Garrote J A, Arranz E, Blanco-Quirós A
Laboratorio de Pediatría, Facultad de Medicina, Valladolid, Spain.
Immunogenetics. 2000 Oct;51(12):1045-6. doi: 10.1007/s002510000241.
We studied nine consecutive DQ2-negative celiacs [from a group of 186 consecutive celiac disease (CD) patients] for the presence of the HLA-DQB1, DRB1, and DRBx alleles. HLA-DR53 was present in only 5 out of 9 (55%) of DQ2-negative patients. DRB4 (DR53) positivity -39% of chromosomes--among Spanish DQ2-negative CD patients is due to both DR4- and DR7-positive cases. Spanish DQ2-positive patients show a high frequency of DR7/DR11 heterozygous carriers of DRB4 (DR53). One-third of our DQ2-negative celiac patients have DRB104 (DR4). Six patients are DR4 negative: at least one of the DQ2 alleles (DQA10501/DQB102) is present in four cases, but none of the alleles of risk, including DR53, were found in the remaining two cases, both of whom carry DQB106 alleles (*0602/3 and 0604). The fact that half of our DQ2-negative patients lack DRB4 (DR53) leads us to believe that this gene is not an essential factor to confer CD susceptibility.
我们研究了[来自186例连续性腹腔疾病（CD）患者群体中的]9例连续性DQ2阴性腹腔疾病患者，检测其HLA-DQB1、DRB1和DRBx等位基因的存在情况。在9例DQ2阴性患者中，仅有5例（55%）存在HLA-DR53。西班牙DQ2阴性CD患者中DRB4（DR53）阳性率为39%的染色体，这是由DR4阳性和DR7阳性病例共同导致的。西班牙DQ2阳性患者中DRB4（DR53）的DR7/DR11杂合携带者频率较高。我们的DQ2阴性腹腔疾病患者中有三分之一携带DRB104（DR4）。6例患者为DR4阴性：4例患者中至少存在一种DQ2等位基因（DQA10501/DQB102），但在其余2例患者中未发现包括DR53在内的任何风险等位基因，这2例患者均携带DQB106等位基因（*0602/3和0604）。我们一半的DQ2阴性患者缺乏DRB4（DR53）这一事实，使我们认为该基因并非赋予CD易感性的必要因素。
