X-Meeting presentations

PUBLIC GWAS DATA UNVEIL POTENTIAL CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA-ASSOCIATED POLYMORPHISMS IN LNCRNA REGIONS FOR FUNCTIONAL STUDIES IN BRAZILIAN POPULATIONS

Published in 08/11/2023 - ISBN: 978-65-272-0061-1

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Paper Title
PUBLIC GWAS DATA UNVEIL POTENTIAL CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA-ASSOCIATED POLYMORPHISMS IN LNCRNA REGIONS FOR FUNCTIONAL STUDIES IN BRAZILIAN POPULATIONS
Authors
  • Marco Antonio Campanário
  • Ana Laura Bernhard Beal
  • Wesley Rodrigues Zabot
  • Carlos Gabriel Alves de Lima
  • Letícia Pontamianos
  • MARA ALBONEI DUDEQUE PIANOVSKI
  • Daniela F. Gradia
  • Carolina Mathias
  • Jaqueline Carvalho de Oliveira
Modality
Poster
Subject area
DNA and Genomics
Publishing Date
08/11/2023
Country of Publishing
Brazil | Brasil
Language of Publishing
en-US
Paper Page
https://www.even3.com.br/anais/xmeeting2023/643101-public-gwas-data-unveil-potential-childhood-acute-lymphoblastic-leukemia-associated-polymorphisms-in-lncrna-regio
ISBN
978-65-272-0061-1
Keywords
lncRNA, SNP, GWAS, ALL, polymorphism
Summary
Acute lymphoblastic leukemia (ALL) is the most common childhood’s cancer type,and is comprised of multiple subtypes with distinct genetic alterations and patient outcomes. While the genetic basis of ALL susceptibility has been supported by several studies, including genome-wide association studies (GWAS), most studies have focused on the coding portion of the human genome, leaving the analysis of non-coding regions, including long non-coding RNAs (lncRNAs), underexplored. LncRNAs have important regulatory roles in cancer and are closely related to several tumor development hallmarks,, such as genomic instability and proliferative signaling sustaining. Because of that, these molecules represent novel candidates for diagnostic and prognosis biomarkers. Genetic polymorphisms in lncRNA regions have been associated with susceptibility and protection in cancer types, but studies focused on the association of single-nucleotide polymorphisms (SNPs) with lncRNAs in ALL are lacking, mainly in underrepresented populations. To investigate lncRNA-SNPs associated with pediatric ALL risk, we conducted a GWAS data mining analysis using GWAS Catalog database (https://www.ebi.ac.uk/gwas/), selecting potential SNPs candidates for functional studies in a Brazilian cohort from Erastinho Oncopediatric Hospital (Curitiba, Paraná). We found 12 potential ALL-associated SNPs (rs7156960, rs630662, rs10018622, rs11978267, rs11155133, rs7738636, rs75777619, rs28665337, rs4617118, rs2069426, rs9290663, rs10170236) identified in 10 different lncRNAs regions (AC016526.2, AC025508.1, AC079921.1, AC124014.1, AL035446.1, AL355612.1, CCDC26, CDKN2B-AS1, KCNMB2-AS1, MMADHC-DT), some of which are poorly studied while others are characterized by tumor suppressor and cell cycle regulation activities based on public gene ontology (GO) data. We also designed primers for allele-specific PCRs of each candidate SNP to validate their presence in the Brazilian cohort. So far, we have 74 ALL DNA samples and allele-specific optimized PCR for the genotyping of 2 SNPs (rs9290663 and rs2069426). The results from this work may contribute to association studies and functional analysis in childhood leukemia biology, specifically in the Brazilian population.
Title of the Event
X-Meeting / BSB 2023
City of the Event
Curitiba
Title of the Proceedings of the event
X-Meeting presentations
Name of the Publisher
Even3
Means of Dissemination
Meio Digital

How to cite

CAMPANÁRIO, Marco Antonio et al.. PUBLIC GWAS DATA UNVEIL POTENTIAL CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA-ASSOCIATED POLYMORPHISMS IN LNCRNA REGIONS FOR FUNCTIONAL STUDIES IN BRAZILIAN POPULATIONS.. In: X-Meeting presentations. Anais...Curitiba(PR) Campus da indústria, 2023. Available in: https//www.even3.com.br/anais/xmeeting2023/643101-PUBLIC-GWAS-DATA-UNVEIL-POTENTIAL-CHILDHOOD-ACUTE-LYMPHOBLASTIC-LEUKEMIA-ASSOCIATED-POLYMORPHISMS-IN-LNCRNA-REGIO. Access in: 20/07/2026

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