|(T;T)||0||common in clinvar|
The allele associated with slow NAT2 metabolization for this SNP is rs1801280(C). Genosets gs154 and gs156 evaluate predicated NAT2 metabolizer phenotype based on rs1041983 and rs1801280.[PMID 21750470]
|Disease Association||N-acetylation polymorphism is determined by a low or high NAT activity in liver, it has been implicated in the action and toxicity of amine-containing drugs, and in the susceptibility to bladder cancer and systemic lupus erythematosus. This isozyme is responsible for this polymorphism.|
[PMID 22092036] Accuracy of various human NAT2 SNP genotyping panels to infer rapid, intermediate and slow acetylator phenotypes
|Disease||Slow acetylator due to N-acetyltransferase enzyme variant|
|CLNDBN||Slow acetylator due to N-acetyltransferase enzyme variant|
|CLNSRC||OMIM Allelic Variant|
[PMID 16112301] NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses.
[PMID 16416399] Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes.
[PMID 16847422] Genetic variation in N-acetyltransferase 1 (NAT1) and 2 (NAT2) and risk of non-Hodgkin lymphoma.
[PMID 18268115] Meat intake, heterocyclic amine exposure, and metabolizing enzyme polymorphisms in relation to colorectal polyp risk.
[PMID 18298806] Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years.
[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 18680467] Structure/function evaluations of single nucleotide polymorphisms in human N-acetyltransferase 2.
[PMID 18768514] Talc use, variants of the GSTM1, GSTT1, and NAT2 genes, and risk of epithelial ovarian cancer.
[PMID 18773084] Multiple advantageous amino acid variants in the NAT2 gene in human populations.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 18990750] Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.
[PMID 20043821] Evaluating NAT2PRED for inferring the individual acetylation status from unphased genotype data.
[PMID 21750470] Genotyping NAT2 with only two SNPs (rs1041983 and rs1801280) outperforms the tagging SNP rs1495741 and is equivalent to the conventional 7-SNP NAT2 genotype.
[PMID 22200898] Maternal smoking during pregnancy, genetic polymorphisms of metabolic enzymes, and childhood acute leukemia: the ESCALE study (SFCE).
[PMID 22336957] Impact of population diversity on the prediction of 7-SNP NAT2 phenotypes using the tagSNP rs1495741 or paired SNPs.
[PMID 22414877] Novel tagging SNP rs1495741 and 2-SNPs (rs1041983 and rs1801280) yield a high prediction of the NAT2 genotype in HapMap samples.
|qualified_impact||Insufficiently evaluated pharmacogenetic|
[PMID 23175176] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
[PMID 23404349] Childhood acute leukemia, maternal beverage intake during pregnancy, and metabolic polymorphisms.
[PMID 26445549] Associations of polymorphisms in NAT2 gene with risk and metastasis of osteosarcoma in young Chinese population