Identification of Genomic Variants Associated with the Risk of Acute Lymphoblastic Leukemia in Native Americans from Brazilian Amazonia

A number of genomic variants related to native American ancestry may be associated with an increased risk of developing Acute Lymphoblastic Leukemia (ALL), which means that Latin American and hispanic populations from the New World may be relatively susceptible to this disease. However, there has no...

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Published in:	Journal of personalized medicine Vol. 12; no. 6; p. 856
Main Authors:	Leitão, Luciana P. C., de Carvalho, Darlen C., Rodrigues, Juliana C. G., Fernandes, Marianne R., Wanderley, Alayde V., Vinagre, Lui W. M. S., da Silva, Natasha M., Pastana, Lucas F., Gellen, Laura P. A., Assunção, Matheus C. E., Fernandes, Sweny S. M., Pereira, Esdras E. B., Ribeiro-Dos-Santos, André M., Guerreiro, João F., Ribeiro-dos-Santos, Ândrea, de Assumpção, Paulo P., dos Santos, Sidney E. B., dos Santos, Ney P. C.
Format:	Journal Article
Language:	English
Published:	Basel MDPI AG 25-05-2022 MDPI
Subjects:	Acute lymphoblastic leukemia Alleles Cancer Cell cycle Gene frequency Genealogy Genes Genetic diversity Genetic engineering Genomes Genomics Health risk assessment Hispanic people Leukemia Minority & ethnic groups Mutation Precision medicine Proteins Software Brazil United States > US Europe
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Summary:	A number of genomic variants related to native American ancestry may be associated with an increased risk of developing Acute Lymphoblastic Leukemia (ALL), which means that Latin American and hispanic populations from the New World may be relatively susceptible to this disease. However, there has not yet been any comprehensive investigation of the variants associated with susceptibility to ALL in traditional Amerindian populations from Brazilian Amazonia. We investigated the exomes of the 18 principal genes associated with susceptibility to ALL in samples of 64 Amerindians from this region, including cancer-free individuals and patients with ALL. We compared the findings with the data on populations representing five continents available in the 1000 Genomes database. The variation in the allele frequencies found between the different groups was evaluated using Fisher’s exact test. The analyses of the exomes of the Brazilian Amerindians identified 125 variants, seven of which were new. The comparison of the allele frequencies between the two Amerindian groups analyzed in the present study (ALL patients vs. cancer-free individuals) identified six variants (rs11515, rs2765997, rs1053454, rs8068981, rs3764342, and rs2304465) that may be associated with susceptibility to ALL. These findings contribute to the identification of genetic variants that represent a potential risk for ALL in Amazonian Amerindian populations and might favor precision oncology measures.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 These authors contributed equally to this work.
ISSN:	2075-4426 2075-4426
DOI:	10.3390/jpm12060856