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Transcriptome-wide analysis of differentially expressed chemokine receptors, SNPs, and SSRs in the age-related macular degeneration
Univ Missouri, MO 65212 USA; Johns Hopkins Univ, MD 21287 USA.
Univ Missouri, MO 65212 USA; Johns Hopkins Univ, MD 21287 USA.
Linköping University, Department of Clinical and Experimental Medicine, Division of Neuro and Inflammation Science. Linköping University, Faculty of Medicine and Health Sciences.
Univ Missouri, MO 65212 USA; Johns Hopkins Univ, MD 21287 USA.
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2019 (English)In: HUMAN GENOMICS, ISSN 1473-9542, Vol. 13, article id 15Article in journal (Refereed) Published
Abstract [en]

BackgroundAge-related macular degeneration (AMD) is the most common, progressive, and polygenic cause of irreversible visual impairment in the world. The molecular pathogenesis of the primary events of AMD is poorly understood. We have investigated a transcriptome-wide analysis of differential gene expression, single-nucleotide polymorphisms (SNPs), indels, and simple sequence repeats (SSRs) in datasets of the human peripheral retina and RPE-choroid-sclera control and AMD.Methods and resultsAdaptors and unbiased components were removed and checked to ensure the quality of the data sets. Molecular function, biological process, cellular component, and pathway analyses were performed on differentially expressed genes. Analysis of the gene expression datasets identified 5011 upregulated genes, 11,800 downregulated genes, 42,016 SNPs, 1141 indels, and 6668 SRRs between healthy controls and AMD donor material. Enrichment categories for gene ontology included chemokine activity, cytokine activity, cytokine receptor binding, immune system process, and signal transduction respectively. A functional pathways analysis identified that chemokine receptors bind chemokines, complement cascade genes, and create cytokine signaling in immune system pathway genes (p value amp;lt;0.001). Finally, allele-specific expression was found to be significant for Chemokine (C-C motif) ligand (CCL) 2, 3, 4, 13, 19, 21; C-C chemokine receptor (CCR) 1, 5; chemokine (C-X-C motif) ligand (CXCL) 9, 10, 16; C-X-C chemokine receptor type (CXCR) 6; as well as atypical chemokine receptor (ACKR) 3,4 and pro-platelet basic protein (PPBP).ConclusionsOur results improve our overall understanding of the chemokine receptors signaling pathway in AMD conditions, which may lead to potential new diagnostic and therapeutic targets.

Place, publisher, year, edition, pages
BMC , 2019. Vol. 13, article id 15
Keywords [en]
AMD; RNA-Seq; Gene ontology; Human eye; Chemokine receptor
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Genetics
Identifiers
URN: urn:nbn:se:liu:diva-156200DOI: 10.1186/s40246-019-0199-1ISI: 000462323600001PubMedID: 30894217OAI: oai:DiVA.org:liu-156200DiVA, id: diva2:1303237
Note

Funding Agencies|NIH [EY027824]; University of Missouri startup funds

Available from: 2019-04-09 Created: 2019-04-09 Last updated: 2019-10-21

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