Association between endometriosis and N-acetyl transferase 2 polymorphisms in a UK population

Satoshi Nakago, S Nakago, R M Hadfield, K T Zondervan, H Mardon, S Manek, D E Weeks, D Barlow, S Kennedy
Molecular human reproduction · 2001 · vol. 7(11) , pp. 1079–1083 · doi:10.1093/molehr/7.11.1079 · PMID:11675475 · W2139872756
article OA: bronze CC0 ⤵ 41 in-corpus citations
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This study found that the NAT 2 *4/*6 genotype and fast NAT 2 acetylator status were significantly more common in UK women with endometriosis.

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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.

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Arylamine N-Acetyltransferase Endometriosis Polymorphism, Genetic Adult Arylamine N-Acetyltransferase Case-Control Studies Endometriosis Female Genetic Predisposition to Disease Genetics, Population Humans Male Middle Aged United Kingdom

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Cited by (41)

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