Bioinformatics analysis of key candidate genes and pathways in Chinese patients with keratoconus.

Autor: Ren S; Henan Provincial People's Hospital, Henan Eye Hospital, Henan Eye Institute, People's Hospital of Zhengzhou University, Zhengzhou, 450003, China; Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Henan Eye Hospital, Henan Eye Institution, Zhengzhou, 450003, China., Yang K; Henan Provincial People's Hospital, Henan Eye Hospital, Henan Eye Institute, People's Hospital of Zhengzhou University, Zhengzhou, 450003, China., Fan Q; Henan Provincial People's Hospital, Henan Eye Hospital, Henan Eye Institute, People's Hospital of Zhengzhou University, Zhengzhou, 450003, China., Wang Q; Henan University People's Hospital, Henan Provincial People's Hospital, Henan Eye Hospital, Henan Eye Institute, Zhengzhou, 450003, China., Zhu M; Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Henan Eye Hospital, Henan Eye Institution, Zhengzhou, 450003, China., Yin S; Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Henan Eye Hospital, Henan Eye Institution, Zhengzhou, 450003, China., Gu Y; Henan Provincial People's Hospital, Henan Eye Hospital, Henan Eye Institute, People's Hospital of Zhengzhou University, Zhengzhou, 450003, China., Xu L; Henan Provincial People's Hospital, Henan Eye Hospital, Henan Eye Institute, People's Hospital of Zhengzhou University, Zhengzhou, 450003, China. Electronic address: xuliyan@zzu.edu.cn.
Jazyk: angličtina
Zdroj: Experimental eye research [Exp Eye Res] 2023 Jun; Vol. 231, pp. 109488. Date of Electronic Publication: 2023 Apr 26.
DOI: 10.1016/j.exer.2023.109488
Abstrakt: Keratoconus (KC) is a multifactorial disease in which genetic factors played important roles in its pathogenesis. The purpose of the current study was to identify the key candidate genes and pathways in Chinese patients with KC through bioinformatics analysis. Totally, we identified 71 candidate genes by analyzing the results of whole exome sequencing on 51 Chinese patients with KC, combining with previous reports on differential expression at transcription and protein levels in KC. Gene enrichment analysis with GeneCodis demonstrated that two significantly enriched terms including 21 genes in biological process (BP) were detected, and six significantly enriched terms containing 14 genes in Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway were discovered. The STRING was utilized to construct the protein-protein interaction (PPI) network of identified genes. The result showed that a PPI network consisted of 14 nodes with 14 edges was constructed, and two gene modules were obtained. Eight hub genes (LAMB3, LAMA3, LAMA1, ITGA6, ITGA3, COL6A3, COL6A2, and COL6A1) were identified as key candidate genes for KC by cytoHubba in Cytoscape. Functional enrichment analysis with ClueGO and CluePedia indicated that the ECM-receptor interaction was the key pathway accounted for KC. The findings might provide novel insights on the genetic basis of KC.
Competing Interests: Declaration of competing interest None.
(Copyright © 2023 Elsevier Ltd. All rights reserved.)
Databáze: MEDLINE
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