Sarah Don 7.013 Spring 2010
Coelic Disease
Summary of Association study of 1L2/IL21 and FeyRUla: significant association with the IL2/IL21 region
in Scandinavian coeliac disease families (Genes and Immunity (2008) 9, 364267) and overview of the
biochemical mechanism involved in coeliac disease.
Figure 1 ~The micrograph on the right shows the erossseetion of
and well defined, creating a large surface area for nutrient absorption. ‘The micrograph on the left, however, shows
the cross-section of a small intestinal lining semple taken from a patient with eooliae disease; note how the vii are
stunted andl much smoother than the villi of the healthy individual
Coeliac disease is sensitivity to gliadin (a protein found in gluten) that leads to the degradation of the vil
in the stall intestine (see figure 1). It is an autoimmune disease caused by a mutation in a human
leukocyte antigen (HLA) gene and is associated with several single nucleotide polymorphism (SNP)
mutations in the KJAA 11009/Tenr/IL2/IL21 gene region of chromosome 4q27 (see figure 2). These SNPS
span a linkage disequilibrium block of approximately 480kb.
Chr 4
a a8 ta a zee 38an a2 8 aaan aaa
22392 2292 2E3S FTTT ESBS BF GBIE SBE
c at