ASSOCIATION OF INDEL POLYMORPHISMS IN PIRNA CODING REGIONS WITH SUSCEPTIBILITY TO ACUTE LYMPHOBLASTIC LEUKEMIA

  • Author
  • Jhully Azevedo dos Santos Pinheiro
  • Co-authors
  • Fabiano Cordeiro Moreira , Caio Silva , Catarine Mendes Santos , Georgia Maria de Holanda Miranda , Camila Esdra Batista Chaves , Maria Eduarda da Silva Pereira , Camille Sena dos Santos , Ândrea Ribeiro-dos-Santos , Sidney Emanuel Batista dos Santos
  • Abstract
  • Introduction: Acute Lymphoblastic Leukemia (ALL) is one of the leading main causes of cancer-related death in children. The pathogenesis of ALL can be based on the complex interactions among environmental factors, genetic alterations such as Insertion-Deletion polymorphisms  (INDEL), and epigenetic alterations, including the dysregulation of non-coding RNAs (ncRNAs). Investigations have demonstrated that the expression of PIWI-interacting RNA (piRNAs) is deregulated in cancerous tissues. However, the understanding of the impact of variants in piRNA regions and their relationship with the development of ALL is still limited. Objectives: This work aimed to investigate the allelic and genotypic distribution of three INDEL variants in piRNAs coding regions: rs10651123 (in pseudogene YWHAEP7, encoding piR-hsa-20788), rs59379238 in the intron of the CYP19A1 gene, encoding the piR-hsa-1856) and rs5856040 (in pseudogene AC093664.1, encoding piR-hsa-8395), and the influence of this variability on the development of LLA, in a case-control study, developed with a population of the Brazilian Amazon. Methods: This study was approved by the Research Ethics Committee of the Oncology Research Center, number 37386214.3.0000.5634 and 11433019.5.0000.5634. We collected the blood for DNA extraction from 192 GC patients from the Hospital Universitário João de Barros Barreto and 171 unrelated healthy individuals. The polymorphisms were amplified by PCR multiplex and genotyped in ABI PRISM 3130, and the data were analyzed in the software GeneMapper, followed by statistics analyses performed through the software R v 3.1. We verified whether the genotypic distribution of the variants was in Hardy-Weinberg Equilibrium (HWE) using the chi-squared test corrected by Bonferroni method, and the association between the markers and the susceptibility to GC was assessed by the logistic regression for dominant model. P-value ? 0.05 were considered statistically significant. Results: In our analyses, we verified that genotypic distribution of all markers were according to HWE, with exception of the rs5856040 variant in both case and control groups. This imbalance appears to be due to the increase in heterozygotes in this population (p < 0.05). We did not observe significant associations between the investigated variants and the susceptibility to ALL: rs10651123 (DD vs others, P = 0.845; OR = 1.056; 95%CI = 0.607- 1.838), (II vs others, P = 0.427; OR = 0.938; 95%CI = 0.801-1.098); rs5856040 (DD vs others, P = 0.121; OR = 0.912; 95%CI = 0.812-1.024), (II vs others, P = 0.097; OR = 1.140; 95%CI = 0.976-1.331); and rs59379238 (DD vs others, P = 0.711; OR = 0.976; 95%CI = 0.859-1.108), (II vs others, P = 0.441; OR = 0.886; 95%CI = 0.652-1.204). Conclusion: In the association analysis, no statistically significant association was observed between the variants and susceptibility to ALL. Nevertheless, this was the first study to analyze INDELs in regions encoding piRNAs and its association with ALL, and the discussion raised here contributes to the understanding of the variants present in piRNAs regions and to future studies that evaluate their impact in the development of cancer.

  • Keywords
  • INDEL; piRNA; acute lymphoblastic leukemia.
  • Modality
  • Pôster
  • Subject Area
  • Molecular Studies
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It is with great enthusiasm that we present the Annals of the Oncology International Symposium 2025, an event that continues to solidify its significance in the oncology landscape of northern Brazil. Held in Belém, Pará, Oncology 2025 centered around the theme "The cancer control challenge: better knowing it to best facing it," dedicating itself to exploring the latest frontiers in cancer treatment and prevention.

This year, the symposium provided a deep dive into the essential role of knowledge in the fight against cancer, presenting new perspectives and scientific advancements across various areas of oncology. Renowned global experts gathered to share their most recent research and innovative approaches, offering participants a comprehensive view of the challenges faced by healthcare professionals and patients worldwide.

Presentations and discussions during the event focused on critical topics such as the use of new technologies, advancements in personalized therapies, and more effective prevention strategies. Additionally, particular attention was given to the unique challenges faced by the Amazon region, with efforts aimed at developing region-specific solutions to meet local needs.

Beyond being a high-caliber academic event, Oncology 2025 stood out as a moment for integration and professional networking, with the warm hospitality of the city of Belém offering participants a unique experience. This event became a platform for exchanging ideas, where science, culture, and humanity came together in pursuit of a common goal: to improve cancer control both in Brazil and globally.

This collection of abstracts and articles presented during the event reflects the ongoing dedication to research and the development of innovative solutions, highlighting the importance of collaboration and shared knowledge in the fight against cancer.

General Submission Guidelines:

The presenting author, who does not have to be the first author, must be registered for Oncology 2025.
Each abstract may have up to 10 authors, including the main author and co-authors.
Only original, unpublished work will be accepted.
Submissions must be related to oncology. However, project descriptions, work proposals, experience reports, and literature reviews will not be considered.
Clinical case reports are allowed, provided the abstract addresses scientific questions, details clinical observations, and includes primary scientific data.
The abstract must be written in English, but presentations may be given in Portuguese.
Abstracts must be between 300 and 500 words.

  • Molecular Studies
  • Experimental Research or Clinical Research
  • Case Report or Epidemiology
  • Others

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See Annals of Oncology 2023 at:

https://www.even3.com.br/anais/oncology-2023-international-symposium/