Lack of association between IL27 gene variants and type 1 diabetes susceptibility

Author(s)

Santos, Aritania S. ^[1] ; Melo, Maria E. ^[1] ; Crisostomo, Lindiane C. ^[1] ; Fukui, Rosa T. ^[1] ; Matioli, Sergio R. ^[2] ; Silva, Maria Elizabeth R. ^[1]

Affiliation

^[1] Univ Sao Paulo, Lab Carboidratos & Radioimunoensaios LIM 18, Fac Med, BR-01246903 Sao Paulo - Brazil

^[2] Univ Sao Paulo, Dept Genet & Biol Evolutiva, Inst Biociencias, BR-01246903 Sao Paulo - Brazil

• Document type: Journal article
• Source: CYTOKINE; v. 61, n. 2, p. 349-352, FEB 2013.
• Web of Science Citations: 13

Abstract

Background: Recently, a new subpopulation of T cells, the Th17 subset, has been implicated in autoimmune diseases. Its development is influenced by IL-27, expressed in macrophages or dendritic cells. IL-27 blockage delays the onset of diabetes in non obese diabetes mouse, but its role in type 1 diabetes (T1D) in human has not been reported yet. The aim of this study was identify variants in the entire coding regions of IL-27 gene, including the 5' proximal region, and their possible association with the disease. Methods: Those regions were amplified by polymerase chain reaction followed by automatic sequencing and restriction fragments length polymorphisms. The cohort involved 614 individuals - 318 patients with T1D (19.6 +/- 11.2 y, 129 M/189F) and 296 healthy control subjects (30.3 +/- 13.2 y, 131 M/165F). Results: We identified eight allelic variants in the 5' proximal and coding regions of IL-27 gene, including two new variants: the c.-324 C > T in the 5' proximal region and the c.521 G > C in exon 5. None of these variants compromised transcription factor binding sites or the protein structure. The frequency of the alleles and genotypes of IL-27 variants did not differ between T1D patients and controls. There was no association between IL27 variants with gender, ethnicity, age at diagnosis of diabetes or presence of pancreatic and extrapancreatic autoantibodies. Conclusion: Our findings suggest that allelic variants in IL27 are not associated with susceptibility to T1D in a Brazilian population. (C) 2012 Elsevier Ltd. All rights reserved. (AU)

• FAPESP's process: 08/04472-6 - Presence of mutations and / or polymorphisms in genes of route T Helper 17 (interleukins (IL) IL-17A, IL-23 and IL-27) and CD226 in autoimmune diabetes patients
• Grantee: Maria Elizabeth Rossi da Silva
• Support Opportunities: Regular Research Grants