Polymorphisms of CYP1A1, CYP2E1, GSTM1, GSTT1, and TP53 genes in Amerindians

Pedro A. Gaspar, Mara H. Hutz, Francisco M. Salzano, Kim Hill, A. Magdalena Hurtado, M. Luiza Petzl-Erler, Luiza T. Tsuneto, Tania A. Weimer

Research output: Contribution to journalArticlepeer-review

60 Scopus citations


Polymorphisms at the TP53, cytochrome P-450 (CYP), and glutathione S-transferase (GST) genes are related to cancer susceptibility and present high diversity in allele frequencies among ethnic groups. This study concerns the CYP2E1, GSTM1, and GSTT1 polymorphisms in seven Amerindian populations (Xavante, Guarani, Aché, Wai Wai, Zoró, Surui, and Gavião). Polymorphic sites at CYP1A1 and TP53 were also studied in the Aché and Guarani tribes and compared with previous results about these systems already obtained in the other populations. The CYP2E1*5B haplotype showed, respectively, the highest and the lowest frequencies already observed in human groups. High frequencies of CYP1A1*2A and CYP1A1*2C alleles and mostly low values of GSTM1*0/*0 and GSTT1*0/*0 genotypes were observed. These data may be interpreted as being due to genetic drift or selection for these high-frequency CYP1A1 alleles and against GST null genotypes during America's colonization. Intrapopulation diversity varied from 0.19 (Guarani) to 0.38 (Surui), and 90% of the total diversity was due to the variability within populations. The relationships between these Amerindians and with other ethnic groups were evaluated based on DA distances and the neighbor-joining method. Low correlation was observed between genetic relationships and geographic distances or linguistic groups. In the TP53 comparison with other ethnic groups, Amerindians clustered together and then joined Chinese populations. The cluster analysis seems to indicate that the Aché tribe might descend from a Gê group that could have first colonized that Paraguayan region, but had also assimilated some amount of the Guarani gene pool, maybe through intertribal admixture.

Original languageEnglish (US)
Pages (from-to)249-256
Number of pages8
JournalAmerican journal of physical anthropology
Issue number3
StatePublished - Nov 1 2002
Externally publishedYes


  • Gene diversity
  • Molecular markers
  • South American Indians

ASJC Scopus subject areas

  • Anatomy
  • Anthropology


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