rs9263739

This is a regulatory region variant variant in the CCHCR1 gene.

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GWAS Catalog Trait Associations (1)

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

ulcerative colitis

Asano K et al. “A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.” Nature Genetics 41(12):1325-9 (2009)
Allele T
OR 2.73
p 4.0e-67
N 1,310
Large GWAS
East Asian
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Research that mentions this SNP (1)

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Investigation of genetic risk factors for chronic adult diseases for association with preterm birth
AssociationN=1,792Nadia Falah et al.(2013)· Human Genetics

Case-control study of 673 preterm birth (PTB) cases vs 1,119 controls across four maternal cohorts testing 35 SNPs in cardiovascular, inflammatory, and metabolic disease genes. Found 13 statistically significant associations with PTB (P<0.05), more than expected by chance (binomial P=0.02). Most significant was HLA-DQA1 rs9272346 G allele protective effect in US White mothers (P=0.02, OR=0.65, 95% CI 0.46-0.94), which nominally replicated in Danish cohort (P=0.02, OR=0.85, 95% CI 0.75-0.97) but lost significance after correction for multiple testing.

Traits studied:Cardiovascular diseaseHeight and weightHemostasis and thrombosisHypertensionInflammatory and immunological diseaseLipids and glucose metabolismMyocardial infarctionObesityPreterm birth
PubMedDOIMetascience Observatory

About CCHCR1

This gene encodes a protein with five coiled-coil alpha-helical rod domains that is thought to act as a regulator of mRNA metabolism through its interaction with mRNA-decapping protein 4. It localizes to P-bodies, the site of mRNA metabolism, with an N-terminus that is required for this subcellular localization, suggesting it is a P-body component. Naturally occurring mutations in this gene are associated with psoriasis. [provided by RefSeq, May 2017]

View all CCHCR1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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