HLA-DR3 and DR7 in coeliac disease: immunogenetic and clinical aspects.
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.
D000293:Adolescent; D002446:Celiac Disease / Q000178:diet therapy / Q000235:genetics / Q000276:immunology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D005983:Glutens; D015803:HLA-DR3 Antigen; D015809:HLA-DR7 Antigen; D000949:Histocompatibility Antigens Class II / Q000032:analysis*; D006801:Humans; D017098:IgA Deficiency; D007075:Immunoglobulin M / Q000032:analysis; D008297:Male; D010641:Phenotype; D012737:Sex Factors
D015803:HLA-DR3 Antigen; D015809:HLA-DR7 Antigen; D000949:Histocompatibility Antigens Class II; D007075:Immunoglobulin M; D005983:Glutens