rs13538

This is a protein-altering variant in the NAT8 gene.

▶

GWAS Catalog Trait Associations (23)

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

blood metabolite level

Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele A
OR 94.66
p —
N 30,692
Large GWAS
European

N2-acetyl,N6-methyllysine measurement

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele G
OR 0.87
p —
N 8,069
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 G
OR 1.34
p —
N 4,943
Large GWAS
European

N-acetyl-1-methylhistidine measurement

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele G
OR 0.94
p —
N 7,588
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 G
OR 0.87
p —
N 4,959
Large GWAS
European

N-acetylcitrulline measurement

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele G
OR 1.01
p —
N 7,324
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 G
OR 0.75
p 5.0e-303
N 6,428
Large GWAS
multi-ancestry

N-acetylornithine-to-myo-inositol ratio

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele A
OR 0.22
p —
N 5,385
Large GWAS
European

X-12125 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 G
OR 1.61
p —
N 4,901
Large GWAS
European

blood N-acetylasparagine measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele G
OR 0.95
p 5.0e-303
N 6,183
Large GWAS
multi-ancestry

N-acetyl-2-aminooctanoate 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 G
OR 0.61
p 1.0e-261
N 4,957
Large GWAS
European

N-acetyltyrosine 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 G
OR 0.38
p 9.0e-218
N 4,278
Large GWAS
European
▶

Research that mentions this SNP (1)

▶
Genome‐Wide Association Study of a Heart Failure Related Metabolomic Profile Among African Americans in the Atherosclerosis Risk in Communities (ARIC) Study
AssociationN=1,260Bing Yu et al.(2013)· Genetic Epidemiology

Genome-wide association study (GWAS) of three heart failure-related metabolites in 1,260 African Americans from the ARIC study. Identified a significant association at rs10463316 (p=1.92×10⁻¹⁰) on chromosome 5q33 near SLC36A2 for pyroglutamine, and rs13538 (p=1.71×10⁻²³, F143S missense variant in NAT8) on chromosome 2p13 for X-11787 metabolite. A genetic risk score (GRS) combining the three top SNPs showed significant association with incident heart failure (HR=1.11, 95% CI: 1.02-1.22, p=0.019) over 22 years of follow-up, suggesting these metabolites mediate genetic effects on HF risk.

Traits studied:Dihydroxy docosatrienoic acidHeart failurePyroglutamineX-11787 (hydroxy-leucine/hydroxy-isoleucine)
PubMedDOIMetascience Observatory

About NAT8

This gene, isolated using the differential display method to detect tissue-specific genes, is specifically expressed in kidney and liver. The encoded protein shows amino acid sequence similarity to N-acetyltransferases. A similar protein in Xenopus affects cell adhesion and gastrulation movements, and may be localized in the secretory pathway. A highly similar paralog is found in a cluster with this gene. [provided by RefSeq, Sep 2008]

View all NAT8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…