title: Variation of the N-acetyltransferase 2 gene in a Romanian and a Kyrgyz population.
abstract: As part of a project on environmental disasters in minority populations, this study aimed to evaluate differences in the sequence of N-acetyltransferase 2 (NAT2) as a metabolic susceptibility gene in yet unexplored ethnicities. Eight single nucleotide polymorphisms (SNP) in the NAT2 coding region and a variant in the 3' flanking region were analyzed in 290 unrelated Kyrgyz and 140 unrelated Romanians by SNP-specific PCR analysis. The variants 341C, 481T, and 803G were less and 857A more prevalent in Kyrgyz (P < 0.0001). The variant at site 857 indicates Asian descent. 282C>T and 590G>A showed no significant variation by ethnicity. 364G>A and 411A>T turned out to be monomorphic. Database comparisons of the NAT2 minor allele frequencies support that Romanians belong to Caucasians and Kyrgyz are in between Caucasians and East Asians. The distributions of predicted haplotypes differed significantly between the two ethnicities where the Kyrgyz showed a higher genetic diversity. The haplotype without mutations was more common in Kyrgyz (40.1% in Kyrgyz, 29.3% in Romanians). Accordingly, the imputed slow acetylator phenotype was less prevalent in Kyrgyz (35.2% versus 51.4% in Romanians). We found pronounced ethnic differences in NAT2 genotypes with yet unknown effect on the health risks for environmental or occupational exposures in minority populations.
authors.affiliation: Berufsgenossenschaftliches Forschungsinstitut für Arbeitsmedizin, Institute of Ruhr University of Bochum, Bürkle-de-la-Camp-Platz 1, D-44789 Bochum, Germany. rabstein@bgfa.de
authors.forename: Sylvia
authors.initials: S
authors.lastname: Rabstein
authors.forename: Klaus
authors.initials: K
authors.lastname: Unfried
authors.forename: Ulrich
authors.initials: U
authors.lastname: Ranft
authors.forename: Thomas
authors.initials: T
authors.lastname: Illig
authors.forename: Melanie
authors.initials: M
authors.lastname: Kolz
authors.forename: Hans-Peter
authors.initials: HP
authors.lastname: Rihs
authors.forename: Chinara
authors.initials: C
authors.lastname: Mambetova
authors.forename: Mariana
authors.initials: M
authors.lastname: Vlad
authors.forename: Thomas
authors.initials: T
authors.lastname: Brüning
authors.forename: Beate
authors.initials: B
authors.lastname: Pesch
mesh_terms: D000107:Acetylation; D001191:Arylamine N-Acetyltransferase / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007707:Kyrgyzstan; D020641:Polymorphism, Single Nucleotide; D012383:Romania; D044465:White People / Q000235:genetics*
chemical_list: D001191:Arylamine N-Acetyltransferase; C478900:NAT2 protein, human