Abstract
This study aimed to evaluate in the Brazilian population, the genotypes and population frequencies of pharmacogenetic polymorphisms involved in the response to drugs used in treatment of acute lymphoblastic leukemia (ALL), and to compare the data with data from the HapMap populations. There was significant differentiation between most population pairs, but few associations between genetic ancestry and SNPs in the Brazilian population were observed. AMOVA analysis comparing the Brazilian population to all other populations retrieved from HapMap pointed to a genetic proximity with the European population. These associations point to preclusion of the use of genetic ancestry as a proxy for predicting drug response. In this way, any study aiming to correlate genotype with drug response in the Brazilian population should be based on pharmacogenetic SNP genotypes.
Highlights
Leukemia is a neoplastic disease derived from clonal expansion of blasts, which accumulate in the bone marrow preventing the formation of blood cells
The enzymes from folate pathways have single nucleotide polymorphisms (SNPs) that can influence the effects of MTX, and the study of these SNPs can help in the management of patient care [5,16,32], suggesting that population or inter-individual genetic differences may play an important role in pharmacogenetics responses [31]
We aimed to evaluate 20 different pharmacogenetic SNPs related to Acute Lymphoblastic Leukemia (ALL) drug response regarding population genetic differences between phase 3 HapMap populations [1] and the Brazilian population
Summary
Leukemia is a neoplastic disease derived from clonal expansion of blasts, which accumulate in the bone marrow preventing the formation of blood cells. The response to treatment and the presence of side effects vary among patients due to factors such as age, sex and genetics [10]. MTX is transported to the inside of the cell by the reduced folate carrier (RFC), which is very important to MTX efficacy [12, 16]. The enzymes from folate pathways have single nucleotide polymorphisms (SNPs) that can influence the effects of MTX, and the study of these SNPs can help in the management of patient care [5,16,32], suggesting that population or inter-individual genetic differences may play an important role in pharmacogenetics responses [31]. The variability in the response to drugs occurs within and between populations and to individualize treatment it is necessary to characterize the genetic variations between individuals
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