Polvi A, Eland C, Koskimies S, Mäki M, Partanen J
Tissue Typing Laboratory, Finnish Red Cross Blood Transfusion Service, Helsinki, Finland.
Eur J Immunogenet. 1996 Jun;23(3):221-34. doi: 10.1111/j.1744-313x.1996.tb00117.x.
We studied DQA1, DQB1, and DPB1 alleles in 31 Finnish families with celiac disease (CD). All healthy first-degree relatives underwent clinical investigation, including in most cases biopsy, to establish whether clinically silent CD was present. Our results indicate that all patients, having either full clinical CD or its silent form, had the susceptibility alleles DQA10501 and DQB10201. The different clinical outcomes of CD were therefore not directly determined by the DQ alleles. The frequency of DPB10101 was also higher in CD patients, but the association appeared secondary to those of DQA10501 and DQB10201 (DQ2). The primary association of CD with the DQA10501 and DQB1*0201 alleles, rather than with HLA haplotypes, was confirmed in multiplex families.
我们研究了31个患有乳糜泻(CD)的芬兰家庭中的DQA1、DQB1和DPB1等位基因。所有健康的一级亲属都接受了临床检查,在大多数情况下还进行了活检,以确定是否存在临床无症状的CD。我们的结果表明,所有患有完全临床型CD或其无症状形式的患者都具有易感等位基因DQA10501和DQB10201。因此,CD的不同临床结果并非直接由DQ等位基因决定。DPB10101在CD患者中的频率也较高,但这种关联似乎是继发于DQA10501和DQB10201(DQ2)的关联。在多个家庭中证实了CD与DQA10501和DQB1*0201等位基因的主要关联,而非与HLA单倍型的关联。