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Lack of replication of celiac disease risk variants reported in a Spanish population using an independent Spanish sample

Genes & Immunity volume 10, pages 659–661 (2009)Cite this article

Abstract

Celiac disease (CD) is an inflammatory condition affecting small bowel and triggered by gluten (or related proteins) ingestion in genetic susceptible individuals. Polymorphisms in three genes, SERPINE2, PPP6C and PBX3, have recently been associated with CD in the Spanish population. However, this association could not be replicated in the UK population using imputed data. As this second study analyzed a different population, we aimed at reevaluating the role of those polymorphisms using an independent Spanish sample. We genotyped three single nucleotide polymorphisms: rs6747096 in SERPINE2, rs458046 in PPP6C and rs7040561 in PBX3, in 417 CD patients, 527 ethnically matched healthy controls and parents of 304 CD patients. A case–control study using the χ2-test and a familial study using the transmission disequilibrium test were performed. No association was detected in those analyses. Therefore, our results seem to discard the role of the previously described polymorphisms in SERPINE2, PPP6C and PBX3 in CD susceptibility.

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Acknowledgements

We are most grateful to Carmen Martínez Cuervo and M. Ángel García Martínez for their expert technical assistance. This work was supported by project CP08/0213 from ‘Fondo de Investigaciones Sanitarias’. B Dema received a grant from ‘Fundación Mutua Madrileña’. C Núñez and A Martínez have an FIS contract (CP08/0213 and CP04/00175, respectively) and E Urcelay works for the ‘Fundación para la Investigación Biomédica-Hospital Clínico San Carlos’.

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Authors and Affiliations

  1. Servicio de Inmunología Clínica, Hospital Clínico San Carlos, Madrid, Spain

    B Dema, A Martínez, M Fernández-Arquero, E G de la Concha, E Urcelay & C Núñez

  2. Servicio de Pediatría, Hospital Clínico San Carlos, Madrid, Spain

    C Maluenda

  3. Servicio de Gastroenterología Pediátrica, Hospital La Paz, Madrid, Spain

    I Polanco

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  1. B Dema
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  2. A Martínez
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  3. M Fernández-Arquero
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  4. C Maluenda
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  5. I Polanco
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  6. E G de la Concha
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  7. E Urcelay
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  8. C Núñez
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Correspondence to C Núñez.

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Dema, B., Martínez, A., Fernández-Arquero, M. et al. Lack of replication of celiac disease risk variants reported in a Spanish population using an independent Spanish sample. Genes Immun 10, 659–661 (2009). https://doi.org/10.1038/gene.2009.54

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  • DOI: https://doi.org/10.1038/gene.2009.54

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