Autoimmunity-associated intronic SNP (rs2281808) detected by a simple phenotypic assay: Unique case or broader opportunity?

Autor: Sinha S; Departments of Pathology, University of Iowa Health Care, Iowa City, IA 52242, United States., Renavikar PS; Departments of Pathology, University of Iowa Health Care, Iowa City, IA 52242, United States., Crawford MP; Departments of Pathology, University of Iowa Health Care, Iowa City, IA 52242, United States., Rodgers JW; Departments of Pathology, University of Iowa Health Care, Iowa City, IA 52242, United States., Tsalikian E; Departments of Pediatrics, University of Iowa Health Care, Iowa City, IA 52242, United States., Tansey M; Departments of Pediatrics, University of Iowa Health Care, Iowa City, IA 52242, United States., Karandikar NJ; Departments of Pathology, University of Iowa Health Care, Iowa City, IA 52242, United States. Electronic address: nitin-karandikar@uiowa.edu.
Jazyk: angličtina
Zdroj: Clinical immunology (Orlando, Fla.) [Clin Immunol] 2019 Jan; Vol. 198, pp. 57-61. Date of Electronic Publication: 2018 Dec 21.
DOI: 10.1016/j.clim.2018.12.018
Abstrakt: Multiple genome-wide association studies have shown that the single-nucleotide polymorphism (SNP) rs2281808 TT variant, present within the signal regulatory protein gamma (SIRPG) gene, is associated with autoimmune diseases, such as type 1 diabetes. SIRPγ is the only SIRP expressed on T cells. The role of SIRPγ in human T-cells or the effect of the TT variant are poorly understood. In this short report, we demonstrate the rather unusual finding that this intronic SNP is associated with a reduction of SIRPγ expression on T cells, both in healthy subjects as well as patients with type 1 diabetes. Using this information, we propose that a simple flow cytometric detection of SIRPγ could be a potential diagnostic testing approach for the presence of SNP in the appropriate clinical context.
(Copyright © 2018 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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