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

E. Catamo, L. Segat, S. Lenarduzzi, V. Petix, M. Morgutti, S. Crovella

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)489-495
Number of pages7
JournalGenes and Immunity
Issue number6
Publication statusPublished - Sep 2012


  • CD14
  • Celiac Disease
  • HLA
  • immune response
  • inflammation
  • SNPs

ASJC Scopus subject areas

  • Genetics(clinical)
  • Immunology
  • Genetics


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