|(A;A)||2.8||Increased risk of hearing loss|
|(A;G)||1.7||Increased risk of hearing loss|
rs1799930 is a SNP in the NAT2 gene, potentially encoding a variant detoxifying protein known as an N-acetyltransferase, but which NAT2 variant depends on which other NAT2 SNPs were also inherited. See the discussion of the NAT2 gene for a more complete explanation. Also known as G590A.
The risk allele for this SNP is rs1799930(A).
[PMID 20180013] Genetic polymorphisms in folate and alcohol metabolism and breast cancer risk: a case-control study in Thai women
[PMID 16369173] N-acetyltransferase 2 gene polymorphism and presbycusis.
[PMID 17513527] Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment.
[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 ethambutol|
|CLNDBN||Slow acetylator due to N-acetyltransferase enzyme variant ethambutol, isoniazid, pyrazinamide, and rifampin response - Toxicity/ADR, Metabolism/PK|
|CLNSRC||OMIM Allelic Variant|
[PMID 14724163] Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases.
[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 17160896] Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants.
[PMID 17335581] Association of the diplotype configuration at the N-acetyltransferase 2 gene with adverse events with co-trimoxazole in Japanese patients with systemic lupus erythematosus.
[PMID 18252219] A powerful and flexible multilocus association test for quantitative traits.
[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 19390575] Lung cancer susceptibility model based on age, family history and genetic variants.
[PMID 19766908] Association of NAT2 gene polymorphisms with susceptibility to esophageal and gastric cancers in the Kashmir Valley.
[PMID 20043821] Evaluating NAT2PRED for inferring the individual acetylation status from unphased genotype data.
[PMID 21324488] Single nucleotide polymorphisms in tobacco metabolism and DNA repair genes and prognosis in resected non-small-cell lung cancer.
[PMID 22137356] An unlikely role for the NAT2 genotypes and haplotypes in the oral cancer of south Indians.
[PMID 22336957] Impact of population diversity on the prediction of 7-SNP NAT2 phenotypes using the tagSNP rs1495741 or paired SNPs.
[PMID 22970273] The Differential Effect of NAT2 Variant Alleles Permits Refinement in Phenotype Inference and Identifies a Very Slow Acetylation Genotype
[PMID 23175176] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
[PMID 24928356] Synergism between the N-acetyltransferase 2 gene and oxidant exposure increases the risk of idiopathic male infertility
[PMID 25005845] N-Acetyltransferase 2 (NAT2) gene polymorphism and exposure to smoking in lung cancer of Chinese males
[PMID 25017831] N-acetyltransferase and cytochrome P450 2E1 gene polymorphisms and susceptibility to antituberculosis drug hepatotoxicity in an Indian population
[PMID 25081676] N-Acetyltransferase 2 Gene Polymorphisms are Associated with Susceptibility to Cancer: a Meta-analysis
[PMID 26409796] N-acetyltransferase 1 and 2 polymorphisms and risk of diabetes mellitus type 2 in a Saudi population
[PMID 26445549] Associations of polymorphisms in NAT2 gene with risk and metastasis of osteosarcoma in young Chinese population
[PMID 29505746] Association of N-acetyltransferase-2 and glutathione S-transferase polymorphisms with idiopathic male infertility in Vietnam male subjects.