OBJECTIVETo investigate the relationship between the HLA-DQB1 allele polymorphisms and the clinical features of 15 familial myasthenia gravis (MG) cases in north China.

METHODSBy polymerase chain reaction-sequence specific primers (PCR-SSP), the HLA-DQB1 gene polymorphisms were determined in 64 MG patients (15 familial and 49 sporadic) and 52 healthy individuals as control group. The clinical characteristics of 15 familial MG patients and 49 sporadic were analyzed. The measurement data was analyzed by t test and enumeration data by chi-square test.

RESULTSThe frequency of DQB1*0501 was significantly increased in familial MG, especially in the ocular type, compared with sporadic MG (P<0.05, OR=3.08) and healthy controls (P<0.01, OR=4.439). Comparing with healthy controls, the frequency of DQB1*0301/4 was increased (P<0.05, OR=2.56), while the frequency of DQB1*0601 was significantly decreased (P<0.05, OR=0.33) in sporadic MG. The familial patients had an early age of disease onset, but less severity and good prognosis.

CONCLUSIONThe familial MG has distinctive clinical features. DQB1*0501 allele is positively related to the genetic susceptibility to familial MG patients in north China, especially to the ocular type. DQB1*0301/4 allele is positively related to the pathogenesis of sporadic MG. DQB1*0601 may be a protecting allele for sporadic MG. The phenotype of MG may be the result of interaction of hereditary defects and environmental factors. The familial MG may be different from sporadic patients in genetic immune mechanism.