Polymorphism of CTLA-4 gene at position 49 of exon 1 may be associated with schizophrenia in the Korean population.

This study was carried out to investigate the association of a polymorphism of the CTLA-4 gene, at position 49 of exon 1, with schizophrenia in the Korean population. Among Korean patients diagnosed with schizophrenia according to DSM-IV, 116 patients who met the selection criteria were recruited for the study. One hundred and forty-nine normal healthy Koreans from the Catholic Hemopoietic Stem Cell Information Bank, were used as a normal control group. DNA was extracted from whole blood using proteinase K and the CTLA-4 gene region was amplified by polymerase chain reaction. Geneo typing was performed by single strand conformation polymorphism (SSCP). The genotype and allele distribution in patients with schizophrenia was significantly different from that seen in the control group. This study suggests a putative role of the CTLA-4 gene polymorphism at position 49 of exon 1 for schizophrenia in the Korean population, although the detailed mechanisms remained to be elucidated.