PD-L1 gene polymorphisms and low serum level of PD-L1 protein are associated to type 1 diabetes in Chile

Introduction Type 1 diabetes (T1D) has a complex etiology in which genetic and environmental factors are involved, whose interactions have not yet been completely clarified. In this context, the role in PD‐1 pathway and its ligands 1 and 2 (PD‐L1 and PD‐L2) have been proposed as candidates in severa...

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Veröffentlicht in:Diabetes/metabolism research and reviews 2014-11, Vol.30 (8), p.761-766
Hauptverfasser: Pizarro, Carolina, García-Díaz, Diego F., Codner, Ethel, Salas-Pérez, Francisca, Carrasco, Elena, Pérez-Bravo, Francisco
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Sprache:eng
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Zusammenfassung:Introduction Type 1 diabetes (T1D) has a complex etiology in which genetic and environmental factors are involved, whose interactions have not yet been completely clarified. In this context, the role in PD‐1 pathway and its ligands 1 and 2 (PD‐L1 and PD‐L2) have been proposed as candidates in several autoimmune diseases. The aim of this work was to determine the allele and haplotype frequency of six gene polymorphisms of PD‐ligands (PD‐L1 and PD‐L2) in Chilean T1D patients and their effect on serum levels of PD‐L1 and autoantibody profile (GAD65 and IA2). Methods This study cohort comprised 205 T1D patients and 205 normal children. We performed genotypic analysis of PD‐L1 and PD‐L2 genes by TaqMan method. Determination of anti‐GAD65 and anti‐IA‐2 autoantibodies was performed by ELISA. The PD‐L1 serum levels were measured. Results The allelic distribution of PD‐L1 variants (rs2297137 and rs4143815) showed differences between T1D patients and controls (p = 0.035 and p = 0.022, respectively). No differences were detected among the PD‐L2 polymorphisms, and only the rs16923189 showed genetic variation. T1D patients showed decreased serum levels of PD‐L1 compared to controls: 1.42 [0.23–7.45] ng/mL versus 3.35 [0.49–5.89] ng/mL (p 
ISSN:1520-7552
1520-7560
DOI:10.1002/dmrr.2552