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

Felipe Mateus Pellenz1,2, Cristine Dieter1,2, Guilherme Coutinho Kullmann Duarte1,2

  • 1Endocrinology Division, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

Diabetes & Metabolism Journal
|July 6, 2021
PubMed
Abstract

Insights

The TYK2 rs2304256 single nucleotide polymorphism (SNP) A allele offers protection against type 1 diabetes mellitus (T1DM). This finding supports TYK2 as a protective gene for T1DM in a Southern Brazilian population.

Area of Science:

  • Immunogenetics
  • Molecular Biology
  • Endocrinology

Background:

  • Tyrosine kinase 2 (TYK2) is implicated in type 1 diabetes mellitus (T1DM) pathogenesis via immune and apoptotic pathways.
  • The TYK2 rs2304256 single nucleotide polymorphism (SNP) is linked to autoimmune diseases, but its association with T1DM is unclear.
  • Previous studies on rs2304256 and T1DM yielded conflicting results.

Purpose of the Study:

  • To investigate the association between the TYK2 rs2304256 SNP and T1DM.
  • To clarify the protective role of the rs2304256 SNP in T1DM development.
  • To analyze T1DM association in a Southern Brazilian cohort.

Main Methods:

  • A case-control study involving 478 T1DM patients and 518 controls.
  • Genotyping of the TYK2 rs2304256 (C/A) SNP using real-time PCR and TaqMan MGB probes.
  • Statistical analysis of genotype and allele frequencies, including inheritance models.

Main Results:

  • Significant differences in genotype and allele frequencies of rs2304256 between T1DM patients and controls (P<0.0001 and P=0.001).
  • The A allele demonstrated a protective effect against T1DM under recessive and additive models (OR 0.482 and 0.470).
  • Protection remained significant after adjusting for HLA, gender, and ethnicity.

Conclusions:

  • The A/A genotype of the TYK2 rs2304256 SNP is associated with protection against T1DM.
  • This study provides evidence for TYK2 rs2304256 as a protective factor for T1DM in Southern Brazil.
  • The findings contribute to understanding the genetic landscape of T1DM.
Keywords:
Autoimmune diseasesDiabetes mellitus, type 1Polymorphism, geneticPolymorphism, single nucleotideTYK2 kinase

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