rs7495132

This is a intron variant variant in the CRTC3 gene.

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GWAS Catalog Trait Associations (2)

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

inflammatory bowel disease

Jostins L et al. “Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.” Nature 491(7422):119-24 (2012)

Allele C

OR 1.13

p 9.0e-11

N 34,366

Large GWAS

European

colorectal cancer

Law PJ et al. “Association analyses identify 31 new risk loci for colorectal cancer susceptibility.” Nature Communications 10(1):2154 (2019)

Allele T

OR 1.11

p 8.0e-10

N 92,967

Large GWAS

European

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Research that mentions this SNP (1)

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The CDH1‐160C>A polymorphism is a risk factor for colorectal cancer

AssociationN=1,926Alan M. Pittman et al.(2009)· International Journal of Cancer

This study examined the relationship between 233 colorectal cancer (CRC) risk loci and overall survival in 1,926 patients with advanced CRC from clinical trials. Two SNPs significantly associated with survival under a recessive model were identified: rs117079142 (HR=2.79, 95% CI=1.70-4.58, P=4.7×10⁻⁵) mapping to UTP23/EIF3H, and rs9924886 (HR=1.24, 95% CI=1.12-1.38, P=5.2×10⁻⁵) mapping to CDH1/CDH3. Low CDH1 gene expression in tumors was associated with worse survival (HR=2.18, P=1.8×10⁻³), supporting a prognostic role for CDH1 variants.

Traits studied:Colorectal cancerColorectal cancer prognosisOverall survival in advanced colorectal cancer

PubMed DOI Metascience Observatory

About CRTC3

This gene is a member of the CREB regulated transcription coactivator gene family. This family regulates CREB-dependent gene transcription in a phosphorylation-independent manner and may be selective for cAMP-responsive genes. The protein encoded by this gene may induce mitochondrial biogenesis and attenuate catecholamine signaling in adipose tissue. A translocation event between this gene and Notch coactivator mastermind-like gene 2, which results in a fusion protein, has been reported in mucoepidermoid carcinomas. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]