rs45618543

This variant is located in the NAT2 gene.

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ClinVar annotation

Benign★☆☆☆
1 submitter1 publication
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Research that mentions this SNP (1)

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Determination of NAT2 acetylation status in the Greenlandic population
AssociationN=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.

Traits studied:Drug metabolism pharmacogenotypeIsoniazid metabolismNAT2 acetylation status
PubMedDOIMetascience Observatory

About NAT2

This gene encodes an enzyme that functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slow acetylator phenotypes. Polymorphisms in this gene are also associated with higher incidences of cancer and drug toxicity. A second polymorphic arylamine N-acetyltransferase gene (NAT1), is located near this gene (NAT2). [provided by RefSeq, Sep 2019]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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