Distribution of arylamine N-acetyltransferase 2 (nat2) genotypes among Omanis (original) (raw)
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Arylamine N-acetyltransferase (NAT2) genotypes in Africans
Pharmacogenetics, 2003
This study was carried out to characterize the distribution of NAT2 allelic variants among a sample of three African populations. We determined the frequencies of major NAT2 allele clusters (NAT2 à 5, à 6, à 7 and à 14) using PCR/ restriction fragment length polymorphism and sequencing techniques. The genotypes predict slow acetylator phenotypes of 49, 38 and 52% among Tanzanians, Venda and Zimbabweans, respectively. The most common genotype was NAT2 à 4/ à 5. NAT2 à 5 was the most common allele while NAT2 à 7 was the least common. A new allele with two base changes occurring together, 481C>T and 590G>A, is reported. The frequency of the occurrence of the combination 481C>T and 590G>A, was found to be 9% (30/326), 7% (14/192) and 8% (18/234) among Zimbabweans, Venda and Tanzanians, respectively. The allele has been named NAT2 à 6E. Among Africans, the change 481C>T is not only associated with 341C>T (i.e. the NAT2 à 5 allele cluster) as in other populations, but also with 590G>A on the same allele. Pharmacogenetics
Pharmacogenetics …, 2003
This study was carried out to characterize the distribution of NAT2 allelic variants among a sample of three African populations. We determined the frequencies of major NAT2 allele clusters (NAT2 à 5, à 6, à 7 and à 14) using PCR/ restriction fragment length polymorphism and sequencing techniques. The genotypes predict slow acetylator phenotypes of 49, 38 and 52% among Tanzanians, Venda and Zimbabweans, respectively. The most common genotype was NAT2 à 4/ à 5. NAT2 à 5 was the most common allele while NAT2 à 7 was the least common. A new allele with two base changes occurring together, 481C>T and 590G>A, is reported. The frequency of the occurrence of the combination 481C>T and 590G>A, was found to be 9% (30/326), 7% (14/192) and 8% (18/234) among Zimbabweans, Venda and Tanzanians, respectively. The allele has been named NAT2 à 6E. Among Africans, the change 481C>T is not only associated with 341C>T (i.e. the NAT2 à 5 allele cluster) as in other populations, but also with 590G>A on the same allele. Pharmacogenetics
Arylamine N-acetyltransferase 2 slow acetylator polymorphisms in unrelated Iranian individuals
European Journal of Clinical Pharmacology, 2004
Objective: To determine the frequency of mutations at the polymorphic gene coding for arylamine N-acetyltransferase 2 (NAT2, EC 2.3.1.5) and NAT2 genotypes associated with slow acetylation in healthy Iranian individuals. Methods: The polymorphisms in the NAT2 gene from 88 unrelated healthy subjects (48 men/40 women) from the general Tehran population were discriminated using polymerase chain reaction (PCR) with allele-specific primers (341 C>T) and PCR-restriction fragment length polymorphism analysis (481 C>T, 590 G>A, and 857 G>A). Results: Frequencies of the studied polymorphisms showed the most common alleles to be NAT2*4 (0.43) and NAT2*5, 481 C>T (0.32), followed by NAT2*6 (0.19) and NAT2*7 (0.06), previously referred to as WT, M1, M2, and M3, respectively. The most prevalent genotypes were NAT2*4/*5 [(31.8%; 95% confidence interval (CI): 29-34%] and *4/*4 (18.2%; 95% CI: 16-21%). When grouped according to the expected phenotypical effects, the resulting genotypes revealed the significant prevalence of the subjects with slow (32.9%) and intermediate (48.9%) acetylation status compared with wild-type rapid (18.2%) acetylators (P<0.01). Conclusions: The overall allele pattern and acetylator status distribution in Iranians displayed the considerable prevalence of ''slow acetylators'' over ''rapid acetylators,'' similar to those of Caucasians except for a minor difference observed in the frequency of the NAT2*7 allele. Nucleic acid testing for common NAT2 mutations might be a potentially useful tool for an accurate phe-notype interpretation and identification of Iranian individuals at risk.
The study was carried out to investigate the distribution of arylamine N-acetyltransferase 2 (NAT2) allele frequencies associated with slow acetylation in healthy individuals from the three major Nigeria ethnic groups comprising of Hausa, Ibo and Yoruba. The single nucleotide polymorphisms (SNPs) in the NAT2 gene from three hundred unrelated subjects comprising, Hausa (N=98), Ibo (N=101) and Yoruba (N=101) who consented to the study were genotyped by polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP) techniques (481 C>T, 590 G>A) and DNA sequencing (191 G>A, 857 G>A). The allele frequencies of the investigated SNPs indicates that NAT2*4, wild-type (34%; 95% confidence interval (CI): 22-38%) is the most prevalent allele in Hausa, NAT2*6, G>A (29%; 95% CI: 22-37%) is the most common in Ibo while NAT2*5, 481 C>T (33%; 95% CI: 21-37%) is the most recorded in Yoruba populations. The most prevalent alleles in the three populations are the wild ...
Dose-Response
The main aim of the study was to establish the acetylation status of local population of Pakistan by N-acetyltransferase 2 (NAT2) enzyme and to find out the concordance between phenotypic and genotypic methods for the determination of NAT2 acetylation. Gender-wise comparison of selected healthy male and female volunteers aged greater than 18 years was also conducted to see the effect of sex on NAT2 acetylation. Phenotypically, the rate of acetylation was determined by high-pressure liquid chromatography with dapsone (DDS) probe drug, while genotypically, NAT2 acetylation was determined by using specific primers for NAT2 variant alleles (M1, M2, and M3) amplified in separate polymerase chain reactions. High-pressure liquid chromatography results indicated 64% of the male volunteers to be fast acetylators while 36% were slow acetylators, while ratio of fast and slow acetylators for female was found to be 66% and 34%, respectively. Genotypically, the ratio of fast and slow for male was...
Journal of Human Genetics, 2008
Polymorphisms of arylamine N-acetyltransferase 2 (NAT2) are reportedly associated with the risk of drug toxicities and development of various diseases. The present study examined NAT2 polymorphisms in both promoter and coding regions in the Indonesian population using PCR direct sequencing. The promoter and coding regions of NAT2 displayed 23 polymorphisms/variations, including eight new ones. Seven haplotypes in the promoter region and six haplotypes in the coding region were inferred. The haplotypes in promoter and coding regions showed limited combinations, and 13 combined haplotypes were inferred. The most frequent haplotypes were U1 (38.9%), U2 (33.5%) in the promoter region and NAT2*4 (37.3%), NAT2*6A (36.8%) in the coding region. When converted to predicted phenotypes, the studied population comprised 65.4% rapid acetylators and 35.6% slow acetylators according to bimodal distribution. According to trimodal distribution, frequencies of predicted phenotypes were 13.6, 50.8 and 35.6% for rapid, intermediate and slow acetylators, respectively. Frequencies of NAT2 alleles for the Indonesian population resembled those of other Southeast Asian populations. We also propose a new NAT2
BioMed Research International, 2020
One of the well-studied phase II drug metabolizing enzymes is N-acetyltransferase 2 (NAT2) which has an essential role in the detoxification and metabolism of several environmental toxicants and many therapeutic drugs like isoniazid (antituberculosis, TB) and antimicrobial sulfonamides. According to the variability in the acetylation rate among different ethnic groups, individuals could be classified into slow, intermediate, and fast acetylators; these variabilities in the acetylation rate are a result of single nucleotide polymorphisms (SNPs) in the coding sequence of NAT2. The variety of NAT2 acetylation status is associated with some diseases such as bladder cancer, colorectal cancer, rheumatoid arthritis, and diabetes mellitus. The main objectives of this research are to describe the genetic profile of NAT2 gene among the people of the Al-Ahsa region, to detect the significant SNPs of this gene, to determine the frequency of major NAT2 alleles and genotypes, and then categorize ...
Arylamine N-acetyltransferase 2 genotypes in a Mexican population
Genetics and Molecular Research, 2012
NAT2 genotypes in Mexicans Turkish population was significantly different from ours. We conclude that the mixed-race Mexican population requires special attention because NAT2 genotype frequencies differ from those in other regions of the world.
Distribution of N-acetyltransferase Type 1 (NAT1) genotypes and alleles in a Turkish population
Genetics and Molecular Biology, 2004
NAT1 is an intronless gene on chromosome 8p21.3 encoding a 290-amino-acid-long protein showing acetyltransferase activity. Some 26 alleles of NAT1 gene have been identified in human populations. In the present study we determined the distributions of NAT1 genotypes and alleles in a sample of 201 individuals from the Turkish population in Central Anatolia. The most frequent genotypes were NAT1*4/NAT1*4 (51.74%), NAT1*10/NAT1*4 (22.39%), NAT1*11/NAT1*4 (7.46), NAT1*10/NAT1*10 (3.98%). Frequencies of NAT1*3, *4 (wild-type), *10 and *11 alleles were 3.73%, 69.6%, 17.66% and 7.2%, respectively. The frequency of NAT1*11 was the highest amongst the populations studied so far, the other allele frequencies being close to those described in Caucasian populations.
Molecular analysis of the arylamine N-acetyltransferase polymorphism in a Spanish population
Clinical Pharmacology & Therapeutics, 1994
The arylamine N-acetyltransferase (NAT-2) polymorphism causes impaired drug metabolism in about half of the white population. By the combined use of polymerase chain reaction (PCR) and restriction mapping with the endonucleases Fok I and Dde I, we have studied the genetic basis underlying NAT-2 polymorphism in genotnic deoxyribonucleic acid from 245 healthy Spaniards. The study of three mutations at the NAT-2 gene locus by PCR analysis (namely, 481T, 590A, and 857A) revealed that all these mutations were present in Spaniards at similar frequencies as described in other white populations, strongly contrasting with genetic differences in the CYP2D6 polymorphism between Spaniards and other white subjects. The frequencies for NAT-2 mutations were different in Spaniards compared with Hispanics. About 12% of the subjects studied were incorrectly genotyped by the PCR test. Further studies involving restriction mapping of PCR products revealed the occurrence of at least five NAT-2 mutations that, alone or combined, were present in eight allelic variants of the NAT-2 gene. The allele frequencies were as follows: wild type, 25.