- Genetics
- The rs2304256 Polymorphism in TYK2 Gene Is Associated with Protection for Type 1 Diabetes Mellitus
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Felipe Mateus Pellenz, Cristine Dieter, Guilherme Coutinho Kullmann Duarte, Luís Henrique Canani, Bianca Marmontel de Souza, Daisy Crispim
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Diabetes Metab J. 2021;45(6):899-908. Published online May 24, 2021
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DOI: https://doi.org/10.4093/dmj.2020.0194
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 Graphical Abstract
 Abstract
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 - 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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Citations
Citations to this article as recorded by  - Associations of genetic variants within TYK2 with pulmonary tuberculosis among Chinese population
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Advances in Medical Sciences.2024; 69(1): 198. CrossRef - Cross-Domain Text Mining of Pathophysiological Processes Associated with Diabetic Kidney Disease
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Frontiers in Endocrinology.2024;[Epub] CrossRef - Genetic evidence for efficacy of targeting IL-2, IL-6 and TYK2 signalling in the prevention of type 1 diabetes: a Mendelian randomisation study
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Diabetologia.2024;[Epub] CrossRef
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