“ Allele and genotype frequencies of metabolic genes in Native Americans from Argentina and Paraguay

G BAILLIET, MR SANTOS, EL ALFARO, JE DIPIERRI, DA DEMARCHI, FR CARNESE, NO BIANCHI

MUTATION RESEARCH. GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS

ELSEVIER

Lugar: Amsterdam; Año: 2006 vol. 627 p. 171 - 177

1383-5718

Abstract Interethnic differences in the allele frequencies of CYP2D6, NAT2, GSTM1 and GSTT1 deletions have been documented for Caucasians, Asians, and Africans population. On the other hand, data on Amerindians are scanty and limited to a few populations from southern areas of South America. In this report we analyze the frequencies of 11 allele variants of CYP2D6 and 4 allele variants of NAT2 genes, and the frequency of GSTM1 and GSTT1 homozygous deleted genotypes in a sample of 90 donors representing 8 Native American populations from Argentina and Paraguay, identified as Amerindians on the basis of their geographic location, genealogical data, mitochondrial- and Y-chromosome DNA markers.  For CYP2D6, 88.6% of the total allele frequency corresponded to *1, *2, *4 and *10 variants. Average frequencies for NAT2 *4, *5, *6 and *7  alleles were 51.2%, 25%, 6.1%, and 20.1% respectively. GSTM1 deletion ranged from  20% to 66%, while GSTT1 deletion was present in 4 populations in less than 50%. We assume that CYP2D6 *2, *4, *10, *14; NAT2 *5, *7 alleles and GSTM1 and GSTT1 *0/*0 genotypes are founder variants brought to America by the first Asian settlers.