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Background:  An involvement of serotonin receptor 2A (5-HT2A) in the aetiology of schizophrenia has been hypothesised. The 5-HT2A receptor also appears to be an important site of action of atypical antipsychotic drugs. Indeed, association between schizophrenia and the T102C silent polymorphism of the  5-HTR2A  gene has been reported. Another polymorphism in the promoter region of  5-HTR2A  (A–1438G) in linkage disequilibrium with the T102C polymorphism has also been reported. It has been suggested that the A–1438G polymorphism alters promoter activity and expression of 5-HT2A receptors and might be responsible for the associations with schizophrenia and the efficacy of atypical antipsychotics such as risperidone.

clinical chemistry and laboratory medicine

Association between T102C and A–1438G polymorphisms in the serotonin receptor 2A ( 5-HT2A ) gene and schizophrenia: relevance for treatment with antipsychotic drugs