Exploration of pathogenic genes of cataracts based on protein-protein interac-tion networks
10.13389/j.cnki.rao.2024.0150
- VernacularTitle:基于蛋白互作网络的白内障致病基因挖掘
- Author:
Zhuoyan YANG
1
;
Xin ZHANG
;
Xuejuan DUAN
;
Ruihua JING
Author Information
1. 710004 陕西省西安市,西安交通大学第二附属医院眼科
- Keywords:
cataract;
International Mouse Phenotyping Consortium;
Mouse Genome Informatics;
Cat-Map;
single nu-cleotide polymorphism
- From:
Recent Advances in Ophthalmology
2024;44(10):790-795
- CountryChina
- Language:Chinese
-
Abstract:
Objective To screen self-assessed differentially expressed genes of cataracts and cataract-related genes from the International Mouse Phenotyping Consortium(IMPC),Mouse Genome Informatics(MGI),Cat-Map and GWAS Catalog and perform bioinformatics analysis,exploring potential pathogenic genes and signaling pathways in cataract patho-genesis.Methods The transparent anterior lens capsules of cataract patients and personnel in the control group were collected,total ribonucleic acid(RNA)was extracted,the library was constructed for sequencing,and differentially ex-pressed genes were analyzed.Data about the cataract phenotype-related genes was downloaded from IMPC,MGI and GWAS Catalog,the latest data from Cat-Map was downloaded,cataract susceptible gene annotation was performed,the characteristics of data from each database and the differentially expressed genes were analyzed,and Gene Ontology enrich-ment analysis,Kyoto Encyclopedia of Genes and Genomes enrichment analysis and protein-protein interaction(PPI)net-work analysis were carried out.Results Cataract susceptible single nucleotide polymorphism(SNP)annotation found a total of 21 potential target genes.IMPC,MGI,Cat-Map,and SNP target genes were enriched in the regulation of RNA poly-merase promoters,protein binding,cell division,peroxisome,and cell metabolism.The PPI network of core proteins fo-cused on the peroxisome family and function-related genes.The differentially expressed genes obtained from sequencing da-ta of transparent anterior lens capsules of cataract patients and personnel in the control group were enriched in mitogen-ac-tivated protein kinase(MAPK)signaling pathway,signal transduction,ion transport,metabolism,peroxisome,and cell adhesion pathways.Compared with the sequencing differentially expressed data of cataract patients,the differentially ex-pressed genes obtained from IMPC,MGI,Cat-Map,and SNP target gene sets were enriched in intracellular signal transduc-tion,MAPK signaling pathway,circadian rhythm,cyclic adenosine monophosphate,and calcium pathway.TRIM22,OAS3,EPSTI1,ZC3HAV1,SP110 and PARP12 protein networks of cataracts were identified based on the PPI networks.Conclu-sion The pathways and biological functions involved in the PPI networks of TRIM22,OAS3,EPSTI1,ZC3HAV1,SP110 and PARP12 may be a new pathogenic mechanism for cataracts.
