Li P K, Burns A P, So A K, Pusey C D, Feehally J, Rees A J
Department of Medicine, Royal Postgraduate Medical School, Hammersmith Hospital, London, United Kingdom.
Kidney Int. 1991 May;39(5):961-5. doi: 10.1038/ki.1991.121.
The frequencies of the MHC class II HLA-DR and DQ alleles in 36 Caucasian patients with IgA nephropathy (IgAN) were analyzed by RFLP analysis and allele specific oligonucleotide (ASO) probing of specifically amplified genomic DNA. The class II alleles HLA-DR4 (52.7%) and DR5 (30.5%) were increased in the patient group compared to 1103 UK Caucasoid controls, but these increases were not statistically significant. However, there was a significant increase in the HLA-DQw7 allele frequency (71%) (c = 27.8%, chi 2 = 29.2, P less than 0.001, Relative Risk = 6.17). This can be explained by linkage disequilibrium between the DQw7 allele at the DQB1 locus and DRB1 genes of some DR4 and all DR5 haplotypes. The polymorphic portion of the DQ alpha chains from DR4, DQw7 and DR5, DQw7 haplotypes differ but they have identical DQ beta chains. DNA encoding DQw7 allele at the DQB1 locus was sequenced in two patients and was identical to that previously published. We conclude that the DQw7 allele at the DQB1 locus is strongly associated with susceptibility to IgAN in Caucasians.
采用限制性片段长度多态性分析（RFLP）及对特异性扩增的基因组DNA进行等位基因特异性寡核苷酸（ASO）探针杂交的方法，分析了36例白种人IgA肾病（IgAN）患者的MHCⅡ类HLA - DR和DQ等位基因频率。与1103名英国白种人对照相比，患者组中Ⅱ类等位基因HLA - DR4（52.7%）和DR5（30.5%）有所增加，但这些增加无统计学意义。然而，HLA - DQw7等位基因频率显著增加（71%）（对照组为27.8%，χ2 = 29.2，P＜0.001，相对危险度 = 6.17）。这可由DQB1位点的DQw7等位基因与某些DR4和所有DR5单倍型的DRB1基因之间的连锁不平衡来解释。来自DR4，DQw7和DR5，DQw7单倍型的DQα链的多态性部分不同，但它们具有相同的DQβ链。对两名患者DQB1位点编码DQw7等位基因的DNA进行测序，结果与先前发表的相同。我们得出结论，DQB1位点的DQw7等位基因与白种人对IgAN的易感性密切相关。
