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

Sushmita Sinha; Pranav S Renavikar; Michael P Crawford; Jake W Rodgers; Eva Tsalikian; Michael Tansey; Nitin J Karandikar

doi:10.1016/j.clim.2018.12.018

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

Journal article

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Peer reviewed

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

Sushmita Sinha, Pranav S Renavikar, Michael P Crawford, Jake W Rodgers, Eva Tsalikian, Michael Tansey and Nitin J Karandikar

Clinical immunology (Orlando, Fla.), Vol.198, pp.57-61

01/2019

DOI: 10.1016/j.clim.2018.12.018

PMCID: PMC6361684

PMID: 30579937

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Abstract

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.

Autoimmunity

Flow cytometry

Diagnostic

SNP rs2281808

SIRPγ

Details

Title: Subtitle: Autoimmunity-associated intronic SNP (rs2281808) detected by a simple phenotypic assay: Unique case or broader opportunity?
Creators: Sushmita Sinha - Departments of Pathology, University of Iowa Health Care, Iowa City, IA 52242, United States
Pranav S Renavikar - Departments of Pathology, University of Iowa Health Care, Iowa City, IA 52242, United States
Michael P Crawford - Departments of Pathology, University of Iowa Health Care, Iowa City, IA 52242, United States
Jake W Rodgers - Departments of Pathology, University of Iowa Health Care, Iowa City, IA 52242, United States
Eva Tsalikian - Departments of Pediatrics, University of Iowa Health Care, Iowa City, IA 52242, United States
Michael Tansey - Departments of Pediatrics, University of Iowa Health Care, Iowa City, IA 52242, United States
Nitin J Karandikar - Departments of Pathology, University of Iowa Health Care, Iowa City, IA 52242, United States
Resource Type: Journal article
Publication Details: Clinical immunology (Orlando, Fla.), Vol.198, pp.57-61
DOI: 10.1016/j.clim.2018.12.018
PMID: 30579937
PMCID: PMC6361684
NLM abbreviation: Clin Immunol
ISSN: 1521-6616
eISSN: 1521-7035
Publisher: Elsevier Inc
Grant note: DOI: 10.13039/100000002, name: National Institutes of Health, award: R01AI092106; DOI: 10.13039/100000890, name: National Multiple Sclerosis Society
Language: English
Date published: 01/2019
Academic Unit: Endocrinology and Diabetes; Stead Family Department of Pediatrics; Pathology; Fraternal Order of Eagles Diabetes Research Center
Record Identifier: 9984093233602771

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