Leading article
Recent advances in coeliac disease genetics
Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, London, UK
Correspondence to:
Dr K A Hunt, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, 4 Newark St, Whitechapel, London E1 2AT, UK; k.a.hunt@qmul.ac.uk
Revised version received 17 September 2008
Accepted 4 October 2008
| The first 150 words of the full text of this article appear below. |
Around 1 in 100 individuals of European descent have coeliac disease. An immune response in the small intestine is generated to fragments of "gluten", storage proteins found in wheat, rye and barley. The inflammatory response leads to architectural changes in the small intestine, including villous atrophy, crypt hyperplasia and an increase in the number of intra-epithelial cells. If gluten is removed from the diet, in many cases architecture returns to normal over several months. While gluten is one well known environmental factor, inherited genetic factors are also know to affect disease susceptibility as can be seen from twin and family studies.1 Identification of these genetic factors has been advanced substantially by the first genome-wide association scan (GWAS) in coeliac disease.2 This, along with a follow-up study, has identified eight new genomic regions, seven of which contains genes with immunological functions.2 3
SETTING THE SCENE: THE HUMAN LEUCOCYTE ANTIGEN REGION IN COELIAC DISEASE
Until recently the only well replicated genetic association for coeliac
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