Genetic assessment of ten Egyptian patients with Sjögren–Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation

Shi

et al. 2020

BMC Cancer

Background Extensive research has revealed that genes play a pivotal role in tumor development and growth. However, the underlying involvement of gene expression in gastric carcinoma (GC) remains to be investigated further. Methods In this study, we identified overlapping differentially expressed genes (DEGs) by comparing tumor tissue with adjacent normal tissue using the Gene Expression Omnibus (GEO) and the Cancer Genome Atlas (TCGA) database. Results Our analysis identified 79 up-regulated and ten down-regulated genes. Functional enrichment analysis and prognosis analysis were conducted on the identified genes, and the fatty aldehyde dehydrogenase (FALDH) gene, ALDH3A2, was chosen for more detailed analysis. We performed Gene Set Enrichment Analysis (GSEA) and immunocorrelation analysis (infiltration, copy number alterations, and checkpoints) to elucidate the mechanisms of action of ALDH3A2 in depth. The immunohistochemical (IHC) result based on 140 paraffin-embedded human GC samples indicated that ALDH3A2 was over-expressed in low-grade GC cases and the OS of patients with low expression of ALDH3A2 was significantly shorter than those with high ALDH3A2 expression. In vitro results indicated that the expression of ALDH3A2 was negatively correlated with PDCD1, PDCD1LG2, and CTLA-4. Conclusion We conclude that ALDH3A2 might be useful as a potential reference value for the relief and immunotherapy of GC, and also as an independent predictive marker for the prognosis of GC.

Section: Discussionmentioning

confidence: 99%

Identification of ALDH3A2 as a novel prognostic biomarker in gastric adenocarcinoma using integrated bioinformatics analysis

Shi

et al. 2020

BMC Cancer

“…ALDH3A2, aldehyde dehydrogenase 3 family, member A2, are thought critically important in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation, whose mutations could cause Sjogren-Larsson syndrome [30]. In light of few studies have focused on the role of ALDH3A2 in GC, to go deep into its effect, we compared the clinical feature and conducted GSEA analysis in high and low ALDH3A2 group.…”

Section: Discussionmentioning

confidence: 99%

Identification of ALDH3A2 as novel prognostic biomarker in gastric adenocarcinoma by integrated bioinformatics analysis

Wei

et al. 2020

Preprint

Extensive experiments and researches have elucidated that genes plays a pivotal role in tumorigenesis and development. Nonetheless, its latent involvement in gastric carcinoma (GC) remains to be further investigated. In this study, we identified overlapping differentially expressed genes (DEGs) by comparing the tumor tissue and adjacent normal tissue from Gene Expression Omnibus (GEO) and the Cancer Genome Atlas (TCGA) database, which included 79 up-regulated and 10 down-regulated genes. Based on these genes, functional enrichment analysis, protein-protein interaction (PPI) and prognosis analysis were conducted, and thus the gene ALDH3A2 was chosen for further analysis. Then, we performed Gene Set Enrichment Analysis (GSEA) and immunocorrelation analysis (infiltration, copy number alterations and checkpoints) to comprehend the in-deep mechanism of ALDH3A2. In a word, ALDH3A2 might have potential reference value for the relief and immunotherapy, and become an independent predictive marker for the prognosis of GC.

“…ALDH3A2 was selected for further analysis. ALDH3A2, which is in the aldehyde dehydrogenase 3 family, member A2, is critically important in the detoxi cation of aldehydes generated by alcohol metabolism and lipid peroxidation, and mutations in this gene cause Sjogren-Larsson syndrome [20]. Few studies have focused on the role of ALDH3A2 in GC.…”

Section: Discussionmentioning

confidence: 99%

Identification of ALDH3A2 as a novel prognostic biomarker in gastric adenocarcinoma using integrated bioinformatics analysis

Shi

et al. 2020

Preprint

Background: Extensive research has revealed that genes play a pivotal role in tumor development and growth. However, the underlying involvement of gene expression in gastric carcinoma (GC) remains to be investigated further. Methods: In this study, we identified overlapping differentially expressed genes (DEGs) by comparing tumor tissue with adjacent normal tissue using the Gene Expression Omnibus (GEO) and the Cancer Genome Atlas (TCGA) database. Results: Our analysis identified 79 up-regulated and ten down-regulated genes. Functional enrichment analysis and prognosis analysis were conducted on the identified genes, and the fatty aldehyde dehydrogenase (FALDH) gene, ALDH3A2, was chosen for more detailed analysis. We performed Gene Set Enrichment Analysis (GSEA) and immunocorrelation analysis (infiltration, copy number alterations, and checkpoints) to elucidate the mechanisms of action of ALDH3A2 in depth. The immunohistochemical (IHC) result based on 140 paraffin-embedded human GC samples indicated that ALDH3A2 was over-expressed in low-grade GC cases and the OS of patients with low expression of ALDH3A2 was significantly shorter than those with high ALDH3A2 expression. In vitro results indicated that the expression of ALDH3A2 was negatively correlated with PDCD1, PDCD1LG2, and CTLA-4. Conclusion: We conclude that ALDH3A2 might be useful as a potential reference value for the relief and immunotherapy of GC, and also as an independent predictive marker for the prognosis of GC.