Molecular Human Reproduction, Vol. 7, No. 11, 1079-1083,
November 2001
© 2001 European Society of Human Reproduction and Embryology
Uterine physiology |
Association between endometriosis and N-acetyl transferase 2 polymorphisms in a UK population
1 Nuffield Department of Obstetrics and Gynaecology, University of Oxford, John Radcliffe Hospital, Oxford, UK 2 Academic Department of Obstetrics and Gynaecology, University of Kobe, Japan 3 Department of Public Health and Primary Care, University of Oxford 4 Department of Cellular Pathology, John Radcliffe Hospital, Oxford, UK 5 Department of Human Genetics, University of Pittsburgh, Pittsburgh, USA
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.
endometriosis/genetics/NAT 2
Notes
6 To whom correspondence should be addressed. E-mail: skennedy{at}molbiol.ox.ac.uk
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