Conference 2021 Pre-Recorded Video


Project title

Analysis of the Genetic Polymorphism of TGFβ1 C29T (rs 1800470) in Childhood Acute Lymphoblastic Leukemia


Authors and Affiliations

Luiz Henrique Fernandes Spolador1, Alberto Yoichi Sakaguchi1, Carlos Eduardo Coral de Oliveira 2, Bruna Karina Banin-Hirata, Glauco Akelinghton Freire Vitiello1, Caroline Yukari Motoori-Fernandes1, Sarah Lott Moretto1, Nathália de Sousa-Pereira1, Mayara Bocchi-Fernandes1, Marla Karine Amarante1, Maria Angelica Ehara Watanabe1

1. Department of Pathological Sciences, Londrina State University, Londrina, Brazil
2. Pontificial Catholic University of Paraná, Londrina, Brazil




Acute lymphoblastic leukemia (ALL) is a malignant disorder that originates from hematopoietic precursor. Genetic alterations, the imbalance between differentiation and proliferation of hematopoietic cells and molecules of immune system may contribute to the development of ALL. The TGFB signaling pathway plays a fundamental role in several cellular processes and mutations in the genes of this pathway are involved in hematological diseases. The TGFB1 gene is located on the long arm of chromosome 19 (locus 19q13.1) and the target polymorphism of the present work belongs to the signal peptide region of the TGFB1 gene (rs1800470 or C29T), in which the C allele has been associated with a greater production of TGFβ1 altering its expression or secretion dynamics.


The study was approved by the Ethics Committee for Research (CAAE 17123113400005231). Blood samples were obtained from 134 ALL pediatric patients (63 female and 71 male). For the control group, blood samples of 143 children (76 female and 67 male) without cancer or inflammatory diseases. The DNA was obtained and the genotypes were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) followed by analysis on polyacrylamide gel stained in silver nitrate.


The CT genotype showed a significant risk association in comparison with the CC genotype for general ALL (OR = 2.52; 95% CI = 1.30 – 4.75; p = 0.007). In addition, in the recessive model (TT vs CC + CT) a statistically significant protective association was found for carriers of the C allele (OR = 0.42; 95% CI = 0.25 – 0.70; p = 0.0007).


Our results suggest that the 1800470 TGFB1 polymorphism may be associated with ALL susceptibility.