دورية أكاديمية
A genomic and bioinformatic-based approach to identify genetic variants for liver cancer across multiple continents.
| العنوان: | A genomic and bioinformatic-based approach to identify genetic variants for liver cancer across multiple continents. |
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| المؤلفون: | 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.; Pharmacy Study Program, Faculty of Science and Mathematics, Udayana University, Bali, Indonesia., Khairi S; School of Nursing, College of Nursing, Taipei Medical University, Taipei 11031, Taiwan., Purwanto BD; Faculty of Medicine, Universitas Ahmad Dahlan, Yogyakarta 55191, Indonesia.; PKU Muhammadiyah Bantul Hospital, Bantul, Yogyakarta 55711, Indonesia., Chong R; Department of Chemistry and Biochemistry, University of California, Los Angeles, Los Angeles, CA 90095, USA., Mazaya M; Research Center for Computing, Research Organization for Electronics and Informatics, National Research and Innovation Agency (BRIN), Cibinong Science Center, Cibinong 16911, Indonesia., Siswanto LMH; Mataram Training Health Center, Indonesia Ministry of Health, Mataram 83237, Indonesia. |
| المصدر: | Genomics & informatics [Genomics Inform] 2023 Dec; Vol. 21 (4), pp. e48. Date of Electronic Publication: 2023 Dec 29. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Korea Genome Organization Country of Publication: Korea (South) NLM ID: 101223836 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1598-866X (Print) Linking ISSN: 1598866X NLM ISO Abbreviation: Genomics Inform Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: Seoul : Korea Genome Organization |
| مستخلص: | 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. |
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| فهرسة مساهمة: | Keywords: PNPLA3; bioinformatics; genomic variants; liver cancer; rs2294915; rs2896019 |
| تواريخ الأحداث: | Date Created: 20240115 Latest Revision: 20240117 |
| رمز التحديث: | 20240117 |
| مُعرف محوري في PubMed: | PMC10788354 |
| DOI: | 10.5808/gi.23067 |
| PMID: | 38224715 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1598-866X |
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| DOI: | 10.5808/gi.23067 |