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Online mutation report
Promoter polymorphisms of the CD14 gene in Italian patients with coeliac disease
  1. M Boniotto1,
  2. L Braida1,
  3. A Ventura1,
  4. S Percopo2,
  5. A Amoroso1,3,
  6. S Crovella1,3
  1. 1Dipartimento di Scienze della Riproduzione e dello Sviluppo, Universita’ di Trieste, Via dell’Istria 65/1, 34137 Trieste, Italy
  2. 2Dipartimento di Pediatria, Universita’ di Napoli Federico II, Via Pansini 5, 80131 Napoli, Italy
  3. 3Servizio di Genetica, IRCCS Burlo Garofolo, Via dell’Istria 65/1, 34137 Trieste, Italy
  1. Correspondence to:
 Sergio Crovella Dipartimento di Scienze, della Riproduzione e dello Sviluppo, University of Trieste, Via dell’Istria 65/1, 34137 Trieste, Italy;
 crovella{at}burlo.trieste.it

https://doi.org/10.1136/jmg.40.9.e108

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    Coeliac disease (CD) is an autoimmune enteropathy triggered by ingestion of wheat gluten or related protein from rye and barley, and is one of the most frequently occurring, treatable, lifelong disorders.1,2 Undetected or untreated CD may cause other, more severe, complications later, such as autoimmune diseases, osteoporosis, neurological disorders, and infertility.3,4

    Several studies have shown CD clusters in families with a sibling relative risk of 20–60 and high concordance between monozygotic twins (75%),5–8 which indicates a strong genetic component to coeliac disease. As expected in complex autoimmune diseases, human leukocyte antigen (HLA) linked genes are the main genetic factor involved in CD. More than 90% of patients suffering from CD share the major histocompatibility complex II class HLA-DQ2 haplotype. Most of the remainder present HLA-DQ8. However, there are patients who present neither HLA-DQ8 nor HLA-DQ2 on their antigen-presenting cells. These genetic findings strongly indicate the involvement of other genes in the pathogenesis of coeliac disease. So far, various genome-wide linkage analyses have been performed in order to identify non-HLA linked genes responsible for CD. A recent study by Greco et al.9 on Italian coeliac families demonstrated the existence of a genetic risk factor on chromosome 5 (5q31–33), which has been reported in other linkage studies in different populations.10,11 This genomic region contains several candidate genes for CD, including the interleukin (IL12B) gene, the polymorphisms of which do not seem to be associated with CD,12 and the gene encoding for CD14.13

    CD14 is a multifunctional receptor involved in the innate immune response. In fact, it is thought to be one of the most important receptors for lipopolysaccharide and other bacterial wall-derived components.14–16 However it is well known that CD14 has several other functions,17,18 including the clearance …

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