Polymorphism within the HLA-DQB1*02 promoter associated with susceptibility to coeliac disease.
Susceptibility to coeliac disease is associated with a particular HLA-DQ alpha beta heterodimer encoded by the DQA1*0501 and DQB1*02 genes. A single base polymorphism in the DQB1*02 promoter region in DR7, DQA1*0201, DQB1*02 haplotypes was observed, associated with an increased susceptibility to the disease. This finding suggests a novel mechanism of susceptibility to immune-mediated diseases.
Fernandez-Arquero
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Department of Immunology, San Carlos University Hospital, Madrid, Spain.
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D000483:Alleles; D001483:Base Sequence; D002446:Celiac Disease / Q000235:genetics*; D002460:Cell Line; D004247:DNA / Q000032:analysis; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D006683:HLA-DQ Antigens / Q000235:genetics*; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; D015809:HLA-DR7 Antigen / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D007962:Leukocytes; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D014158:Transcription, Genetic
D006683:HLA-DQ Antigens; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; C069050:HLA-DQA1 antigen; C069051:HLA-DQB1 antigen; D015809:HLA-DR7 Antigen; D004247:DNA