Exploring the impact of PNPLA3 expression on metabolic related fatty liver disease based on bioinformatics analysis

Abstract

Abstract: Objective To Explore the expression and functional enrichment of PNPLA3 in metabolic related fatty liver disease (MAFLD) through bioinformatics analysis. Methods A slow virus transfection model for PNPLA3 over-expression in MAFLD cells was established. The differentially expressed genes were screened from PNPLA3 over-expressed cells. Enrichment analysis was performed to determine the biological significance of these genes. Differential expression analysis was performed to determine the pathways involved in different expression levels of PNPLA3 and its relationship with MAFLD. Results The alignment rates of genomic sequence alignment ranging from 97.27% to 97.96%; A total of 32 788 expressed genes were detected through analysis; A total of 158 930 transcripts were expressed; Compared with the model control group, the PNPLA3 overexpression group had 2 748 differentially expressed genes, including 1 264 upregulated genes and 1 484 downregulated genes. The differentially expressed genes in The PNPLA3 overexpression group mainly includes genes that were involved in cellular processes, biological regulation, metabolic processes, cellular component organization or biogenesis, and response to stimuli in biological processes. In molecular functions, there were mainly binding, catalytic activity, transcriptional regulatory activity, and molecular function regulators. The enrichment analysis of KEGG pathway showed that the pathways of PNPLA3 overexpression group included stem cell pluripotency regulation signaling pathway, ECM receptor interaction, IL-17 signaling pathway, chemical carcinogenesis, reactive oxygen species, human papillomavirus infection, lipid and atherosclerosis. Conclusion The expression level PNPLA3 is upregulated, and associated with the occurrence and development of MAFLD. This protein participates in reactions including biological regulation and metabolic processes.

Key words: Bioinformatics, MAFLD, PNPLA3, Gene expression, GO/KEGG analysis, Biomarker

HE Xiao-xuan, MA Xue-er, YANG Xue-xia, LI Qin, ZHU Kai, CAI Wen. Exploring the impact of PNPLA3 expression on metabolic related fatty liver disease based on bioinformatics analysis[J]. Chinese Hepatolgy, 2025, 30(9): 1195-1199.

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