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CD14 polymorphisms correlate with an augmented risk for celiac disease in Italian patients

Genes & Immunity volume 13, pages 489–495 (2012)Cite this article

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Abstract

Celiac disease (CD) is a T-cell-mediated chronic inflammatory disease characterized by autoimmune, immunological and environmental components, where genetic factors in addition to the main known risk factors (gliadin and human leukocyte antigen (HLA)-DQ haplotypes) are supposed to be involved. CD14 is a multifunctional receptor involved in the bacterial lipopolysaccharides-dependent signal transduction. The CD14 gene maps on the long arm of chromosome 5 (5q22-q32), a ‘hotbed’ region for CD; promoter polymorphisms are known to influence its expression. In this study we analyzed three CD14 promoter polymorphisms (c.-1359G>T, c.-1145A>G and c.-159C>T, ) in 938 CD Italian patients and 533 healthy controls, with known HLA-DQ haplotypes, with the aim of evaluating their possible association with the disease. The c.-1145A>G G and c.-159C>T T alleles (as well as the combination of the two alleles in the GT haplotype), were identified as susceptibility factors for CD development, being significantly more frequent in CD patients than in healthy controls. This association was also confirmed when the analysis was restricted to only those subjects characterized by HLA-DQ risk haplotypes. Our results indicate the involvement of CD14 gene polymorphisms in the susceptibility to CD.

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Acknowledgements

This study has been supported by a grant (RC03/04) from the IRCCS Burlo Garofolo, Trieste (Italy). SC is recipient of a fellowship grant from European Project “Talents for an International House” within the framework of the 7th Research and Development Framework Program PEOPLE – Marie Curie Actions – COFUND (Co-Funding of Regional, National and International Programmes).

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Authors and Affiliations

  1. Institute for Maternal and Child Health - IRCCS “Burlo Garofolo”, Trieste, University of Trieste, Trieste, Italy

    E Catamo & S Crovella

  2. Institute for Maternal and Child Health - IRCCS “Burlo Garofolo”, Trieste, Italy

    L Segat, S Lenarduzzi, V Petix & M Morgutti

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  1. E Catamo
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Correspondence to L Segat.

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Catamo, E., Segat, L., Lenarduzzi, S. et al. CD14 polymorphisms correlate with an augmented risk for celiac disease in Italian patients. Genes Immun 13, 489–495 (2012). https://doi.org/10.1038/gene.2012.23

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