Sanjeevi C B, Zeidler A, Shaw S, Rotter J, Nepom G T, Costin G, Raffel L, Eastman S, Kockum I, Wassmuth R
Karolinska Institute, Dept. of Endocrinology, Karolinska Hospital, Stockholm, Sweden.
Tissue Antigens. 1993 Aug;42(2):72-7. doi: 10.1111/j.1399-0039.1993.tb02240.x.
Mexican American patients (n = 35) with insulin-dependent diabetes mellitus (IDDM) and control subjects (n = 39) were HLA-DQA and DQB typed by the polymerase chain reaction technique combined with allele-specific oligonucleotide probes. Either DQB10302 or DQB10201 was present among 91% (32/35) of the patients compared to 67% (26/39) of controls. Either DQA10501 or DQA10301 was present in all patients (100% or 35/35) compared to 29/39 (74%) (OR 12.06 Pc < 0.05) of controls. All four of these genes, in cis or trans, were present in 15/35 (43%) of the patients compared to 3/39 (8%) of controls (OR 9.0; Pc < 0.01). The presence of one or more non-susceptibility alleles showed a dose-related decrease in relative risk. Presence of aspartic acid (Asp) at position 57 of the DQ beta chain did not confer protection and non-Asp homozygosity did not confer susceptibility to IDDM in this ethnic group. In conclusion, susceptibility to IDDM in Mexican Americans is associated with particular DQA and DQB combinations, illustrates dose-dependent parameters and contradicts the critical residue hypothesis.
采用聚合酶链反应技术结合等位基因特异性寡核苷酸探针，对35例胰岛素依赖型糖尿病（IDDM）墨西哥裔美国患者和39例对照者进行HLA - DQA和DQB分型。91%（32/35）的患者存在DQB10302或DQB10201，而对照者中这一比例为67%（26/39）。所有患者（100%，即35/35）均存在DQA10501或DQA10301，对照者中这一比例为29/39（74%）（优势比12.06；Pc<0.05）。这四个基因以顺式或反式形式存在于15/35（43%）的患者中，对照者中这一比例为3/39（8%）（优势比9.0；Pc<0.01）。一个或多个非易感等位基因的存在显示相对风险呈剂量相关下降。在该种族群体中，DQβ链第57位存在天冬氨酸（Asp）并不能提供保护作用，而非Asp纯合性也不会使个体易患IDDM。总之，墨西哥裔美国人对IDDM的易感性与特定的DQA和DQB组合相关，呈现剂量依赖参数，且与关键残基假说相矛盾。
