rs2267716

This variant is located in the CRHR2 gene.

▶

GWAS Catalog Trait Associations (2)

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

type 2 diabetes mellitus

Huerta-Chagoya A et al. “Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.” Nature Genetics 56(11):2370-2379 (2024)

Allele C

OR 0.07

p 5.0e-15

N 421,743

Large GWAS

multi-ancestry

hemoglobin A1 measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele C

OR 0.01

p 2.0e-9

N 415,403

Large GWAS

multi-ancestry

▶

Research that mentions this SNP (1)

▶

An intronic polymorphism in the corticotropin-releasing hormone receptor 2 gene increases susceptibility to HBV-related hepatocellular carcinoma in Chinese population

AssociationN=964Xing Gu et al.(2010)· Human Genetics

A case-control study in Chinese Han population examining rs2267716 polymorphism in the CRHR2 gene found significant association with HBV-related hepatocellular carcinoma. The C allele was associated with increased HCC susceptibility compared to healthy controls (OR = 1.55, 95% CI 1.13-2.15, P = 0.007) and non-HCC HBV patients (OR = 1.61, 95% CI 1.13-2.31, P = 0.009).

Traits studied:Hepatitis B virus infectionHepatocellular carcinoma (HBV-related)

PubMed DOI Metascience Observatory

About CRHR2

The protein encoded by this gene belongs to the G-protein coupled receptor 2 family, and the subfamily of corticotropin releasing hormone receptor. This receptor shows high affinity for corticotropin releasing hormone (CRH), and also binds CRH-related peptides such as urocortin. CRH is synthesized in the hypothalamus, and plays an important role in coordinating the endocrine, autonomic, and behavioral responses to stress and immune challenge. Studies in mice suggest that this receptor maybe involved in mediating cardiovascular homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jan 2011]