rs2854747

This is a intron variant variant in the IGFBP3 gene.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

appendicular lean mass

Hernandez Cordero AI et al. “Genome-wide Associations Reveal Human-Mouse Genetic Convergence and Modifiers of Myogenesis, CPNE1 and STC2.” American Journal of Human Genetics 105(6):1222-1236 (2019)
Allele A
OR 0.06
p 2.0e-9
N 85,750
Large GWAS
European

BMI-adjusted waist circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele G
OR 0.02
p 2.0e-9
N 219,872
Major Consortium StudyLarge GWAS
European

systolic blood pressure

Schoeler T et al. “Participation bias in the UK Biobank distorts genetic associations and downstream analyses.” Nature Human Behaviour 7(7):1216-1227 (2023)
Allele G
OR 0.30
p 2.0e-8
N 275,793
Major Consortium StudyLarge GWAS
European
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Research that mentions this SNP (2)

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IGF1, IGFBP1, and IGFBP3 genes and mammographic density: The Multiethnic Cohort
AssociationN=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.

Traits studied:Mammographic density
PubMedDOIMetascience Observatory
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Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot
AssociationN=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.

Traits studied:Clubfoot (talipes equinovarus)Congenital vertical talusIdiopathic clubfoot
PubMedDOIMetascience Observatory

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.

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