rs2453839
This variant is located in the IGFBP3 gene.
▶Research that mentions this SNP (4)
▶Genetic variation and circulating levels of IGF‐I and IGFBP‐3 in relation to risk of proliferative benign breast diseaseAssociationN=718Xuefen Su et al.(2010)· International Journal of Cancer
This case-control study examined genetic variants in IGF-I, IGFBP-1, and IGFBP-3 genes in relation to proliferative benign breast disease (BBD) in 359 cases and 359 controls from the Nurses' Health Study II. Higher circulating IGFBP-3 levels were significantly associated with increased BBD risk (OR 1.70, p-trend = 0.03), while minor alleles of IGFBP-3 SNPs rs3110697 and rs2132570 were associated with significantly lower BBD risk (OR 0.6 and 0.2, p-trend = 0.02). Three other IGFBP-3 SNPs (rs2854744, rs2960436, rs2854746) were strongly associated with circulating IGFBP-3 levels.
▶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.
▶Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfootAssociationN=1,927Audrey R. Ester et al.(2009)· American Journal of Medical Genetics Part A
Family-based association study identifying altered transmission of SNPs in HOX gene clusters (HOXA, HOXD) and IGFBP3 as potential risk factors for clubfoot (talipes equinovarus), a common congenital limb defect. Key findings include significant associations with rs3801776 in HOXA (p=0.004 discovery, p=0.028 validation), rs13223993 in IGFBP3 (p=0.003), and strong gene-gene interactions between HOX and apoptotic pathway genes (CASP3, CASP10, Bid, Apaf1), suggesting HOX and apoptotic perturbations affect limb and muscle development.
▶Genetic and plasma variation of insulin‐like growth factor binding proteins in relation to prostate cancer incidence and survivalAssociationN=4,510Mattias Johansson et al.(2009)· The Prostate
Case-control study of 2,774 prostate cancer cases and 1,736 controls examining genetic variation in IGFBP1, IGFBP3, and IGFALS genes in relation to prostate cancer incidence and survival. The rs2854744 variant in IGFBP3 was associated with elevated total IGFBP3 plasma levels (P=9×10⁻⁸), and elevated intact IGFBP3 was associated with increased risk of prostate cancer-specific death (P=6×10⁻¹⁴ unadjusted, P=0.0004 adjusted). No clear associations were found between genetic variants and prostate cancer incidence or overall survival.
About IGFBP3
This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
View all IGFBP3 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…