Your browser doesn't support javascript.
loading
A genomic and bioinformatic-based approach to identify genetic variants for liver cancer across multiple continents.
Ma'ruf, Muhammad; Irham, Lalu Muhammad; Adikusuma, Wirawan; Sarasmita, Made Ary; Khairi, Sabiah; Purwanto, Barkah Djaka; Chong, Rockie; Mazaya, Maulida; Siswanto, Lalu Muhammad Harmain.
Afiliación
  • Ma'ruf M; Faculty of Pharmacy, Universitas Ahmad Dahlan, Yogyakarta 55164, Indonesia.
  • Irham LM; Faculty of Pharmacy, Universitas Ahmad Dahlan, Yogyakarta 55164, Indonesia.
  • Adikusuma W; Departement of Pharmacy, University of Muhammadiyah Mataram, Mataram 83127, Indonesia.
  • Sarasmita MA; Department of Clinical Pharmacy, College of Pharmacy, Taipei Medical University, Taipei 110, Taiwan.
  • Khairi S; Pharmacy Study Program, Faculty of Science and Mathematics, Udayana University, Bali, Indonesia.
  • Purwanto BD; School of Nursing, College of Nursing, Taipei Medical University, Taipei 11031, Taiwan.
  • Chong R; Faculty of Medicine, Universitas Ahmad Dahlan, Yogyakarta 55191, Indonesia.
  • Mazaya M; PKU Muhammadiyah Bantul Hospital, Bantul, Yogyakarta 55711, Indonesia.
  • Siswanto LMH; Department of Chemistry and Biochemistry, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Genomics Inform ; 21(4): e48, 2023 Dec.
Article en En | MEDLINE | ID: mdl-38224715
ABSTRACT
Liver cancer is the fourth leading cause of death worldwide. Well-known risk factors include hepatitis B virus and hepatitis C virus, along with exposure to aflatoxins, excessive alcohol consumption, obesity, and type 2 diabetes. Genomic variants play a crucial role in mediating the associations between these risk factors and liver cancer. However, the specific variants involved in this process remain under-explored. This study utilized a bioinformatics approach to identify genetic variants associated with liver cancer from various continents. Single-nucleotide polymorphisms associated with liver cancer were retrieved from the genome-wide association studies catalog. Prioritization was then performed using functional annotation with HaploReg v4.1 and the Ensembl database. The prevalence and allele frequencies of each variant were evaluated using Pearson correlation coefficients. Two variants, rs2294915 and rs2896019, encoded by the PNPLA3 gene, were found to be highly expressed in the liver tissue, as well as in the skin, cell-cultured fibroblasts, and adipose-subcutaneous tissue, all of which contribute to the risk of liver cancer. We further found that these two SNPs (rs2294915 and rs2896019) were positively correlated with the prevalence rate. Positive associations with the prevalence rate were more frequent in East Asian and African populations. We highlight the utility of this population-specific PNPLA3 genetic variant for genetic association studies and for the early prognosis and treatment of liver cancer. This study highlights the potential of integrating genomic databases with bioinformatic analysis to identify genetic variations involved in the pathogenesis of liver cancer. The genetic variants investigated in this study are likely to predispose to liver cancer and could affect its progression and aggressiveness. We recommend future research prioritizing the validation of these variations in clinical settings.
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Genomics Inform Año: 2023 Tipo del documento: Article País de afiliación: Indonesia Pais de publicación:
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Genomics Inform Año: 2023 Tipo del documento: Article País de afiliación: Indonesia Pais de publicación: