rs1801279
This is a missense variant in the NAT2 gene.
Key Literature Trait Associations
Isoniazid Acetylation Rate
NAT2*14 carries an R64Q substitution defining the *14 slow acetylator haplotype. It is found primarily in African populations at 5-8% allele frequency and is important for accurate NAT2 phenotype prediction in diverse populations. Omitting *14 from NAT2 genotyping panels leads to misclassification of slow acetylators as rapid in populations of African descent.
▶ClinVar annotation
Slow acetylator due to N-acetyltransferase enzyme variant; NAT2-related disorder
View on ClinVar →▶Research that mentions this SNP (4)
▶Relevance of NAT2 genotype to anti‐tuberculosis drug‐induced hepatotoxicity in a Chinese Han populationReviewN=60,888Lihuan Lu et al.(2019)· The Journal of Gene Medicine
Systematic review of worldwide genetic diversity of the NAT2 gene across 60,888 individuals from 122 populations in 51 countries. Analyzed eight NAT2 polymorphisms (rs1801279, rs1041983, rs1801280, rs1799929, rs1799930, rs1208, rs1799931, rs1495741) to characterize acetylation phenotypes globally. Slow phenotype most common worldwide (frequency 0.44), especially in African, European, and Middle Eastern populations (0.48-0.79), while rapid phenotype predominates in East Asians and Native Americans (0.25-0.53). Compiled data from 160 publications including 115 case-control studies to map NAT2 diversity patterns associated with metabolism of drugs and heterocyclic aromatic amines.
▶Determination of NAT2 acetylation status in the Greenlandic populationAssociationN=1,556Frank Geller et al.(2016)· Archives of Toxicology
This study determined NAT2 (N-acetyltransferase 2) acetylation status in 1,556 Greenlandic individuals using SNP panels and genotype imputation. The fraction of slow acetylators was 17.5% overall but varied significantly by Inuit ancestry (12.2% with >70% Inuit ancestry vs 25.6% with <50% Inuit ancestry). Different SNP panels showed high concordance (2-SNP and 4-SNP panels achieved 100% agreement with the 7-SNP reference panel), demonstrating reliable NAT2 status assessment. These findings support pharmacogenetics-based isoniazid dosing for tuberculosis treatment in Greenland.
▶Modulation of urinary polycyclic aromatic hydrocarbon metabolites by enzyme polymorphisms in workers of the German Human Bitumen StudyAssociationN=314Hans-Peter Rihs et al.(2011)· Archives of Toxicology
Study of 314 German workers (218 bitumen-exposed, 96 non-exposed controls) examining how 18 SNPs in metabolizing enzyme genes modulate urinary PAH metabolites (1-OHP and OHPHE). The CYP1A1 3801T>C CC variant showed 58% higher OHPHE (P=0.051), GSTM1*1 carriers had 11% lower OHPHE (P=0.046), and NAT2*803GG showed 15-16% decrease in OHPHE (P=0.042). No SNPs reached significance for 1-OHP.
▶Genetic Susceptibility to CancerMeta-analysisN=3,551Linda M. Dong et al.(2008)· JAMA
A systematic review and meta-analysis of 161 published meta-analyses evaluating 344 gene-variant/cancer associations across 99 genes and 18 cancer sites. The authors calculated false-positive report probability (FPRP) values to evaluate the robustness of statistically significant findings (p<0.05). The most noteworthy associations at very low prior probability were GSTM1 null with bladder cancer (OR: 1.5, p=1.9×10-14), NAT2 slow acetylator with bladder cancer (OR: 1.46, p=2.5×10-7), MTHFR C677T with gastric cancer (OR: 1.52, p=4.9×10-8), and GSTM1 null with acute leukemia (OR: 1.20, p=8.6×10-15). Phase II metabolizing enzymes, particularly GSTM1 deletion, showed the most consistent and highly significant associations with cancer risk.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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