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  • Title: HLA-DR3 and DR7 in coeliac disease: immunogenetic and clinical aspects.
    Author: Demarchi M, Carbonara A, Ansaldi N, Santini B, Barbera C, Borelli I, Rossino P, Rendine S.
    Journal: Gut; 1983 Aug; 24(8):706-12. PubMed ID: 6603391.
    Abstract:
    The association of HLA-A,B,C, DR polymorphisms and of Bf and GLO with coeliac disease was analysed in 100 Italian children. Primary involvement of HLA-DR3 and DR7 is apparent, while specificities of nearby loci are probably associated secondarily, because of linkage disequilibrium. Direct assessment of D/DR genotype through family studies and mixed lymphocyte cultures led to the recognition of two high risk genotypes DR3/3 and DR3/7, and of two lower risk genotypes DR3/X and DR7/X. The different weight of the HLA-dependent genetic factors is to some extent correlated with the clinical and immunological parameters, suggesting that the low-risk genotypes induce a milder expression of coeliac disease. Furthermore, other genetic factors, such as sex, appear to contribute to the penetrance of the disease, especially in the case of DR3/X and DR7/X.
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