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Vol 42(2008) N 1 p. 37-43;
A.A. Rudko1, E.I. Kondratieva2, G.N. Yankina2, E.V. Loshkova2, V.P. Puzyrev1,2

Association of polymorphisms of immune response modifier genes with celiac disease and its clinical forms in the Tomsk population

1Institute of Medical Genetics, Tomsk Research Center, Siberian Division, Russian Academy of Medical Sciences, Tomsk, 634050, Russia
2Siberian State Medical University, Tomsk, 634050, Russia
Received - 2007-02-19; Accepted - 2007-03-16

Association of different alleles of immune response modifier genes IL1B (+3953A1/A2), IL1RN (VNTR), IL4 (3'-UTR G/C), IL4RA (I50V), IL12B (1188A/C), and VDR (F/f and B/b) with celiac disease (CD) and its clinical forms was investigated in a family cohort of CD patients from the Tomsk region (N = 139, including 49 probands, i.e., affected children). The control group comprised 129 healthy Russians from Tomsk. A case-control study did not associate any of the polymorphic markers with CD. In a family-based study, the 3'-UTR G/C polymorphism of IL4 was associated with CD (P = 0.024), its atypical form (P = 0.001), and its complications such as osteopenia (P = 0.039) and autoimmune thyroiditis (P = 0.042). IL4RA and VDR polymorphisms I50V and F/f were associated with the typical form of CD (P = 0.001 and P = 0.009, respectively). In general, associations with CD phenotypes were shown primarily for polymorphisms of the genes involved in Th2 immunity.

celiac disease, genetic predisposition, candidate genes, polymorphism, cytokines



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