CONTRIBUTION OF HLA CLASS-II GENES TO SUSCEPTIBILITY IN ACHALASIA

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 serologic al HLA epitopes has been previously reported, In this study, we have f urther examined this HLA class II association with susceptibility to a chalasia by DNA based methods. Achalasia patients(n=40) and healthy co ntrols (n=275), all Caucasians and unrelated, were included in the ana lysis, The strongest associations were with HLA-DQA10101 and two HLA- DQ alpha beta heterodimers having their alpha chain encoded by this al lele, Moreover, relative risk was significantly higher in DQA10101 ho mozygotes as compared to heterozygotes and results suggested that DQB1 02 may have a protective role.