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Updated: Jan 17, 2026

Isolation and Th17 Differentiation of Naïve CD4 T Lymphocytes
Published on: September 26, 2013
IL17RA and IL21R polymorphisms influence type 1 diabetes predisposition and autoimmune phenotypes
Cintia Semzezem1, Karla Fabiana Brasil Gomes1, Aritania Sousa Santos1
1Laboratório de Carboidratos e Radioimunoensaios (LIM-18) do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Polymorphisms in interleukin receptors IL-17RA and IL-21R influence type 1 diabetes (T1D) risk and autoantibody presence. Specific variants are linked to increased T1D susceptibility and altered autoantibody profiles in patients.
Area of Science:
- Immunology
- Genetics
- Endocrinology
Background:
- Interleukin receptors are implicated in autoimmune diseases, but their role in type 1 diabetes (T1D) is not fully understood.
- Polymorphisms in IL-17RA and IL-21R genes may influence T1D susceptibility and associated autoimmune manifestations.
Purpose of the Study:
- To investigate the impact of specific polymorphisms in the IL-17RA and IL-21R genes on T1D susceptibility.
- To evaluate the association between these genetic variants and the presence of various autoantibodies in T1D patients.
Main Methods:
- Genotyping of selected IL17RA and IL21R variants in 639 T1D patients and 653 healthy controls using the VeraCode GoldenGate assay.
- Assessment of autoantibodies, including anti-IA2, anti-parietal cell, anti-endomysium, anti-thyroperoxidase, and TSH receptor (TRAb), using radioimmunoassay, ELISA, and radiolabeled iodine receptor assay.
Main Results:
- Two IL17RA variants (rs2241049G and rs7199138C in IL21R) were associated with increased T1D susceptibility.
- Specific IL17RA variants (rs879577A, rs5748863G) were linked to protection and reduced anti-IA2 autoantibody frequency.
- IL21R and IL17RA variants showed associations with altered frequencies of anti-parietal cell, anti-endomysium, anti-thyroperoxidase, and TRAb autoantibodies.
Conclusions:
- Polymorphisms in IL17RA and IL21R genes play a role in T1D pathogenesis.
- These genetic variations can modulate the presence of both pancreatic and extra-pancreatic autoantibodies in individuals with T1D.
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