Abstract
Acute Lymphoblastic Leukemia (ALL) is the most common cancer in children. Differences are found among ethnic groups in the results of the treatment of pediatric ALL. In general, children with a high level of native American ancestry tend to respond less positively to ALL treatments, which may be related to specific genomic variants found in native American groups. Despite the evidence, few data are available on the distribution of the pharmacogenomic variants relevant to the treatment of ALL in traditional Amerindian populations, such the those of the Amazon region. Given this, the present study investigated 27 molecular markers related to the treatment of ALL in Amerindians from Brazilian Amazonia and compared the frequencies with those recorded previously on five continents, that are available in the 1,000 Genomes database. The variation in the genotype frequencies among populations was evaluated using Fisher’s exact test. The False Discovery Rate method was used to correct the results of the multiple analyses. Significant differences were found in the frequencies of the majority of markers between the Amerindian populations and those of other regions around the world. These findings highlight the unique genetic profile of the indigenous population of Brazilian Amazonia, which may reflect a distinct therapeutic profile for the treatment of ALL in these populations.
Highlights
Acute Lymphoblastic Leukemia (ALL) is the most common cancer in children
Hispanic children present worse results in the treatment of ALL than European c hildren[5,6,7,9]. This difference may be related to an increase in the frequency of variants of the germinative lineage associated with native American ancestry in Hispanic patients, which have a negative influence on the treatment of ALL9
Disparities among ethnic groups in the treatment of ALL have been reported w idely[5,6,7,8,9,10], and the evidence indicates, in particular, that Hispanic children have the worst response to the therapeutic treatment of this cancer[5,6,7,9]
Summary
Acute Lymphoblastic Leukemia (ALL) is the most common cancer in children. Differences are found among ethnic groups in the results of the treatment of pediatric ALL. Hispanic children present worse results in the treatment of ALL than European c hildren[5,6,7,9] This difference may be related to an increase in the frequency of variants of the germinative lineage associated with native American ancestry in Hispanic patients, which have a negative influence on the treatment of ALL9. The vast majority of the available studies have focused on European or American populations, which emphasizes the need to identify the genetic profile of Amerindian populations, in particular the variants that are significantly more common in these populations, as well as compiling a database for the development of clinical applications appropriate for this ethnic group and for populations admixed with this group, such as the general Brazilian p opulation[11]
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