rs4820599

This is a regulatory region variant variant in the GGT1 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 G
OR 0.15
p —
N 355,690
Major Consortium StudyLarge GWAS
multi-ancestry
Pazoki R et al. “Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes.” Nature Communications 12(1):2579 (2021)
Allele G
OR 0.04
p 1.0e-300
N 437,194
Large GWAS
European
Kim YJ et al. “Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.” Nature Genetics 43(10):990-5 (2011)
Allele G
OR 0.01
p 7.0e-53
N 12,545
Large GWAS
East Asian
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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 GGT1

The enzyme encoded by this gene is a type I gamma-glutamyltransferase that catalyzes the transfer of the glutamyl moiety of glutathione to a variety of amino acids and dipeptide acceptors. The enzyme is composed of a heavy chain and a light chain, which are derived from a single precursor protein. It is expressed in tissues involved in absorption and secretion and may contribute to the etiology of diabetes and other metabolic disorders. Multiple alternatively spliced variants have been identified. There are a number of related genes present on chromosomes 20 and 22, and putative pseudogenes for this gene on chromosomes 2, 13, and 22. [provided by RefSeq, Jan 2014]

View all GGT1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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