title: Association between endometriosis and N-acetyl transferase 2 polymorphisms in a UK population.
abstract: 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.
authors.affiliation: Nuffield Department of Obstetrics and Gynaecology, University of Oxford, John Radcliffe Hospital, Oxford, UK.
authors.forename: S
authors.initials: S
authors.lastname: Nakago
authors.forename: R M
authors.initials: RM
authors.lastname: Hadfield
authors.forename: K T
authors.initials: KT
authors.lastname: Zondervan
authors.forename: H
authors.initials: H
authors.lastname: Mardon
authors.forename: S
authors.initials: S
authors.lastname: Manek
authors.forename: D E
authors.initials: DE
authors.lastname: Weeks
authors.forename: D
authors.initials: D
authors.lastname: Barlow
authors.forename: S
authors.initials: S
authors.lastname: Kennedy
mesh_terms: D000328:Adult; D001191:Arylamine N-Acetyltransferase / Q000235:genetics*; D016022:Case-Control Studies; D004715:Endometriosis / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D006113:United Kingdom
chemical_list: D001191:Arylamine N-Acetyltransferase