI3K-AKT-mTOR pathway were associated with breast cancer DFS and may be potential prognostic markers. Future studies are needed to replicate our results and to evaluate the relationship between these polymorphisms and activation of the PI3K-AKT-mTOR pathway in breast tumors.
  • Variant 3:
    IGF1:c.*6433G>C
    Gene:
    IGF1
    Genomic location:
    chr12:102789852
    dbSNP ID:
    rs5742714
    Target disease:
    Lung Carcinoma(DOID_3905)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered life span 
    Evidence:
    HR=0.58; 95% CI: 0.40-0.85; p for heterogeneity test = 0.045 
    Effect:
    rs5742714 in IGF1 may be a genetic modifier for NSCLC prognosis in this Chinese population
    Reference:
    PMID20145156
    Title:
    A 3'-untranslated region polymorphism in IGF1 predicts survival of non-small cell lung cancer in a Chinese population.
    Species studied:
    Human
    Abstract:
    Disruption of the balance of insulin-like growth factor I (IGF-I) and IGF-binding protein 3 (IGFBP3) has been implicated in the etiology and progression of lung and other cancers. Single nucleotide polymorphisms (SNP) in IGF1 and IGFBP3 have been reported to be associated with the expression of the IGF-I/IGFBP3 axis. Therefore, we hypothesized that SNPs in these two genes were associated with lung cancer survival.