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NFkappaB polymorphisms and susceptibility to type 1 diabetes
D M Hegazy1, D A O'Reilly, B M Yang
1Department of Molecular Medicine, Postgraduate Medical School, University of Plymouth, Plymouth PL6 8BX, UK.
Genes and Immunity
|October 19, 2001
Summary
The Nuclear Factor kappa B (NFkappaB) gene
Area of Science:
- Genetics
- Immunology
- Endocrinology
Background:
- Nuclear factor kappa B (NFkappaB) is a transcription factor crucial for oxidative stress and inflammation responses.
- Emerging evidence links NFkappaB to diabetic microvascular complications.
- A polymorphic microsatellite in the NFkappaB gene's regulatory region presents a potential genetic marker.
Purpose of the Study:
- To investigate the association between NFkappaB gene polymorphism and type 1 diabetes (T1DM) susceptibility.
- To explore the link between this polymorphism and the development of T1DM late complications.
Main Methods:
- Genomic DNA was isolated from peripheral blood samples.
- 217 T1DM patients and 111 healthy controls were analyzed.
- Allelic frequencies of the NFkappaB microsatellite were determined and compared between groups.
Main Results:
- Eighteen alleles (A1-A18) were identified in the study population.
- Allele A14 (146 bp) was significantly less frequent in T1DM patients (0.03) than in controls (0.28).
- Allele A10 (138 bp) showed a significantly higher frequency in T1DM patients (0.17) compared to controls (0.02).
Conclusions:
- The NFkappaB gene polymorphism is associated with susceptibility to type 1 diabetes.
- The A10 allele may increase the risk of developing T1DM, while the A14 allele might be protective.