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Titolo:
Association between endometriosis and N-acetyl transferase 2 polymorphismsin a UK population
Autore:
Nakago, S; Hadfield, RM; Zondervan, KT; Mardon, H; Manek, S; Weeks, DE; Barlow, D; Kennedy, S;
Indirizzi:
Univ Oxford, John Radcliffe Hosp, Nuffield Dept Obstet & Gynaecol, Oxford OX3 9DU, England Univ Oxford Oxford England OX3 9DU t & Gynaecol, Oxford OX3 9DU, England Kobe Univ, Acad Dept Obstet & Gynaecol, Kobe, Hyogo, Japan Kobe Univ KobeHyogo Japan ad Dept Obstet & Gynaecol, Kobe, Hyogo, Japan Univ Oxford, Dept Publ Hlth & Primary Care, Oxford OX3 9DU, England Univ Oxford Oxford England OX3 9DU Primary Care, Oxford OX3 9DU, England John Radcliffe Hosp, Dept Cellular Pathol, Oxford OX3 9DU, England John Radcliffe Hosp Oxford England OX3 9DU thol, Oxford OX3 9DU, England Univ Pittsburgh, Dept Human Genet, Pittsburgh, PA USA Univ Pittsburgh Pittsburgh PA USA , Dept Human Genet, Pittsburgh, PA USA
Titolo Testata:
MOLECULAR HUMAN REPRODUCTION
fascicolo: 11, volume: 7, anno: 2001,
pagine: 1079 - 1083
SICI:
1360-9947(200111)7:11<1079:ABEANT>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE; ARYLAMINE N-ACETYLTRANSFERASE-2; MONOZYGOTIC TWINS; MACACA-MULATTA; FAMILIAL RISK; SUSCEPTIBILITY; CARCINOMA; CANCER; SAMPLE; GENES;
Keywords:
endometriosis; genetics; NAT 2;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
32
Recensione:
Indirizzi per estratti:
Indirizzo: Kennedy, S Univ Oxford, John Radcliffe Hosp, Nuffield Dept Obstet & Gynaecol, Oxford OX3 9DU, England Univ Oxford Oxford England OX3 9DU l, Oxford OX3 9DU, England
Citazione:
S. Nakago et al., "Association between endometriosis and N-acetyl transferase 2 polymorphismsin a UK population", MOL HUM REP, 7(11), 2001, pp. 1079-1083

Abstract

The relationship between endometriosis and polymorphisms in the N-acetyl transferase 2 (NAT 2) gene was investigated in a UK population, as this genehas 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 anda 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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/04/20 alle ore 15:10:59