rs1799929
This is a synonymous variant in the NAT2 gene.
Key Literature Trait Associations
Isoniazid Acetylation Rate
NAT2 rs1799929 (481C>T, L161L) is a synonymous variant that tags the *11 rapid acetylator and *5B slow acetylator haplotypes. On its own it defines NAT2*11 (rapid acetylator) and does not reduce enzyme activity. When co-inherited with rs1801280 (I114T), it indicates the *5B slow haplotype. Acetylator status is determined by the functional variants (rs1801280, rs1799930, rs1801279), not by this synonymous change.
▶ClinVar annotation
▶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.
▶Smoking, the xenobiotic pathway, and clubfootAssociationN=1,776Sommer A. et al.(2011)· Birth Defects Research Part A: Clinical and Molecular Teratology
This family-based association study examined genetic variation in xenobiotic metabolism genes and clubfoot risk. In 1,776 individuals from 619 families, rs1048943/CYP1A1 showed significant altered transmission (p=0.003), and CYP1A2 variants demonstrated both maternal (rs11854147, p=0.03, RR=1.24) and fetal (rs2470890, p=0.01, RR=1.33) genotypic effects. A significant gene interaction was detected between rs105740/EPHX1 and rs1799929/NAT2 (p=0.007). The authors conclude that xenobiotic metabolism genes may contribute to clubfoot susceptibility, particularly in the context of maternal smoking exposure.
▶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.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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