Association of genes ARID5B, CEBPE and folate pathway with acute lymphoblastic leukemia in a population from the Brazilian Amazon region

Carvalho, Darlen Cardoso de; Wanderley, Alayde Vieira; Mello, Fernando Augusto Rodrigues; Santos, Alex José Souza dos; Leitão, Luciana Pereira Colares; Souza, Tatiane Piedade de; Castro, Amanda de Nazaré Cohen Lima de; Magalhães, Leandro; Fernandes, Marianne Rodrigues; Junior, João Augusto Nunes de Carvalho; Khayat, André Salim; Santos, Sidney; Assumpção, Paulo Pimentel de; Santos, Ney Pereira Carneiro dos

doi:10.1016/j.lrr.2019.100188

Cited by 5 publications

(4 citation statements)

References 35 publications

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“…In a case-control study of childhood ALL in Brazil, including 121 cases and 155 controls, genotyping of a small number of candidate SNPs as well as ancestry informative markers was performed. An association with ALL risk SNPs in ARID5B and CEBPE was confirmed, and as might be predicted the Brazilian childhood ALL cases had significantly higher Indigenous American ancestry proportions than controls (34% vs. 28%) (84). These few examples notwithstanding, genetic association studies of childhood ALL in Latin America are lacking.…”

Section: Genetic Variation and All Risk In Children In Latin Americamentioning

confidence: 80%

The genetic risk of acute lymphoblastic leukemia and its implications for children of Latin American origin

de Smith,

Jiménez-Morales,

Mejía-Aranguré

2024

Front. Oncol.

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Acute lymphoblastic leukemia (ALL) is the most common cancer in children, and disproportionately affects children of Hispanic/Latino ethnicity in the United States, who have the highest incidence of disease compared with other racial/ethnic groups. Incidence of childhood ALL is similarly high in several Latin American countries, notably in Mexico, and of concern is the rising incidence of childhood ALL in some Hispanic/Latino populations that may further widen this disparity. Prior studies have implicated common germline genetic variants in the increased risk of ALL among Hispanic/Latino children. In this review, we describe the known disparities in ALL incidence as well as patient outcomes that disproportionately affect Hispanic/Latino children across the Americas, and we focus on the role of genetic variation as well as Indigenous American ancestry in the etiology of these disparities. Finally, we discuss future avenues of research to further our understanding of the causes of the disparities in ALL incidence and outcomes in children of Latin American origin, which will be required for future precision prevention efforts.

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Section: Genetic Variation and All Risk In Children In Latin Americamentioning

confidence: 80%

The genetic risk of acute lymphoblastic leukemia and its implications for children of Latin American origin

de Smith,

Jiménez-Morales,

Mejía-Aranguré

2024

Front. Oncol.

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“…Cytogenetic data defining the gene fusions of five ALL subtypes—BCR-ABL, ETV6-RUNX1, MLL-AF4, SIL-TAL, and TCF3-PBX1—were obtained for 99 of the B-cell ALL patients included in the study, with the analyses being conducted by RT-PCR, as described by Reference [ 23 ].…”

Section: Methodsmentioning

confidence: 99%

Association between the TPMT*3C (rs1142345) Polymorphism and the Risk of Death in the Treatment of Acute Lymphoblastic Leukemia in Children from the Brazilian Amazon Region

Carvalho

Leitão

Mello

et al. 2020

Genes

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Acute lymphoblastic leukemia (ALL) is the leading cause of death from pediatric cancer worldwide. However, marked ethnic disparities are found in the treatment of childhood ALL with less effective results and higher mortality rates being obtained in populations with a high level of Native American ancestry. Genetic variations of the patient can affect resistance to ALL chemotherapy and potentially play an important role in this disparity. In the present study, we investigated the association of 16 genetic polymorphisms with the cell and metabolic pathways of the chemotherapeutic agents used in the treatment of ALL with the risk of death in treating childhood ALL in patients with a high contribution of Amerindian ancestry, coming from the Brazilian Amazon. The study included 121 patients with B-cell ALL treated with the BFM-2002 protocol. We are the first to identify the association between the TPMT gene rs1142345 polymorphism and the high risk of death in treating childhood ALL. Patients with the CC genotype had an approximately 25.5 times higher risk of dying during treatment of the disease than patients with other genotypes (p = 0.019). These results may help elucidate how the patient’s genetic characteristics contribute to the mortality disparity in populations with a high contribution of Native American ancestry. The rs1142345 variant of the TPMT gene could be used as a potential marker to early stratify patients at high risk of death in treating childhood ALL in the investigated population.

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“…Genome-wide association studies (GWASs), indicate several genetic variations in different genes involved in critical pathways that responsible for diseases onset, mortality, and survival rate (4). Genetic polymorphisms of folate metabolism enzymes such as Methionine synthase reductase (MTRR), and 5,10-methylenetetrahydrofolate reductase (MTHFR) could result in altered folate level (5,6). Furthermore, Methionine synthase (MTR), an enzyme-dependent on vitamin B12, plays a significant role in the folatemethylation cycle.…”

Section: Introductionmentioning

confidence: 99%

Gene-Gene Interaction Study Between Genetic Polymorphisms of Folate Metabolism and MTR SNPs on Prognostic Features Impact for Breast Cancer

et al. 2022

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Background: Breast Cancer (BC), the second leading cause of cancer mortality after lung cancer and varied across the world due to genetic and environmental factors. In this study, we evaluated the interaction between the polymorphisms in genes encoding enzymes of folate metabolism: methylenetetrahydrofolate reductase (MTHFR), methionine synthesis reductase (MTR) with the BC prognostic factors. Methods: This study was conducted on 160 Egyptian subjects, 60 controls and 100 cases. Sequencing, RFLP analysis in addition to statistical analysis including Chi-squared test, haplotype analysis was used to evaluate associations with BC risk and its clinicopathological parameters. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression. Results: Strong significant association with breast cancer risk was observed for the haplotype (T-C-G) of MTHFR C677T/ MTHFR A1289C and MTRA2576G and hormonal receptor expression (ER-/PR-/HER2+), bigger and advanced tumor and metastatic lymph nodes. However, no significant difference was observed for age. Conclusions:The combination of SNPs from MTHFR and MTR genes has a more synergistically genetic effect on BC disease progression. These SNPs could be used as tumor aggressiveness markers among Egyptian females with BC and could help in saving money and time.

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Association of genes ARID5B, CEBPE and folate pathway with acute lymphoblastic leukemia in a population from the Brazilian Amazon region

Cited by 5 publications

References 35 publications

The genetic risk of acute lymphoblastic leukemia and its implications for children of Latin American origin

The genetic risk of acute lymphoblastic leukemia and its implications for children of Latin American origin

Association between the TPMT*3C (rs1142345) Polymorphism and the Risk of Death in the Treatment of Acute Lymphoblastic Leukemia in Children from the Brazilian Amazon Region

Gene-Gene Interaction Study Between Genetic Polymorphisms of Folate Metabolism and MTR SNPs on Prognostic Features Impact for Breast Cancer

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