Autoimmunity-associated intronic SNP (rs2281808) detected by a simple phenotypic assay: Unique case or broader opportunity?
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 r...
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Published in | Clinical immunology (Orlando, Fla.) Vol. 198; pp. 57 - 61 |
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Main Authors | , , , , , , |
Format | Journal Article |
Language | English |
Published |
United States
Elsevier Inc
01.01.2019
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Subjects | |
Online Access | Get full text |
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Summary: | 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.
•This is an interesting example of a phenotypic assay of protein expression tightly correlating with an intronic SNP.•A single-nucleotide polymorphism (SNP) in the SIRPG gene (rs2281808) is known to be associated with autoimmune disease.•SNP rs2281808 can be detected by a flow cytometric assay detecting the expression of the corresponding protein on T-cells.•The expression pattern may allow such detection to be utilized as a clinical diagnostic/prognostic test for rs2281808. |
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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 S.S. and N.J.K. were involved in study design, interpretation of results, and preparation of the manuscript; S.S., P.S.R., M.P.C. and J.R. performed the experiments, M.P.C., E.T., and M.T. were involved in recruitment of subjects. All authors reviewed the manuscript and provided input in manuscript preparation and approved the final draft for submission. Author contributions statement |
ISSN: | 1521-6616 1521-7035 |
DOI: | 10.1016/j.clim.2018.12.018 |