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

S Nakago, Nakago S, Satoshi Nakago, Ruth M. Hadfield, R M Hadfield, Krina T. Zondervan, K T Zondervan, H Mardon, Mardon H, Manek S, S Manek, D E Weeks, Daniel E. Weeks, D. Barlow, Barlow D, Kennedy S, S Kennedy
Molecular human reproduction · 2001 · vol. 7(11) , pp. 1079–1083 · doi:10.1093/molehr/7.11.1079 · PMID:11675475 · W2139872756
Observational 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

endometriosis

MeSH descriptors

Arylamine N-Acetyltransferase Endometriosis Polymorphism, Genetic Polymorphism, Genetic Adult Adult Arylamine N-Acetyltransferase Arylamine N-Acetyltransferase Case-Control Studies Case-Control Studies Endometriosis Endometriosis Female Female Genetic Predisposition to Disease Genetic Predisposition to Disease Genetics, Population Genetics, Population Humans Humans

Citation neighborhood (2-hop)

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. Outer rings show 2-hop neighbours — papers reached through the immediate citers/citees. [ collapse to 1-hop ]

References (35)

Cited by (41)

Source provenance

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