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Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia

Genes & Immunity volume 10, pages 15–17 (2009)Cite this article

Abstract

Variation within intron 19 of the CLEC16A (KIAA0350) gene region was recently found to be unequivocally associated with type 1 diabetes (T1D) in genome-wide association (GWA) studies in Northern European populations. A variant in intron 22 that is nearly independent of the intron 19 variant showed suggestive evidence of association with multiple sclerosis (MS). Here, we genotyped the rs725613 polymorphism, representative of the earlier reported associations with T1D within CLEC16A, in 1037 T1D cases, 1498 MS cases and 1706 matched controls, all from the founder, autoimmunity-prone Sardinian population. In these Sardinian samples, allele A of rs725613 is positively associated not only with T1D (odds ratio=1.15, P one-tail=5.1 × 10−3) but also, and with a comparable effect size, with MS (odds ratio=1.21, P one-tail 6.7 × 10−5). Taken together these data provide evidence of joint disease association in T1D and MS within CLEC16A and underline a shared disease pathway.

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Acknowledgements

We thank Mario Maioli, Daniela Contu, Costantino Motzo, Franca Zurrida, Francesca Deidda, Gabriele Farina, Paola Cossu and Wanda Garau for help and support. This work was supported by funds from FISM-Fondazione Italiana Sclerosi Multipla—Cod. 2004/R/5to FC and from Regione Autonoma Sardegna (Progetto Educazione Sanitaria) to FC.

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Author notes

  1. F Cucca and M G Marrosu: These authors contributed equally to this work.

  2. Professor F Cucca, Dipartimento di Scienze Biomediche, Università degli Studi di Sassari, Viale S Pietro 43b, Sassari 07100, Italy

  3. Professor F Cucca, Laboratorio di Immunogenetica, Edificio 5, Sardegna Ricerche, Loc. Piscina Manna, Pula, Italy. E-mail: fcucca@uniss.it

Authors and Affiliations

  1. Dipartimento di Scienze Biomediche, University of Sassari, Sassari, Italy

    M Zoledziewska, M Pitzalis, L Morelli, F Poddie, M B Whalen & F Cucca

  2. Dipartimento di Scienze Neurologiche e Cardiovascolari, Centro Sclerosi Multipla, University of Cagliari, Cagliari, Italy

    G Costa, E Cocco, C Melis, L Moi, R Murru & M G Marrosu

  3. Dipartimento di Scienze Pediatriche, University of Cagliari, Cagliari, Italy

    P Zavattari & R Lampis

  4. Divisione Pediatrica, Ospedale Brotzu, Cagliari, Italy

    P Frongia & P Pusceddu

  5. Centro Trasfusionale Ospedale Brotzu, Cagliari, Italy

    M Bajorek & A Marras

  6. Centro Trasfusionale ASL No 1, Sassari

    A M Satta & A Chessa

  7. Italy,

    A M Satta & A Chessa

  8. Dipartimento di Neuroscienze e Scienze Materno-Infantili, Centro Sclerosi Multipla, University of Sassari, Sassari, Italy

    M Pugliatti, S Sotgiu & G Rosati

Authors
  1. M Zoledziewska
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  2. G Costa
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  3. M Pitzalis
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  4. E Cocco
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  5. C Melis
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  6. L Moi
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  7. P Zavattari
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  8. R Murru
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  9. R Lampis
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  10. L Morelli
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  11. F Poddie
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  12. P Frongia
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  13. P Pusceddu
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  14. M Bajorek
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  15. A Marras
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  16. A M Satta
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  17. A Chessa
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  18. M Pugliatti
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  19. S Sotgiu
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  20. M B Whalen
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  21. G Rosati
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  22. F Cucca
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  23. M G Marrosu
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Corresponding author

Correspondence to F Cucca.

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Zoledziewska, M., Costa, G., Pitzalis, M. et al. Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia. Genes Immun 10, 15–17 (2009). https://doi.org/10.1038/gene.2008.84

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  • DOI: https://doi.org/10.1038/gene.2008.84

Keywords

  • type 1 diabetes
  • multiple sclerosis
  • sardinia
  • autoimmunity, CLEC16A

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