Abstract
A recent study employing Australian and UK type 1 diabetes families has demonstrated significant transmission bias to affected offspring of a polymorphism (1188A allele; termed allele 1) in the 3′ untranslated region (3′UTR) of the interleukin 12B (IL12B) gene which encodes the IL-12p40 subunit of the pro-inflammatory cytokine IL-12. However, results from replication studies in other populations have been controversial. We performed both case–control (n=120 cases; n=330 controls) and family-based (n=307 families) association studies, using the transmission disequilibrium test, to investigate if allele 1 is associated with early-onset type 1 diabetes in Northern Ireland. No association was observed between allele 1 and type 1 diabetes in either case–control (80.8% vs 80.8%; P=0.98) or family-based (49.7% transmissions; P=0.94) studies. Our results do not support earlier reports of an association between allele 1 in the 3′UTR of the IL12B gene and type 1 diabetes.
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Acknowledgements
We thank nurse Oonagh McGlone for sampling patients and their families, and Jill Toombs and Anne Bingham for technical assistance. We are grateful to those clinicians who assisted in patient recruitment and to Professor Ian Young, Department of Medicine, Queen's University Belfast, for access to control DNA samples. We also thank the Northern Ireland Kidney Research Fund for supporting Rose McCormack, and the Northern Ireland Research and Development Office for funding Oonagh McGlone.
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McCormack, R., Maxwell, A., Carson, D. et al. The IL12B 3′ untranslated region DNA polymorphism is not associated with early-onset type 1 diabetes. Genes Immun 3, 433–435 (2002). https://doi.org/10.1038/sj.gene.6363893
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DOI: https://doi.org/10.1038/sj.gene.6363893
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