BACKGROUND: The deletion mutation of glutamate codon (GAG) in the TOR1A gene is a major cause of primary generalized dystonia. Recent genetic studies suggest that the rs1182 polymorphism in the same gene may represent a risk factor for primary dystonia. However, this finding has been inconsistent. Furthermore, no data on such an association in a Chinese population have been published. METHODS: A total of 291 patients with primary dystonia from the Department of Neurology, West China Hospital of Sichuan University were included. From the same region, 294 healthy individuals were recruited as a control group. The SNP was identified by polymerase chain reaction-restriction fragment length polymorphism. RESULTS: In the present study, focal dystonia was the most common presented form. No difference was found in the genotype frequency, minor allele frequencies, and "G" allele frequency between all dystonia patients and controls. No difference was found either, between early- and late-onset dystonia patients, patients with and without a positive family history, patients with pain and without pain, and patients with and without sensory trick. Moreover, no significant differences in the genotype and allele frequencies were found among different dystonia subtypes. CONCLUSION: No association of the rs1182 of TOR1A with Chinese primary dystonia was found. More studies on such an association involving a larger number of participants, especially from Asian populations, are needed to confirm the present findings.
BACKGROUND: The deletion mutation of glutamate codon (GAG) in the TOR1A gene is a major cause of primary generalized dystonia. Recent genetic studies suggest that the rs1182 polymorphism in the same gene may represent a risk factor for primary dystonia. However, this finding has been inconsistent. Furthermore, no data on such an association in a Chinese population have been published. METHODS: A total of 291 patients with primary dystonia from the Department of Neurology, West China Hospital of Sichuan University were included. From the same region, 294 healthy individuals were recruited as a control group. The SNP was identified by polymerase chain reaction-restriction fragment length polymorphism. RESULTS: In the present study, focal dystonia was the most common presented form. No difference was found in the genotype frequency, minor allele frequencies, and "G" allele frequency between all dystoniapatients and controls. No difference was found either, between early- and late-onset dystoniapatients, patients with and without a positive family history, patients with pain and without pain, and patients with and without sensory trick. Moreover, no significant differences in the genotype and allele frequencies were found among different dystonia subtypes. CONCLUSION: No association of the rs1182 of TOR1A with Chinese primary dystonia was found. More studies on such an association involving a larger number of participants, especially from Asian populations, are needed to confirm the present findings.