Results
| PMID | 11675475 |
| Gene Name | NAT2 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | NAT 2 *5, *6 and *7 |
| Sex | Female |
| Associated genes | NAT 2 |
| Other associated phenotypes |
Endometriosis |
|
Mol Hum Reprod. 2001 Nov;7(11):1079-83. Nakago, S| Hadfield, R M| Zondervan, K T| Mardon, H| Manek, S| Weeks, D E| Barlow, D| Kennedy, S Nuffield Department of Obstetrics and Gynaecology, University of Oxford, John Radcliffe Hospital, Oxford, UK. The relationship between endometriosis and polymorphisms in the N-acetyl transferase 2 (NAT 2) gene was investigated in a UK population, as this gene has been previously implicated in the aetiology of the disease. Point mutations in the gene result in the variant alleles NAT 2 *5, *6 and *7 from the wild-type NAT 2 *4 allele. Homozygotes for the NAT 2 *4 wild type allele are fast NAT acetylators, while heterozygotes with one wild-type allele and a variant NAT 2 *5, *6 or *7 allele have reduced enzyme activity, and individuals with two variant alleles are slow acetylators. The NAT 2 *4/*6 genotype was significantly more common among affected women (35.2%) than population controls (8.1%; P = 0.0001) or unaffected women (4.2%; P = 0.02). Significantly more affected women (57.4%) were fast acetylators than were population controls (32.3%; P < 0.01) or unaffected women (33.3%; P < 0.05). These data suggest that altered NAT 2 enzyme activity may be a predisposition factor in endometriosis, or that NAT 2 alleles may be in linkage disequilibrium with a susceptibility allele in the same chromosomal region. Mesh Terms: Adult| Arylamine N-Acetyltransferase/*genetics| Case-Control Studies| Endometriosis/*genetics| Female| Genetic Predisposition to Disease| Genetics, Population| Humans| Male| Middle Aged| *Polymorphism, Genetic| United Kingdom|DA 2002/02/28 10:0 |
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