rs1049742

This is a protein-altering variant in the AOC1 gene.

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GWAS Catalog Trait Associations (12)

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

level of amiloride-sensitive amine oxidase [copper-containing] in blood serum

Png G et al. “Mapping the serum proteome to neurological diseases using whole genome sequencing.” Nature Communications 12(1):7042 (2021)

Allele T

OR 1.00

p 6.0e-66

N 2,917

Large GWAS

European

acisoga measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)

Allele T

OR 0.29

p 3.0e-45

N 14,296

Large GWAS

European

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)

Allele T

OR 0.26

p 5.0e-18

N 8,850

Large GWAS

multi-ancestry

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)

Allele T

OR 0.27

p 2.0e-19

N 7,489

Large GWAS

European

blood N(8)-acetylspermidine measurement, level of N(1)-acetylspermidine in blood

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)

Allele T

OR 0.36

p 4.0e-40

N 8,219

Large GWAS

European

N-acetylputrescine measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)

Allele T

OR 0.18

p 6.0e-21

N 14,296

Large GWAS

European

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)

Allele T

OR 0.21

p 1.0e-13

N 8,243

Large GWAS

European

serum albumin amount

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

Allele T

OR 0.04

p 4.0e-15

N 325,292

Major Consortium StudyLarge GWAS

multi-ancestry

4-acetamidobutanoate measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)

Allele T

OR 0.14

p 4.0e-14

N 14,296

Large GWAS

European

serum metabolite level

Feofanova EV et al. “A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.” American Journal of Human Genetics 107(5):849-863 (2020)

Allele C

OR 0.41

p 2.0e-13

N 3,926

Large GWAS

Hispanic or Latin American

N1-acetylspermidine measurement

Tahir UA et al. “Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals.” Nature Communications 13(1):4923 (2022)

Allele T

OR 0.35

p 1.0e-12

N 2,466

Large GWAS

multi-ancestry

prostate specific antigen amount

Hoffmann TJ et al. “Genome-wide association study of prostate-specific antigen levels in 392,522 men identifies new loci and improves prediction across ancestry groups.” Nature Genetics 57(2):334-344 (2025)

Allele T

OR 0.02

p 1.0e-11

N 392,522

Large GWAS

multi-ancestry

health trait

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)

Allele C

OR 0.01

p 2.0e-9

N 405,979

Large GWAS

European

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Research that mentions this SNP (1)

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Variability in Ethanol Biodisposition in Whites Is Modulated by Polymorphisms in the Adh1b and Adh1c Genes

ReviewCarmen Martínez et al.(2010)· Hepatology

A comprehensive review of nutrigenetics and nutrigenomics examining how genetic variants influence individual responses to nutrients and dietary interventions. The paper discusses associations between numerous SNPs (rs9939609 in FTO, rs2287019 in GIPR, rs7903146 in TCF7L2, rs5219 in KCNJ11, and many others) and metabolic traits including obesity, type 2 diabetes, and other chronic diseases, along with epigenetic mechanisms by which phytochemicals (curcumin, resveratrol, lycopene) modulate gene expression. The review synthesizes current evidence for precision nutrition approaches tailored to individual genetic profiles.

Traits studied:Bone density/osteoporosisCaffeine sensitivityCardiovascular diseaseCeliac diseaseCerebrovascular diseaseCoronary heart diseaseDetoxification capacityEating behaviorGlucose homeostasisHistamine intoleranceInflammatory diseasesInsulin resistanceLactose intoleranceLeptin resistanceMetabolic syndromeNickel intoleranceObesityOsteoarthritisOverweightType 2 diabetes

PubMed DOI Metascience Observatory

About AOC1

This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]

rs1049742

GWAS Catalog Trait Associations (12)

level of amiloride-sensitive amine oxidase [copper-containing] in blood serum

acisoga measurement

blood N(8)-acetylspermidine measurement, level of N(1)-acetylspermidine in blood

N-acetylputrescine measurement

serum albumin amount

4-acetamidobutanoate measurement

serum metabolite level

N1-acetylspermidine measurement

prostate specific antigen amount

health trait

Research that mentions this SNP (1)

About AOC1

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