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

作者：Rudkoa A A^*; Kondratieva E I; Yankina G N; Loshkova E V; Puzyrev V P

来源：Molecular Biology, 2008, 42(1): 37-43.

DOI：10.1134/S0026893308010056

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

Association of different alleles of immune response modifier genes IL1B (+3953A1/A2), IL1RN (VNTR), IL4 (3'-UTR G/C), IL4RA (150V), 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 150V 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.

• 出版日期2008-2
• 单位河北医科大学