rs4271002

This variant is located in the NAT2 gene.

Research that mentions this SNP (1)

An exploratory case‐only analysis of gene‐hazardous air pollutant interactions and the risk of childhood medulloblastoma
AssociationN=98Lupo PJ et al.(2012)· Pediatric Blood & Cancer

A case-only study of 98 children with medulloblastoma/PNET examining gene-environment interactions between chlorinated solvent exposure and detoxification/DNA repair genotypes. Found 11 significant interactions; after multiple comparison correction, only the interaction between high trichloroethylene exposure and OGG1 rs293795 remained significant (OR = 9.24, 95% CI: 2.24-38.24). Two additional borderline significant interactions identified: OGG1 rs159150 with trichloroethylene (OR = 6.50) and NAT1 rs13253389 with vinyl chloride (OR = 0.05, protective).

Traits studied:Childhood CNS tumorsMedulloblastomaPrimitive neuroectodermal tumor (PNET)

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]

View all NAT2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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