ABSTRACT
Myasthenia gravis [MG] is the most common disorder of neuromuscular junction in which autoantibodies develop against nicotinic acetylcholine receptor for unknown reasons. The association of immunomodulator genes with different autoimmune disease has been studied in recent years. The aim of this study was to investigate correlation between a genetic variation in Stromal Cell Derived Factor-1 [SDF1] and susceptibility to MG in an Iranian population. Genotyping of SDF1 at position 801 G/A was performed by Polymerase Chain Reaction-Restriction Length Polymorphism [PCRRFLP] in 87 patients with confirmed myasthenia gravis and 261 normal control subjects. No statistically significant differences were observed in the frequencies of genotypes and alleles between patients and controls [p>0.05]. Furthermore, no significant differences in the genotype distribution were found between the cases with different stages [p>0.05]. Our data suggest that the SDF1 gene polymorphism at position 801 G/A is not associated with myasthenia gravis
ABSTRACT
Myasthenia gravis is an autoimmune disorder of neuromuscular junction characterized by skeletal muscle weakness and fatigability. Different genes may control the induction and clinical presentation of this disease. Various HLA alleles are reported as predisposing or protective genetic elements in myasthenia gravis The aim of this study was to investigate the probable association between HLA-DQ alleles and myasthenia gravis in southern Iranian patients. HLA-DQA1 and DQB1 alleles were determined in 104 sporadic patients with myasthenia gravis using polymerase chain reaction - restriction fragment length polymorphism method and the results were compared to 816 healthy controls. HLA-DQA1*0101/2 [39.4%] and DQB1*0502 [21.6%] were the most frequent alleles in southern Iranian patients with myasthenia gravis. These alleles revealed positive associations with the disease with relative risks of 1.69 and 2.41, respectively. The most common haplotype was DQA1*0101/2-DQB1*0502 in these patients. According to the results of this study, DQA1*0101/2 and DQB1*0502 alleles might be considered as predisposing genetic factors to myasthenia gravis while DQA1*0501, DQB1*0301 and *0602/3 show protective roles against this disease