title: Genetic variants associated with arsenic metabolism within human arsenic (+3 oxidation state) methyltransferase show wide variation across multiple populations.
abstract: Human arsenic (+3 oxidation state) methyltransferase (AS3MT) is known to catalyze the methylation of arsenite. The objective of this study was to investigate the diversity of the AS3MT gene in Mexican and German populations. The distribution of 18 single nucleotide polymorphisms (SNPs) in AS3MT was assessed on healthy individuals: 38 Mestizo, 69 Nahuas, 50 Huicholes, and 32 Germans. All 18 SNPs were polymorphic in the German and Mexican populations. Of the three Mexican populations, a minor allele frequency was the highest in the Mestizo, followed by the Nahuas and Huicholes. In the German and three Mexican groups, haplotype #1(TATAGAAGTCTTCATGAC) was the most predominant. Seven haplotypes were newly found in the German and three Mexican populations. The D' values between SNP pairs were high in the German and Nahua populations; they had a similar pattern. The pattern of the Mestizo was more similar to the African than to the other Mexican populations. Huicholes had a moderate pattern of the African and German/Nahua populations. The network had three clusters. One originated in the African population and another may have originated in an Asian (Chinese and/or Japanese) population. The third one may have originated among Caucasians. This study is the first to demonstrate the existence of genetic heterogeneity in the distribution of 18 SNPs in AS3MT of German and Mexican populations.
authors.affiliation: Department of Legal Medicine, Faculty of Medicine, Shimane University, 89-1 Enya, Izumo, 693-8501 Shimane, Japan.
authors.forename: Junko
authors.initials: J
authors.lastname: Fujihara
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Yasuda
authors.forename: Hideaki
authors.initials: H
authors.lastname: Kato
authors.forename: Isao
authors.initials: I
authors.lastname: Yuasa
authors.forename: Arturo
authors.initials: A
authors.lastname: Panduro
authors.forename: Takashi
authors.initials: T
authors.lastname: Kunito
authors.forename: Haruo
authors.initials: H
authors.lastname: Takeshita
mesh_terms: D001151:Arsenic / Q000378:metabolism* / Q000633:toxicity; D005260:Female; D005787:Gene Frequency; D005858:Germany; D006239:Haplotypes; D006801:Humans; D007198:Indians, North American / Q000235:genetics; D015810:Linkage Disequilibrium; D008297:Male; D008780:Methyltransferases / Q000235:genetics*; D008800:Mexico; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics
chemical_list: D008780:Methyltransferases; C505756:AS3MT protein, human; D001151:Arsenic