Association between A-1438G Polymorphisms of 5-HT2A Receptor Promoter Gene and Tardive Dyskinesia

Abstract

OBJECTIVE: Tardive dyskinesia (TD) is one of the serious side effects caused by long-term treatment with neuroleptic medication. Many investigators are trying to elucidate the pathophysiological mechanism of TD, and some candidate genetic polymorphisms have been reported as associated with TD. This study investigated the association of the 5-HT2A receptor promoter gene polymorphisms with TD in Korean schizophrenic subjects. METHODS: The subjects in this study of 5-HT2A receptor gene polymorphisms were 119 schizophrenia patients, 59 with TD and 60 without. TD was evaluated by using the Abnormal Involuntary Movement Scale (AIMS). Genomic DNA was amplified by PCR and digested with MspI. RESULTS: There were no statistically significant differences in the demographic variables of age, sex ratio, duration of illness and duration of antipsychotic drug exposure between the TD and control groups. 1) A-1438G polymorphisms and TD, By comparing the TD and control groups, the -1438A/G allele was found to be associated with a significantly increased risk for TD (x2=5.560, df=1, p=0.018). 2) Three AIMS categories of TD and A-1438G genotype. There were statistically significant differences in the three AIMS categories (x2=6.835, df=2, p=0.033). CONCLUSION: These results suggest that the -1438A/G genotype of the 5-HT2A receptor gene is related to the development of TD. The -1438A/G genotypes were associated with significantly higher AIMS orofacial dyskinesia scores. These findings suggest that the 5-HT2A receptor gene is partly associated with susceptibility to TD in patients with chronic schizophrenia.