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Polymorphic N-acetyltransferase (NAT2) genotyping of Emiratis
N M Woolhouse1, M M Qureshi, S M Bastaki
1Department of Biochemistry, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain, UAE.
Pharmacogenetics
|February 1, 1997
Summary
Emirati populations exhibit a high prevalence of slow acetylator N-acetyltransferase (NAT2) genotypes, with specific NAT2*5 and NAT2*6 alleles being most common. This study identified potential new slow acetylator alleles in this demographic.
Area of Science:
- Pharmacogenomics
- Human Genetics
- Biochemistry
Background:
- The N-acetyltransferase (NAT2) enzyme plays a crucial role in the metabolism of various drugs and environmental chemicals.
- Genetic variations in the NAT2 gene lead to different acetylation phenotypes, impacting drug efficacy and toxicity.
- Understanding NAT2 genotype frequencies in diverse populations is essential for personalized medicine.
Purpose of the Study:
- To determine the allele frequencies and genotype distributions of the polymorphic N-acetyltransferase (NAT2) gene in an Emirati population.
- To assess the concordance between NAT2 phenotype and genotype in this cohort.
- To identify novel NAT2 alleles or variants within the Emirati population.
Main Methods:
- Genotyping of 106 unrelated Emiratis using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) analysis.
- Analysis of thirteen different NAT2 genotypes, categorizing them into rapid and slow acetylator phenotypes.
- Calculation of allele frequencies for identified NAT2 variants.
Main Results:
- A high prevalence of slow acetylator phenotypes was observed (67 out of 106 individuals).
- The NAT2*5 allele (C481T) was the most frequent slow acetylator allele (0.53), significantly higher than in other ethnic groups.
- Two novel slow acetylator alleles were identified, one appearing to be a NAT2*5 variant, suggesting unique genetic diversity in Emiratis.
Conclusions:
- The Emirati population demonstrates a high frequency of alleles associated with slow N-acetyltransferase (NAT2) acetylation, consistent with other Arab populations.
- The study identified common NAT2 genotypes (NAT2*5/*5, NAT2*5/*6, NAT2*4/*5) and highlights the need for further characterization of newly discovered slow alleles.
- These findings have implications for drug metabolism and personalized pharmacotherapy in the Emirati population.