Results
| PMID | 10381818 |
| Gene Name | NAT2 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | NAT2*5 allele |
| Population size | 137 |
| Population details | 137 (36 minimal/mild endometriosis, 29 moderate/severe endometriosis, 72 controls) |
| Sex | Female |
| Associated genes | GSTT1, NAT2, GSTM1 |
| Other associated phenotypes |
Endometriosis |
|
Mol Hum Reprod. 1999 Jul;5(7):636-41. Baranova, H| Canis, M| Ivaschenko, T| Albuisson, E| Bothorishvilli, R| Baranov, V| Malet, P| Bruhat, M A Laboratoire d'Histologie-Embryologie-Cytogenetique, Faculte de Medecine, Universite d'Auvergne, 28 Place H.Dunant, B.P. 38, Clermont-Ferrand 63001, France. Wide inter-individual variation of expression of compound metabolic enzymes is determined by polymorphism and may predispose the development of diseases provoked by environmental factors. The combined analysis of phase II detoxification system genes: arylamine N-acetyltransferase 2 (NAT2), and glutathione S-transferases (GST) M1 and T1 was carried out in patients with minimal/mild (group I; n = 36) and moderate/severe endometriosis (group II; n = 29) and controls (n = 72) of French origin, using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). The results show a significant difference between patients and controls with regard to NAT2 gene polymorphism (P < 0.05). This is mainly due to the high percentage of slow acetylator genotypes (SA) in patients compared with controls (60.0 versus 38.9%; P < 0.02) with a distinct preponderance in subjects with minimal/mild endometriosis (69.4%, P < 0.005) where there is a significantly elevated frequency of slow allele S1 (NAT2*5) (P = 0.05). Significantly increased proportions of GSTM1-deficient genotypes were found in both groups of patients, in comparison with the controls (75.0 and 79.3% versus 45.8%; P < 0. 0001). A preponderance of GSTT1-negative subjects among patients was also detected, but did not appear significant. We suggest the involvement of both NAT2 and GSTM1 detoxification system genes in the pathogenesis of endometriosis and the possible impact of NAT2 gene polymorphism in the development of different forms of this disease. Mesh Terms: Arylamine N-Acetyltransferase/*genetics| DNA/blood| DNA Primers| Endometriosis/*enzymology/*genetics/physiopathology| Endometrium/pathology| Female| France| Glutathione Transferase/*genetics| Humans| Infertility, Female/etiology| Isoenzymes/gene |
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