HLA-DQA1 Polymorphism And Genetic Susceptibility To Familial Myasthenia Gravis In North China

Objective-background HLA-DQA1 gene polymorphism has been associated with genetic susceptibility to sporadic myasthenia gravis, but the relationship between HLA-DQA1 gene polymorphism and familial myasthenia gravis remains unclear. The present study is to analyze the association between HLA-DQA1 gene polymorphism and familial myasthenia gravis in North China.Method 15 familial myasthenia gravis patients, 36 sporadic myasthenia gravis patients and 47 healthy controls in North China were investigated for HLA-DQA1 genotyping by polymerase chain reaction-sequence specific primers (PCR-SSP).Results Compared with sporadic myasthenia gravis patients and healthy controls, the frequency of DQA1*0301 allele was higher in familial myasthenia gravis patients especially in the ocular form. The difference had statistical significance, P<0.05. But there was no significant difference of DQA1*0301 allele frequency in sporadic patients as compared with healthy controls. Compared with healthy controls, the frequencies of DQA1*0501 allele in sporadic patients especially in generalized form, DQA1*0102 allele in ocular form and DQA1*0401 allele in early-onset (^40) patients were significantly higher. In sporadic myasthenia gravis patients especially in the late-onset group (>40) and generalized form, the frequency of DQA1*0103 reduced.Conclusion HLA-DQA1*0301 allele is positively related to the genetic susceptibility of familial myasthenia gravis patients especially to the ocular form, and familial myasthenia gravis maybe is different from sporadic patients in genetic immune mechanism. -DQA1*0501 allele is positively related to sporadic myasthenia gravis especially to the generalized form of this disease. DQA1*0102 and DQA1*0401 allele is respectively associated with the genetic susceptibility to the patients of ocular form and early-onset in sporadic myasthenia gravis. DQA1*0103 maybe is a protecting allele for sporadic myasthenia gravis especially for the early-onset and generalized form patients.Key words HLA-DQA1,PCR-SSP,gene polymorphism,myasthenia gravis,family,genetic susceptibility...