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