Ploski R, Ek J, Thorsby E, Sollid L M
Institute of Transplantation Immunology, University of Oslo, National Hospital, Norway.
Tissue Antigens. 1993 Apr;41(4):173-7. doi: 10.1111/j.1399-0039.1993.tb01998.x.
The HLA-associated susceptibility to develop celiac disease (CD) seems mainly to be conferred by a particular HLA-DQ heterodimer encoded by the DQA10501 and DQB10201 genes either in cis or in trans position. To study the possible influence of DRB1 or other DQA1 and DQB1 alleles on the CD susceptibility conferred by these DQ genes, we performed genomic HLA typing of 94 CD patients, selected those who carried at least one copy of the DRB10301-DQA10501-DQB10201 haplotype (N = 89) and compared them to 47 random, healthy Norwegians matched with the patients to carry at least one copy of the above haplotype. We found an excess of DQB10201 homozygosity in the patients. This was due to an increased frequency of the DRB10301-DQA10501-DQB10201 and DRB10701-DQA10201-DQB10201 haplotypes present on the other chromosome. We propose that, in individuals carrying the DQA10501 and DQB10201 alleles, the presence of a second copy of the DQB1*0201 allele increases susceptibility to CD.
与HLA相关的患乳糜泻（CD）易感性似乎主要由DQA10501和DQB10201基因编码的特定HLA-DQ异二聚体以顺式或反式位置赋予。为了研究DRB1或其他DQA1和DQB1等位基因对这些DQ基因赋予的CD易感性的可能影响，我们对94例CD患者进行了基因组HLA分型，选择那些携带至少一份DRB10301-DQA10501-DQB10201单倍型的患者（N = 89），并将他们与47名随机的、健康的挪威人进行比较，这些挪威人与患者匹配，以携带至少一份上述单倍型。我们发现患者中DQB10201纯合子过多。这是由于另一条染色体上存在的DRB10301-DQA10501-DQB10201和DRB10701-DQA10201-DQB10201单倍型频率增加。我们提出，在携带DQA10501和DQB10201等位基因的个体中，DQB1*0201等位基因的第二个拷贝的存在会增加患CD的易感性。
