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N-acetyltransferase polymorphism in patients with Behçet's disease
A S Aynacioglu1, A Bozkurt, M Nacak
1Department of Pharmacology, Faculty of Medicine, Gaziantep University, Turkey. aynacioglu@hotmail.com
European Journal of Clinical Pharmacology
|January 17, 2002
Summary
This study investigated human arylamine N-acetyltransferase 2 (NAT2) polymorphism in Behçet's disease susceptibility. Results indicate no significant association between NAT2-acetylator status and the risk of developing Behçet's disease.
Area of Science:
- Pharmacogenetics
- Immunology
- Genetics
Background:
- Behçet's disease is a complex inflammatory disorder with uncertain etiology.
- Human arylamine N-acetyltransferase 2 (NAT2) enzyme activity is subject to genetic polymorphism, influencing drug metabolism and potentially disease susceptibility.
- Previous studies have explored associations between NAT2 variants and various diseases, but its role in Behçet's disease remains unclear.
Purpose of the Study:
- To investigate the potential association between NAT2 gene polymorphism and susceptibility to Behçet's disease.
- To determine the NAT2 acetylator phenotype in patients with Behçet's disease.
- To compare NAT2 genotype and phenotype frequencies between Behçet's disease patients and control populations.
Main Methods:
- Genotyping of seven point mutations in the NAT2 gene using polymerase chain reaction/restriction fragment length polymorphism.
- Phenotyping NAT2 activity by oral dapsone administration and measuring the acetylation ratio (monoacetyl-dapsone/dapsone) in plasma via high-performance liquid chromatography.
- Analysis of genotype-phenotype correlation and comparison of allele/genotype frequencies between 85 Behçet's disease patients and historical controls.
Main Results:
- A high concordance between genotypic and phenotypic slow acetylator status was observed in Turkish patients with Behçet's disease (3.5% discrepancy).
- No statistically significant differences were found in the frequencies of overall NAT2 genotypes and alleles between Behçet's disease patients and controls.
- The NAT2*5B allele, associated with slow acetylation, showed a slightly higher frequency in patients (44.7%) compared to historical controls (35.6%), though this did not reach statistical significance for overall disease association.
Conclusions:
- The study did not establish a significant association between NAT2-acetylator status (both genotype and phenotype) and the risk of developing Behçet's disease.
- While a trend for increased NAT2*5B allele frequency was noted in patients, it was insufficient to confirm a role in Behçet's disease pathogenesis.
- Further research may be needed to explore other genetic or environmental factors contributing to Behçet's disease susceptibility.