: Gly307Ser (rs763361) polymorphism in () gene has been implicated in susceptibility to autoimmune diseases (ADs) with controversial results. This study aimed to conduct a meta-analysis for examining the relationship between rs763361 polymorphism and ADs risk. : a literature search was performed to identify relevant studies published in Embase, PubMed, Wanfang, and China National Knowledge Infrastructure. In the most appropriate genetic models, pooled odds ratio (OR) with 95% confidence interval (CI) was calculated for evaluating the strength of the associations. Besides standard meta-analysis, cumulative meta-analysis was also conducted to assess the trend in OR over time. Also, we performed subgroup and sensitivity analysis, and checked for the heterogeneity and publication bias. : Twenty-nine reports with 51 independent studies, comprising 18157 cases and 29904 controls, were enrolled in this meta-analysis. Among overall and various ethnic populations (Europeans, Asians, Africans, and South Americans), rs763361 polymorphism was significantly associated with ADs susceptibility; in the subgroup analysis by disease type, rs763361 polymorphism revealed significant associations with the risk of RA, SLE, T1D, and MS. The sensitivity analysis and cumulative meta-analysis confirmed the stability and robustness of these significant results. However, no evidence of stable significant association emerged in the subgroup analysis of SSc. : These findings demonstrate that rs763361 polymorphism confers susceptibility to ADs in the overall population, Europeans, Asians, Africans, and South Americans. rs763361 polymorphism in gene may be a potential susceptible predictor of ADs especially RA, SLE, T1D, and MS.
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http://dx.doi.org/10.1080/08820139.2019.1703737 | DOI Listing |
Immunol Res
August 2024
Laboratory of Clinical Immunogenetics and Pharmacogenetics, Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wroclaw, Poland.
Various lymphocyte subpopulations, including NK cells as well as γδ T cells, have been considered an important element in the pathogenesis of autoimmune, inflammatory, rheumatic diseases, such as rheumatoid arthritis (RA) and ankylosing spondylitis (AS). The aim of this study was to assess the potential role of polymorphic variations in the genes coding for three NK and γδ T cell receptors: NCR3, FCγR3A, and DNAM-1 (rs1052248, rs396991, and rs763361, respectively) in the disease susceptibility and the efficacy of treatment with TNF inhibitors. The study included 461 patients with RA, 168 patients with AS, and 235 voluntary blood donors as controls.
View Article and Find Full Text PDFInt J Mol Sci
April 2024
Department of Pediatrics, Endocrinology, Diabetology with Cardiology Divisions, Medical University of Bialystok, J. Waszyngtona 17, 15-274 Bialystok, Poland.
Mol Neurobiol
October 2024
Department of Biological Science and Technology, School of Chemistry, Chemical Engineering and Life Sciences, Wuhan University of Technology, Wuhan, 430070, China.
Previous studies have suggested that certain variants in immune-related genes may participate in the pathogenesis of multiple sclerosis (MS), including rs17824933 in the CD6 gene, rs1883832 in the CD40 gene, rs2300747 in the CD58 gene, rs763361 in the CD226 gene, rs16944 in the IL-1β gene, rs2243250 in the IL-4 gene, and rs12722489 and rs2104286 in the IL-2Rα gene. However, the results remained inconclusive and conflicting. In view of this, a comprehensive meta-analysis including all eligible studies was conducted to investigate the association between these 8 selected genetic variants and MS risk.
View Article and Find Full Text PDFDiabetes
November 2023
Department of Pathology, Immunology and Laboratory Medicine, Diabetes Institute, College of Medicine, University of Florida, Gainesville, FL.
Costimulation serves as a critical checkpoint for T-cell activation, and several genetic variants affecting costimulatory pathways confer risk for autoimmune diseases. A single nucleotide polymorphism (rs763361) in the CD226 gene encoding a costimulatory receptor increases susceptibility to multiple autoimmune diseases, including type 1 diabetes. We previously found that Cd226 knockout protected NOD mice from disease, but the impact of CD226 on individual immune subsets remained unclear.
View Article and Find Full Text PDFJ Immunol
November 2022
Department of Immunology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
Although rs763361, which causes a nonsynonymous glycine-to-serine mutation at residue 307 (G307S mutation) of the DNAX accessory molecule-1 (DNAM-1) immunoreceptor, is a single-nucleotide polymorphism associated with autoimmune disease susceptibility, little is known about how the single-nucleotide polymorphism is involved in pathogenesis. In this study, we established human CD4+ T cell transfectants stably expressing wild-type (WT) or G307S DNAM-1 and showed that the costimulatory signal from G307S DNAM-1 induced greater proinflammatory cytokine production and cell proliferation than that from wild-type DNAM-1. The G307S mutation also enhanced the recruitment of the tyrosine kinase Lck and augmented p-Tyr322 of DNAM-1.
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