rs657152

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

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GWAS Catalog Trait Associations (16)

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

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Research that mentions this SNP (1)

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PNPLA3 Variants Specifically Confer Increased Risk for Histologic Nonalcoholic Fatty Liver Disease But Not Metabolic Disease†,‡
AssociationN=2,083Elizabeth K. Speliotes et al.(2010)· Hepatology

A case-control study examining genetic variants associated with liver function tests and steatosis and their relationship to histologically-defined nonalcoholic fatty liver disease (NAFLD). The rs738409 PNPLA3 variant showed the strongest association with NAFLD (OR = 3.26, 95% CI 2.11-7.21, p = 3.60E-43), and displayed significant associations with severe histologic features including fibrosis, ballooning, and inflammation within the NAFLD cohort. Other genetic variants at CPN1, ABO, GPLD1, JMJD1C, GGT1, and HNF1A loci did not show significant associations with NAFLD, suggesting PNPLA3 genetic variation specifically confers increased risk for histologic NAFLD without strong effects on metabolic traits.

Traits studied:Hepatic fibrosisHepatocellular ballooningLiver inflammationLiver steatosisNonalcoholic fatty liver disease (NAFLD)Nonalcoholic steatohepatitis (NASH)
PubMedDOIMetascience Observatory

About ABO

This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Apr 2022]

View all ABO variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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