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The association between type 1 diabetes and the ITPR3 gene polymorphism due to linkage disequilibrium with HLA class II

Genes & Immunity volume 9, pages 264–266 (2008)Cite this article

Abstract

A fine mapping study of the MHC region in a Swedish case–control population sample reported a novel type 1 diabetes (T1D) association from the inositol 1-, 4-, 5-trisphosphate receptor type 3 gene (ITPR3) in a case–control study, reportedly independent of the HLA class II effect. We attempted to replicate this novel association in a family-based study of 1120 T1D families with at least one affected child, an approach immune to population stratification. We found association of the ITPR3 single nucleotide polymorphisms (SNPs) rs2296336 with T1D but in a direction opposite to that reported. Moreover, rs2296336 was in linkage disequilibrium (LD) with specific alleles of the HLA DQB1 gene. Conditional regression showed that all of the ITPR3 SNP T1D association could be accounted for by the DQB1 effect. Therefore, our findings do not support an obvious role of genetic variation of the ITPR3 gene in T1D risk.

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Acknowledgements

We thank all families who agreed to participate in this study and Diane Laforte and her PRUDENT team for the high standards of their recruiting effort. This study was funded by the Juvenile Diabetes Research Foundation International. HQQ is supported by a fellowship from the Canadian Institutes of Health Research.

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Authors and Affiliations

  1. Endocrine Genetics Lab, The McGill University Health Center (Montreal Children's Hospital), Montréal, Québec, Canada

    H-Q Qu, L Marchand, A Szymborski, R Grabs & C Polychronakos

  2. Departments of Pediatrics and Human Genetics, The McGill University Health Center (Montreal Children's Hospital), Montréal, Québec, Canada

    C Polychronakos

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  1. H-Q Qu
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  2. L Marchand
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  3. A Szymborski
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  4. R Grabs
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  5. C Polychronakos
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Correspondence to C Polychronakos.

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Supplementary Information accompanies the paper on Genes and Immunity website (http://www.nature.com/gene)

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Qu, HQ., Marchand, L., Szymborski, A. et al. The association between type 1 diabetes and the ITPR3 gene polymorphism due to linkage disequilibrium with HLA class II. Genes Immun 9, 264–266 (2008). https://doi.org/10.1038/gene.2008.12

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  • DOI: https://doi.org/10.1038/gene.2008.12

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