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N-acetyltransferase polymorphism in patients with Behçet's disease

The objective of our study was to investigate the possible role of human arylamine N-acetyltransferase 2 (NAT2) polymorphism in susceptibility to Behçet's disease. Eighty-five patients with Behçet's disease gave their written informed consent to participate in the study. Seven point mutations (G191A... Full description

Journal Title: European journal of clinical pharmacology 2001, Vol.57 (9), p.659-662
Main Author: AYNACIOGLU, A. Sükrü
Other Authors: BOZKURT, Atila , NACAK, Muradiye , KORTUNAY, Selim , TUNC, Recep , DINCEL, Aysun , KAYAALP, S. Oguz
Format: Electronic Article Electronic Article
Language: English
Subjects:
Publisher: Heidelberg: Springer
ID: ISSN: 0031-6970
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recordid: cdi_proquest_miscellaneous_72398030
title: N-acetyltransferase polymorphism in patients with Behçet's disease
format: Article
creator:
  • AYNACIOGLU, A. Sükrü
  • BOZKURT, Atila
  • NACAK, Muradiye
  • KORTUNAY, Selim
  • TUNC, Recep
  • DINCEL, Aysun
  • KAYAALP, S. Oguz
subjects:
  • Acetylation
  • Adult
  • Arylamine N-Acetyltransferase - genetics
  • Behcet Syndrome - etiology
  • Behcet Syndrome - genetics
  • Behcet Syndrome - metabolism
  • Biological and medical sciences
  • Dapsone - blood
  • Dapsone - metabolism
  • Dermatology
  • Female
  • Gene Frequency
  • General pharmacology
  • Genetic aspects
  • Genetics
  • Genotype
  • Humans
  • Liquid chromatography
  • Male
  • Medical sciences
  • Metabolites
  • Pharmacokinetics. Pharmacogenetics. Drug-receptor interactions
  • Pharmacology. Drug treatments
  • Phenotype
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Skin involvement in other diseases. Miscellaneous. General aspects
  • Turkey
ispartof: European journal of clinical pharmacology, 2001, Vol.57 (9), p.659-662
description: The objective of our study was to investigate the possible role of human arylamine N-acetyltransferase 2 (NAT2) polymorphism in susceptibility to Behçet's disease. Eighty-five patients with Behçet's disease gave their written informed consent to participate in the study. Seven point mutations (G191A, C282T, T341C, C481T, A803G, G590A, G857A) in the NAT2 gene were analysed using polymerase chain reaction/restriction fragment length polymorphism techniques. In addition, each patient received 100 mg dapsone orally to determine their NAT2 phenotype. Dapsone and its metabolite monoacetyl-dapsone were measured in 3-h plasma samples using high-performance liquid chromatography. Subjects with an acetylation ratio (monoacetyl-dapsone/dapsone) less than 0.4 were defined as slow acetylators. Of 85 patients with Behçet's disease, 54 (63.5%) were identified as genotypically slow acetylators. However, 60% (51 of 85) of patients were diagnosed as slow acetylators according to monoacetyl-dapsone/dapsone ratio. Thus, a low incidence of genotype/phenotype discrepancy (3.5%) was observed in Turkish patients with Behcet's disease. When we compared our results with previous phenotyping and genotyping studies in the Turkish population, frequencies of slow and rapid acetylators were not statistically different in patients with Behçet's disease. The frequency of the *5B allele was found to be slightly higher in patients with Behçet's disease than historic controls (44.7 vs 35.6%, P = 0.039). However, there was no significant difference in the frequency of the overall genotypes and alleles of NAT2 between patients and controls. Although the frequency of the NAT2*5B allele, responsible for slow acetylation, was slightly higher in patients than historic controls, our results failed to show an association between NAT2-acetylator status and risk for developing Behçet's disease.
language: eng
source:
identifier: ISSN: 0031-6970
fulltext: no_fulltext
issn:
  • 0031-6970
  • 1432-1041
url: Link


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titleN-acetyltransferase polymorphism in patients with Behçet's disease
creatorAYNACIOGLU, A. Sükrü ; BOZKURT, Atila ; NACAK, Muradiye ; KORTUNAY, Selim ; TUNC, Recep ; DINCEL, Aysun ; KAYAALP, S. Oguz
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descriptionThe objective of our study was to investigate the possible role of human arylamine N-acetyltransferase 2 (NAT2) polymorphism in susceptibility to Behçet's disease. Eighty-five patients with Behçet's disease gave their written informed consent to participate in the study. Seven point mutations (G191A, C282T, T341C, C481T, A803G, G590A, G857A) in the NAT2 gene were analysed using polymerase chain reaction/restriction fragment length polymorphism techniques. In addition, each patient received 100 mg dapsone orally to determine their NAT2 phenotype. Dapsone and its metabolite monoacetyl-dapsone were measured in 3-h plasma samples using high-performance liquid chromatography. Subjects with an acetylation ratio (monoacetyl-dapsone/dapsone) less than 0.4 were defined as slow acetylators. Of 85 patients with Behçet's disease, 54 (63.5%) were identified as genotypically slow acetylators. However, 60% (51 of 85) of patients were diagnosed as slow acetylators according to monoacetyl-dapsone/dapsone ratio. Thus, a low incidence of genotype/phenotype discrepancy (3.5%) was observed in Turkish patients with Behcet's disease. When we compared our results with previous phenotyping and genotyping studies in the Turkish population, frequencies of slow and rapid acetylators were not statistically different in patients with Behçet's disease. The frequency of the *5B allele was found to be slightly higher in patients with Behçet's disease than historic controls (44.7 vs 35.6%, P = 0.039). However, there was no significant difference in the frequency of the overall genotypes and alleles of NAT2 between patients and controls. Although the frequency of the NAT2*5B allele, responsible for slow acetylation, was slightly higher in patients than historic controls, our results failed to show an association between NAT2-acetylator status and risk for developing Behçet's disease.
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subjectAcetylation ; Adult ; Arylamine N-Acetyltransferase - genetics ; Behcet Syndrome - etiology ; Behcet Syndrome - genetics ; Behcet Syndrome - metabolism ; Biological and medical sciences ; Dapsone - blood ; Dapsone - metabolism ; Dermatology ; Female ; Gene Frequency ; General pharmacology ; Genetic aspects ; Genetics ; Genotype ; Humans ; Liquid chromatography ; Male ; Medical sciences ; Metabolites ; Pharmacokinetics. Pharmacogenetics. Drug-receptor interactions ; Pharmacology. Drug treatments ; Phenotype ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Skin involvement in other diseases. Miscellaneous. General aspects ; Turkey
ispartofEuropean journal of clinical pharmacology, 2001, Vol.57 (9), p.659-662
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descriptionThe objective of our study was to investigate the possible role of human arylamine N-acetyltransferase 2 (NAT2) polymorphism in susceptibility to Behçet's disease. Eighty-five patients with Behçet's disease gave their written informed consent to participate in the study. Seven point mutations (G191A, C282T, T341C, C481T, A803G, G590A, G857A) in the NAT2 gene were analysed using polymerase chain reaction/restriction fragment length polymorphism techniques. In addition, each patient received 100 mg dapsone orally to determine their NAT2 phenotype. Dapsone and its metabolite monoacetyl-dapsone were measured in 3-h plasma samples using high-performance liquid chromatography. Subjects with an acetylation ratio (monoacetyl-dapsone/dapsone) less than 0.4 were defined as slow acetylators. Of 85 patients with Behçet's disease, 54 (63.5%) were identified as genotypically slow acetylators. However, 60% (51 of 85) of patients were diagnosed as slow acetylators according to monoacetyl-dapsone/dapsone ratio. Thus, a low incidence of genotype/phenotype discrepancy (3.5%) was observed in Turkish patients with Behcet's disease. When we compared our results with previous phenotyping and genotyping studies in the Turkish population, frequencies of slow and rapid acetylators were not statistically different in patients with Behçet's disease. The frequency of the *5B allele was found to be slightly higher in patients with Behçet's disease than historic controls (44.7 vs 35.6%, P = 0.039). However, there was no significant difference in the frequency of the overall genotypes and alleles of NAT2 between patients and controls. Although the frequency of the NAT2*5B allele, responsible for slow acetylation, was slightly higher in patients than historic controls, our results failed to show an association between NAT2-acetylator status and risk for developing Behçet's disease.
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1Adult
2Arylamine N-Acetyltransferase - genetics
3Behcet Syndrome - etiology
4Behcet Syndrome - genetics
5Behcet Syndrome - metabolism
6Biological and medical sciences
7Dapsone - blood
8Dapsone - metabolism
9Dermatology
10Female
11Gene Frequency
12General pharmacology
13Genetic aspects
14Genetics
15Genotype
16Humans
17Liquid chromatography
18Male
19Medical sciences
20Metabolites
21Pharmacokinetics. Pharmacogenetics. Drug-receptor interactions
22Pharmacology. Drug treatments
23Phenotype
24Polymerase Chain Reaction
25Polymorphism, Genetic
26Skin involvement in other diseases. Miscellaneous. General aspects
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authorAYNACIOGLU, A. Sükrü ; BOZKURT, Atila ; NACAK, Muradiye ; KORTUNAY, Selim ; TUNC, Recep ; DINCEL, Aysun ; KAYAALP, S. Oguz
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2Arylamine N-Acetyltransferase - genetics
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4Behcet Syndrome - genetics
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7Dapsone - blood
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abstractThe objective of our study was to investigate the possible role of human arylamine N-acetyltransferase 2 (NAT2) polymorphism in susceptibility to Behçet's disease. Eighty-five patients with Behçet's disease gave their written informed consent to participate in the study. Seven point mutations (G191A, C282T, T341C, C481T, A803G, G590A, G857A) in the NAT2 gene were analysed using polymerase chain reaction/restriction fragment length polymorphism techniques. In addition, each patient received 100 mg dapsone orally to determine their NAT2 phenotype. Dapsone and its metabolite monoacetyl-dapsone were measured in 3-h plasma samples using high-performance liquid chromatography. Subjects with an acetylation ratio (monoacetyl-dapsone/dapsone) less than 0.4 were defined as slow acetylators. Of 85 patients with Behçet's disease, 54 (63.5%) were identified as genotypically slow acetylators. However, 60% (51 of 85) of patients were diagnosed as slow acetylators according to monoacetyl-dapsone/dapsone ratio. Thus, a low incidence of genotype/phenotype discrepancy (3.5%) was observed in Turkish patients with Behcet's disease. When we compared our results with previous phenotyping and genotyping studies in the Turkish population, frequencies of slow and rapid acetylators were not statistically different in patients with Behçet's disease. The frequency of the *5B allele was found to be slightly higher in patients with Behçet's disease than historic controls (44.7 vs 35.6%, P = 0.039). However, there was no significant difference in the frequency of the overall genotypes and alleles of NAT2 between patients and controls. Although the frequency of the NAT2*5B allele, responsible for slow acetylation, was slightly higher in patients than historic controls, our results failed to show an association between NAT2-acetylator status and risk for developing Behçet's disease.
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