Type 1 diabetes

Black Death protective gene mutation shows ambiguous role in type 1 diabetes, its complications, and common viral infections

Diabetes Res Clin PractPublished Case-control study

Authors' conclusion

Our findings suggest that the rs2549794 ERAP2 polymorphism may serve as a genetic marker for susceptibility to T1D complications and comorbidities, further emphasizing the role of ERAP2-mediated pathways in their etiology. These results also provide new evidence supporting the hypothesis of balancing selection at this locus, driven by autoimmune and infectious diseases.

Study context

Population
Patients with T1D and healthy age-matched controls; ERAP2 polymorphism examined in relation to T1D complications and comorbidities, history of common childhood viral infections and inflammatory status
Participants
400 vs 300
Comparison
ERAP2 polymorphism variants in T1D patients vs healthy controls
  • T1Dn = 400
  • Controlsn = 300reference
Outcome
ERAP2 polymorphism and risk of T1D
Methodological detailsage-matched controls
  • Age-matched controls

Main finding

As reported in the abstract

  • The T allele is linked to a decreased risk of developing diabetes
  • T allele modulates T1D complications in a differential manner and has diverse effects on inflammatory status of T1D patients

Observational data: associations, not effects.

Further findings

Statistically significant differences in the correlation of monocyte subsets, quantitative status of CD4+CD25high FOXP3+ regulatory T cells, and susceptibility to common childhood viral infections between ERAP2 variants

Original publication

Black Death protective gene mutation shows ambiguous role in type 1 diabetes, its complications, and common viral infections. Diabetes Res Clin Pract. Published 29 May 2025. doi:10.1016/j.diabres.2025.112287

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