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The rs2304256 Polymorphism in TYK2 Gene Is Associated with Protection for Type 1 Diabetes Mellitus

BACKGROUND: Tyrosine kinase 2 (TYK2) is a candidate gene for type 1 diabetes mellitus (T1DM) since it plays an important role in regulating apoptotic and pro-inflammatory pathways in pancreatic β-cells through modulation of the type I interferon signaling pathway. The rs2304256 single nucleotide pol...

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Autores principales: Pellenz, Felipe Mateus, Dieter, Cristine, Duarte, Guilherme Coutinho Kullmann, Canani, Luís Henrique, de Souza, Bianca Marmontel, Crispim, Daisy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Diabetes Association 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8640150/
https://www.ncbi.nlm.nih.gov/pubmed/34225445
http://dx.doi.org/10.4093/dmj.2020.0194
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author Pellenz, Felipe Mateus
Dieter, Cristine
Duarte, Guilherme Coutinho Kullmann
Canani, Luís Henrique
de Souza, Bianca Marmontel
Crispim, Daisy
author_facet Pellenz, Felipe Mateus
Dieter, Cristine
Duarte, Guilherme Coutinho Kullmann
Canani, Luís Henrique
de Souza, Bianca Marmontel
Crispim, Daisy
author_sort Pellenz, Felipe Mateus
collection PubMed
description BACKGROUND: Tyrosine kinase 2 (TYK2) is a candidate gene for type 1 diabetes mellitus (T1DM) since it plays an important role in regulating apoptotic and pro-inflammatory pathways in pancreatic β-cells through modulation of the type I interferon signaling pathway. The rs2304256 single nucleotide polymorphism (SNP) in TYK2 gene has been associated with protection for different autoimmune diseases. However, to date, only two studies have evaluated the association between this SNP and T1DM, with discordant results. This study thus aimed to investigate the association between the TYK2 rs2304256 SNP and T1DM in a Southern Brazilian population. METHODS: This case-control study comprised 478 patients with T1DM and 518 non-diabetic subjects. The rs2304256 (C/A) SNP was genotyped by real-time polymerase chain reaction technique using TaqMan minor groove binder (MGB) probes. RESULTS: Genotype and allele frequencies of the rs2304256 SNP differed between T1DM patients and non-diabetic subjects (P<0.0001 and P=0.001, respectively). Furthermore, the A allele was associated with protection against T1DM under recessive (odds ratio [OR], 0.482; 95% confidence interval [CI], 0.288 to 0.806) and additive (OR, 0.470; 95% CI, 0.278 to 0.794) inheritance models, adjusting for human leukocyte antigen (HLA) DR/DQ genotypes, gender, and ethnicity. CONCLUSION: The A/A genotype of TYK2 rs2304256 SNP is associated with protection against T1DM in a Southern Brazilian population.
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spelling pubmed-86401502021-12-13 The rs2304256 Polymorphism in TYK2 Gene Is Associated with Protection for Type 1 Diabetes Mellitus Pellenz, Felipe Mateus Dieter, Cristine Duarte, Guilherme Coutinho Kullmann Canani, Luís Henrique de Souza, Bianca Marmontel Crispim, Daisy Diabetes Metab J Original Article BACKGROUND: Tyrosine kinase 2 (TYK2) is a candidate gene for type 1 diabetes mellitus (T1DM) since it plays an important role in regulating apoptotic and pro-inflammatory pathways in pancreatic β-cells through modulation of the type I interferon signaling pathway. The rs2304256 single nucleotide polymorphism (SNP) in TYK2 gene has been associated with protection for different autoimmune diseases. However, to date, only two studies have evaluated the association between this SNP and T1DM, with discordant results. This study thus aimed to investigate the association between the TYK2 rs2304256 SNP and T1DM in a Southern Brazilian population. METHODS: This case-control study comprised 478 patients with T1DM and 518 non-diabetic subjects. The rs2304256 (C/A) SNP was genotyped by real-time polymerase chain reaction technique using TaqMan minor groove binder (MGB) probes. RESULTS: Genotype and allele frequencies of the rs2304256 SNP differed between T1DM patients and non-diabetic subjects (P<0.0001 and P=0.001, respectively). Furthermore, the A allele was associated with protection against T1DM under recessive (odds ratio [OR], 0.482; 95% confidence interval [CI], 0.288 to 0.806) and additive (OR, 0.470; 95% CI, 0.278 to 0.794) inheritance models, adjusting for human leukocyte antigen (HLA) DR/DQ genotypes, gender, and ethnicity. CONCLUSION: The A/A genotype of TYK2 rs2304256 SNP is associated with protection against T1DM in a Southern Brazilian population. Korean Diabetes Association 2021-11 2021-05-24 /pmc/articles/PMC8640150/ /pubmed/34225445 http://dx.doi.org/10.4093/dmj.2020.0194 Text en Copyright © 2021 Korean Diabetes Association https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) ) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Pellenz, Felipe Mateus
Dieter, Cristine
Duarte, Guilherme Coutinho Kullmann
Canani, Luís Henrique
de Souza, Bianca Marmontel
Crispim, Daisy
The rs2304256 Polymorphism in TYK2 Gene Is Associated with Protection for Type 1 Diabetes Mellitus
title The rs2304256 Polymorphism in TYK2 Gene Is Associated with Protection for Type 1 Diabetes Mellitus
title_full The rs2304256 Polymorphism in TYK2 Gene Is Associated with Protection for Type 1 Diabetes Mellitus
title_fullStr The rs2304256 Polymorphism in TYK2 Gene Is Associated with Protection for Type 1 Diabetes Mellitus
title_full_unstemmed The rs2304256 Polymorphism in TYK2 Gene Is Associated with Protection for Type 1 Diabetes Mellitus
title_short The rs2304256 Polymorphism in TYK2 Gene Is Associated with Protection for Type 1 Diabetes Mellitus
title_sort rs2304256 polymorphism in tyk2 gene is associated with protection for type 1 diabetes mellitus
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8640150/
https://www.ncbi.nlm.nih.gov/pubmed/34225445
http://dx.doi.org/10.4093/dmj.2020.0194
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