rs8192575

This variant is located in the NOTCH4 gene.

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GWAS Catalog Trait Associations (1)

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

BMI-adjusted waist-hip ratio

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 0.04

p 3.0e-14

N 219,872

Major Consortium StudyLarge GWAS

European

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ClinVar annotation

Benign★☆☆☆

1 submitter

View on ClinVar →

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Research that mentions this SNP (1)

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Prognostic value of Notch receptors in postsurgical patients with hepatitis B virus‐related hepatocellular carcinoma

AssociationN=465Tingdong Yu et al.(2017)· Cancer Medicine

Candidate gene study of 465 HBV-related hepatocellular carcinoma (HCC) patients examined 19 SNPs in Notch pathway receptors (NOTCH1-4) using Sanger sequencing. Four SNPs significantly associated with overall survival: rs1043996 (NOTCH3), rs422951 (NOTCH4), rs520692 (NOTCH4), and rs3830041 (NOTCH4). Notch3 mRNA was significantly elevated in tumors (P<0.0001) and higher expression predicted poorer overall and recurrence-free survival.

Traits studied:Hepatocellular carcinoma (HBV-related)Overall survivalRecurrence-free survival

PubMed DOI Metascience Observatory

About NOTCH4

This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor may play a role in vascular, renal and hepatic development. Mutations in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]