The risk allele for this SNP is rs1799929(T).
When this SNP is indicative of carrying a NAT2*5A allele, the following may be relevant:
A study (based on only 42 patients) found that women with the NAT2*5A slow genotype (which presumably means rs1799929(T;T)) had a significantly higher risk of cervical cancer compared with individuals with the NAT2*5A fast genotype (i.e. carriers of only one rs1799929(T) allele), with a reported odds ratio of 7.469 (CI: 1.6-33.3, p=0.008).[PMID 19823052][PMID 22092036] Accuracy of various human NAT2 SNP genotyping panels to infer rapid, intermediate and slow acetylator phenotypes
[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 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 18664443] Unraveling ambiguous NAT2 genotyping data.
[PMID 18680467] Structure/function evaluations of single nucleotide polymorphisms in human N-acetyltransferase 2.
[PMID 18773084] Multiple advantageous amino acid variants in the NAT2 gene in human populations.
[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 22137356] An unlikely role for the NAT2 genotypes and haplotypes in the oral cancer of south Indians.
|qualified_impact||Insufficiently evaluated pharmacogenetic|
[PMID 24928356] Synergism between the N-acetyltransferase 2 gene and oxidant exposure increases the risk of idiopathic male infertility
[PMID 25017831] N-acetyltransferase and cytochrome P450 2E1 gene polymorphisms and susceptibility to antituberculosis drug hepatotoxicity in an Indian population
[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