Report on the sequence of DQB1*0301 gene in ocular cicatricial pemphigoid patients.

Ocular cicatricial pemphigoid (OCP) is an autoimmune disease that affects the conjunctiva and other mucous membranes. Major histocompatibility complex (MHC) class II genes are important in autoimmunity because the antigen is presented to the T cell receptor in association with these molecules. A highly statistically significant association has been observed between patients with OCP and DQw7 (DQB10301) gene. DNA sequences of the second and third exons of the DQB10301 gene were determined in three OCP patients and compared with a control homozygous cell line for DQw7 from the Tenth International Histocompatibility Workshop. The sequences were identical in the patients studied and reference cell line. This data indicates that DQB1*0301 may only partly provide the enhanced susceptibility to get OCP and that another gene(s) in linkage disequilibrium with it and other factors may play an important role in the pathogenesis.