rs2249825

This variant is located in the HMGB1 gene.

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GWAS Catalog Trait Associations (2)

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

serum gamma-glutamyl transferase measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele C

OR 0.02

p 5.0e-11

N 355,690

Major Consortium StudyLarge GWAS

multi-ancestry

urate measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele C

OR 0.02

p 3.0e-10

N 355,426

Major Consortium StudyLarge GWAS

multi-ancestry

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Research that mentions this SNP (1)

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A cis-acting regulatory variation of the estrogen receptor α (ESR1) gene is associated with hepatitis B virus-related liver cirrhosis

AssociationN=1,495Zehui Yan et al.(2011)· Human Mutation

This hospital-based case-control study of 1,495 Han Chinese HBV carriers found that the HMGB1 1176G/C polymorphism is associated with HBV infection outcomes. Subjects with the 1176G/G genotype had significantly increased risk of chronic hepatitis B, liver cirrhosis, and severe hepatitis B compared to those carrying at least one 1176C allele (OR=1.354-1.571 depending on comparison group).

Traits studied:Acute hepatitis BAsymptomatic carrier statusChronic hepatitis BHepatitis B virus infectionHepatocellular carcinomaLiver cirrhosisSevere hepatitis B

PubMed DOI Metascience Observatory

About HMGB1

This gene encodes a protein that belongs to the High Mobility Group-box superfamily. The encoded non-histone, nuclear DNA-binding protein regulates transcription, and is involved in organization of DNA. This protein plays a role in several cellular processes, including inflammation, cell differentiation and tumor cell migration. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2015]