The role of hemochromatosis susceptibility gene mutations in protecting against iron deficiency in celiac disease

摘要: Background & Aims: Celiac disease and hereditary hemochromatosis are common HLA-defined conditions in northwestern Europe. We sought to determine whether there is a genetic relationship between the 2 diseases if susceptibility gene (HFE) mutations protective against iron deficiency celiac disease. Methods: Polymerase chain reaction amplification using sequence-specific primers capable of identifying HFE (H63D C282Y) HLA class I II alleles was used type 145 white patients with 187 matched controls. Hemoglobin fasting serum levels were measured at diagnosis. Results:HFE mutations, H63D or C282Y, identified 70 (48.3%) 61 controls (32.6%) (P = 0.004). The C282Y mutation associated HLA-A*03 B*07 A*01, A*03, B*08, DRB1*0301 patients; HLA-A*25 DRB1*03 A*29 patients. At diagnosis, had higher mean hemoglobin compared wild 0.0002 0.006, respectively). This not observed mutation. Conclusions: In disease, linkage disequilibrium different A disease-specific haplotype that carries DQB1*02 suggested. propose provide survival advantage by ameliorating seen