rs37369

This is a variant in the AGXT2 gene that changes a valine to an isoleucine.

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GWAS Catalog Trait Associations (17)

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

X-12117 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 0.72
p 3.0e-286
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 0.58
p 3.0e-92
N 7,379
Large GWAS
European
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele T
OR 0.67
p 4.0e-71
N 6,136
Large GWAS
European
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele T
OR 0.56
p 7.0e-120
N 4,958
Large GWAS
European

metabolite measurement

Suhre K et al. “A genome-wide association study of metabolic traits in human urine.” Nature Genetics 43(6):565-9 (2011)
Allele T
OR —
p 2.0e-182
N 862
Small GWAS
European
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele T
OR 0.27
p 1.0e-22
N 4,886
Large GWAS
European
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 0.28
p 2.0e-21
N 2,466
Large GWAS
multi-ancestry

X-24518 measurement

Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele T
OR 0.59
p 9.0e-84
N 4,355
Large GWAS
European
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele T
OR 0.61
p 5.0e-36
N 6,136
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 0.60
p 5.0e-74
N 6,131
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 8.0e-58
N 3,926
Large GWAS
Hispanic or Latin American

beta-aminoisobutyric acid measurement

Granot-Hershkovitz E et al. “Genetic loci of beta-aminoisobutyric acid are associated with aging-related mild cognitive impairment.” Translational Psychiatry 13(1):140 (2023)
Allele T
OR 0.39
p 2.0e-51
N 3,863
Large GWAS
multi-ancestry

DMGV 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 0.43
p 6.0e-48
N 2,466
Large GWAS
multi-ancestry

dimethylarginine (SDMA + ADMA) measurement

Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele T
OR 0.11
p 8.0e-34
N 4,960
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 0.19
p 7.0e-29
N 11,683
Large GWAS
multi-ancestry
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele T
OR 0.31
p 2.0e-25
N 6,136
Large GWAS
European

5-aminovalerate measurement

Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele T
OR 0.56
p 9.0e-23
N 1,479
Large GWAS
European

carboxylic acid measurement

Rhee EP et al. “Trans-ethnic genome-wide association study of blood metabolites in the Chronic Renal Insufficiency Cohort (CRIC) study.” Kidney International 101(4):814-823 (2022)
Allele T
OR 0.42
p 8.0e-19
N 687
Small GWAS
African American or Afro-Caribbean
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ClinVar annotation

affects
1 submitter1 publication

Beta-aminoisobutyric acid, urinary excretion of

View on ClinVar →

About AGXT2

The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney. Polymorphisms in this gene affect methylarginine and beta-aminoisobutyrate metabolism, and are associated with carotid atherosclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

View all AGXT2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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