This study investigated the influence of the polymorphism of the serotonin transporter gene (SLC6A4, a 44 base pair insertion/deletion in the promoter region, 5- HTTLPR) on the development of schizophrenia, as well as its effect on the symptomatology, family history, age of onset and the antipsychotic treatment response. Genomic DNA analysis with polymerase chain reaction was used for the genotyping. One hundred and fifty-two patients with schizophrenia and 152 normal controls participated in the study. Any associations between the 5-HTTLPR polymorphism and schizophrenia were not found. However, marginal association between the subjects with the 5-HTTLPR s allele (ss plus sl) and the presence of a family history of schizophrenia was found (p=0.026). This study suggests that the 5-HTTLPR polymorphism does not significantly contribute to the susceptibility to schizophrenia, and it is not associated with such clinical variables as the antipsychotic treatment response and the psychopathologica features, except for the family history of disease, at least in the Korean population.
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