rs1800759

This is a regulatory region variant variant in the ADH4 gene.

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GWAS Catalog Trait Associations (18)

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

tyrosine measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.04
p 7.0e-75
N 450,015
Large GWAS
multi-ancestry

alkaline phosphatase measurement

Chen VL et al. “Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.” Nature Communications 12(1):816 (2021)
Allele T
OR 13.20
p 5.0e-40
N 390,964
Large GWAS
multi-ancestry

protein measurement

He B et al. “Genome-wide pQTL analysis of protein expression regulatory networks in the human liver.” Bmc Biology 18(1):97 (2020)
Allele T
OR 0.26
p 2.0e-28
N 287
Small GWAS
multi-ancestry

citrate measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.02
p 2.0e-27
N 450,015
Large GWAS
multi-ancestry

aspartate aminotransferase measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.02
p 7.0e-24
N 394,642
Large GWAS
European
Chen VL et al. “Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.” Nature Communications 12(1):816 (2021)
Allele G
OR 7.60
p 3.0e-14
N 389,565
Large GWAS
multi-ancestry

bilirubin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.01
p 2.0e-20
N 394,642
Large GWAS
European

platelet volume

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.02
p 4.0e-19
N 394,642
Large GWAS
European
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Research that mentions this SNP (1)

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Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication
AssociationN=1,371Byung Lae Park et al.(2013)· Human Genetics

This GWAS and replication study in a Korean cohort identified genetic associations with alcohol dependence (AD), with the ADH gene cluster on chromosome 4q22-q23 and ALDH2 on 12q24 showing the strongest signals. The most significant finding was ADH1B rs1229984 (H47R) with p=2.63×10⁻²¹ and OR=2.35 in the replication cohort of 975 subjects. Conditional analyses revealed that ADH1B rs1229984 is likely the sole functional marker driving effects across the ADH cluster.

Traits studied:Alcohol dependence
PubMedDOIMetascience Observatory

About ADH4

This gene encodes class II alcohol dehydrogenase 4 pi subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class II alcohol dehydrogenase is a homodimer composed of 2 pi subunits. It exhibits a high activity for oxidation of long-chain aliphatic alcohols and aromatic alcohols and is less sensitive to pyrazole. This gene is localized to chromosome 4 in the cluster of alcohol dehydrogenase genes. [provided by RefSeq, Jul 2008]

View all ADH4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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