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Abstract #80994 Published in IGR 20-3
Investigating a downstream gene of using the systems genetics method
Lu Y; Zhou D; Lu H; Xu F; Yue J; Tong J; Lu LMolecular Vision 2019; 25: 222-236
PURPOSE: Glaucoma is characterized by optic nerve damage and retinal ganglion cell loss. The glycoprotein neuromedin B-associated () gene is well-known to be involved in the glaucoma disease process. The purpose of this study is to identify a downstream gene through which affects the glaucoma phenotypes using a systems genetics approach. METHODS: Retinal gene expression data for the BXD recombinant inbred (RI) strains (n=75) have previously been generated in our laboratory for a glaucoma study, and these data were used for genetic and bioinformatics analysis. Expression quantitative trait locus (eQTL) mapping and genetic correlation methods were used to identify a gene downstream of . Gene-set enrichment analysis was used to evaluate gene function and to construct coexpression networks. RESULTS: The level of expression is associated with a highly statistically significant -eQTL. Stanniocalcin 1 () has a significant trans-eQTL mapping to the locus. The expression of and is highly correlated in the retina and other tissues, as well as with glaucoma-related phenotypes. Gene Ontology and pathway analysis showed that and its covariates are highly associated with apoptosis, oxidative stress, and mitochondrial activity. A generated gene network indicated that and are directly connected to and interact with other genes with similar biologic functions. CONCLUSIONS: These results suggest that may be a downstream candidate of , and that both genes interact with other genes in a network to develop glaucoma pathogenesis through mechanisms such as apoptosis and oxidative stress.
Department of Ophthalmology, The First Affiliated Hospital, Zhejiang University College of Medicine, Hangzhou, China.
Classification:
3.5 Molecular biology incl. SiRNA (Part of: 3 Laboratory methods)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
