Education, Science, Technology, Innovation and Life
Open Access
Sign In

Analysis of genes and immune cell infiltration related to the diagnosis of ulcerative colitis based on machine learning

Download as PDF

DOI: 10.23977/medsc.2023.040617 | Downloads: 8 | Views: 329

Author(s)

Yan He 1, Bao Xin 1

Affiliation(s)

1 School of Public Health, Shaanxi University of Traditional Chinese Medicine, Xianyang, Shaanxi, China

Corresponding Author

Bao Xin

ABSTRACT

At present, the diagnosis of ulcerative colitis mainly relies on endoscopic methods, and the diagnostic results are often difficult to distinguish from Crohn's disease. This study aims to mine gene expression data at the molecular level to determine the factors related to the diagnosis of ulcerative colitis. Characteristic genes and immune infiltration analysis provide new directions for the diagnosis and treatment of ulcerative colitis. We downloaded the ulcerative colitis gene expression data sets GSE38713 and GSE87466 from the GEO database as training sets for differentially expressed gene analysis. We used three machine learning methods: random forest, XGB, and LASSO regression to analyze the differentially expressed genes. The integrated analysis results determined that Characteristic genes related to the diagnosis of ulcerative colitis and validated in the GSE47908 data set. Immune infiltration analysis was performed on normal samples and ulcerative colitis samples using the CIBERSOR algorithm, and the correlation between signature genes and immune cell infiltration levels was evaluated. It was finally determined that the differential genes related to the diagnosis of ulcerative colitis are: PDZK1IP1, SERPINA1, and TRIM29, which showed good diagnostic ability (AUC>0.8) in both the training set and the validation set. Moreover, PDZK1IP1, SERPINA1, and TRIM29 are positively correlated with dendritic cell resting, monocytes, macrophages, dendritic cell activation, and regulatory T cells, and are positively correlated with T cell CD4+ memory cell activation, natural killer cells, and M1 giant cells. Phagocytes were negatively correlated. In summary, PDZK1IP1, SERPINA1, and TRIM29 may be involved in the occurrence and development of ulcerative colitis through a variety of immune cells, and can be used as diagnostic biomarkers for ulcerative colitis.

KEYWORDS

Ulcerative colitis, Machine learning, Diagnosis, Immune infiltration

CITE THIS PAPER

Yan He, Bao Xin, Analysis of genes and immune cell infiltration related to the diagnosis of ulcerative colitis based on machine learning. MEDS Clinical Medicine (2023) Vol. 4: 118-127. DOI: http://dx.doi.org/10.23977/medsc.2023.040617.

REFERENCES

[1] Ordas I, Eckmann L, Talamini M, et al. Ulcerative colitis [J]. Lancet, 2012, 380(9853): 1606-1619.
[2] Lin, S., et al. Fusobacterium nucleatum aggravates ulcerative colitis through promoting gut microbiota dysbiosis and dysmetabolism[J]. Journal of Periodontology, 2023, 94(3):405-418. 
[3] Eisenstein M. Ulcerative colitis: towards remission [J]. Nature, 2018, 563(7730): S33.
[4] Kaenkumchorn T, Wahbeh G. Ulcerative Colitis: Making the Diagnosis [J]. Gastroenterol Clin North Am, 2020, 49(4): 655-669.
[5] Kwoji, I. D., et al. ‘Multi-omics' data integration: applications in probiotics studies[J]. npj Science of Food, 2023, 7(1):25.
[6] Handelman G S, Kuan K H, Chandra R V, et al. eDoctor, Machine Learning and the Future of Medicine [J]. Journal of Internal Medicine, 2018, 284.
[7] Xiong T, Lv X S, Wu G J, et al. Single-Cell Sequencing Analysis and Multiple Machine Learning Methods Identified G0S2 and HPSE as Novel Biomarkers for Abdominal Aortic Aneurysm [J]. Front Immunol, 2022, 13: 907309.
[8] Chen T, Guestrin C. XGBoost: A Scalable Tree Boosting System; proceedings of the Knowledge Discovery and Data Mining, F, 2016 [C].
[9] Ghosh D, Cabrera J. Enriched Random Forest for High Dimensional Genomic Data [J]. IEEE/ACM Trans Comput Biol Bioinform, 2022, 19(5): 2817-2828.
[10] Dai P, Chang W, Xin Z, et al. Retrospective Study on the Influencing Factors and Prediction of Hospitalization Expenses for Chronic Renal Failure in China Based on Random Forest and LASSO Regression [J]. Frontiers in Public Health, 2021, 9: 748-759.
[11] Sun Y, Zhang Z, Zheng C Q, et al. Mucosal lesions of the upper gastrointestinal tract in patients with ulcerative colitis: A review [J]. World J Gastroenterol, 2021, 27(22): 2963-2978.
[12] Sato, Y., et al. Inflammatory Bowel Disease and Colorectal Cancer: Epidemiology, Etiology, Surveillance, and Management[J]. Cancers, 2023, 15(16):4154.
[13] Yao D, Dong M, Dai C, et al. Inflammation and Inflammatory Cytokine Contribute to the Initiation and Development of Ulcerative Colitis and Its Associated Cancer [J]. Inflamm Bowel Dis, 2019, 25(10): 1595-1602.
[14] Jiang T, Wang H, Liu L, et al. CircIL4R activates the PI3K/AKT signaling pathway via the miR-761/TRIM29/PHLPP1 axis and promotes proliferation and metastasis in colorectal cancer [J]. Mol Cancer, 2021, 20(1): 167.
[15] Garcia-Heredia J M, Carnero A. Dr. Jekyll and Mr. Hyde: MAP17's up-regulation, a crosspoint in cancer and inflammatory diseases [J]. Mol Cancer, 2018, 17(1): 80.
[16] Zhang W, Zheng D, Jin L, et al. PDZK1IP1 gene promotes proliferation, migration, and invasion in papillary thyroid carcinoma [J]. Pathol Res Pract, 2022, 238: 154091.
[17] Bjerrum J T, Nyberg C, Olsen J, et al. Assessment of the validity of a multigene analysis in the diagnostics of inflammatory bowel disease [J]. J Intern Med, 2014, 275(5): 484-493.
[18] Sangeetha T, Nargis Begum T, Balamuralikrishnan B, et al. Influence of SERPINA1 Gene Polymorphisms on Anemia and Chronic Obstructive Pulmonary Disease [J]. J Renin Angiotensin Aldosterone Syst, 2022, 2022: 2238320.
[19] Qiu P, Liu L, Fang J, et al. Identification of Pharmacological Autophagy Regulators of Active Ulcerative Colitis [J]. Front Pharmacol, 2021, 12: 769718.
[20] Liang C, Dong H, Miao C, et al. TRIM29 as a prognostic predictor for multiple human malignant neoplasms: a systematic review and meta-analysis [J]. Oncotarget, 2018, 9(15): 12323-12332.
[21] Porter R J, Kalla R, Ho G T. Ulcerative colitis: Recent advances in the understanding of disease pathogenesis [J]. F1000Res, 2020, 9.

Downloads: 4703
Visits: 205215

Sponsors, Associates, and Links


All published work is licensed under a Creative Commons Attribution 4.0 International License.

Copyright © 2016 - 2031 Clausius Scientific Press Inc. All Rights Reserved.