De la Concha E G, Fernandez-Arquero M, Mendoza J L, Conejero L, Figueredo M A, Perez de la Serna J, Diaz-Rubio M, Ruiz de Leon A
Department of Immunology, San Carlos University Hospital, Madrid, Spain.
Tissue Antigens. 1998 Oct;52(4):381-4. doi: 10.1111/j.1399-0039.1998.tb03059.x.
Achalasia is a motor disorder of the esophagus resulting in functional obstruction. The cause of the lesion is unknown although genetic and immunologic factors have been suggested. An association with serological HLA epitopes has been previously reported. In this study, we have further examined this HLA class II association with susceptibility to achalasia by DNA based methods. Achalasia patients (n=40) and healthy controls (n=275), all Caucasians and unrelated, were included in the analysis. The strongest associations were with HLA-DQA10101 and two HLA-DQ alphabeta heterodimers having their alpha chain encoded by this allele. Moreover, relative risk was significantly higher in DQA10101 homozygotes as compared to heterozygotes and results suggested that DQB1*02 may have a protective role.
贲门失弛缓症是一种导致功能性梗阻的食管运动障碍性疾病。尽管有人提出遗传和免疫因素，但该病变的病因尚不清楚。此前已有报道称其与血清学HLA表位有关。在本研究中，我们通过基于DNA的方法进一步研究了这种HLA II类分子与贲门失弛缓症易感性的关联。分析纳入了40例贲门失弛缓症患者和275例健康对照，均为白种人且无亲缘关系。最强的关联是与HLA-DQA10101以及两个HLA-DQαβ异二聚体相关，这两个异二聚体的α链由该等位基因编码。此外，与杂合子相比，DQA10101纯合子的相对风险显著更高，结果表明DQB1*02可能具有保护作用。
