연구목적: 도파민 D3 수용체 유전자 (DRD3)와 세로토닌 5-HT2a 수용체 유전자 (5-HT2aR)의 유전적 다형성 분석을 하여 정신분열병과 이들 유전자와의 상관성 여부를 확인하고자 유전학적 연구를 시행하였다. 방법: 각각 100명의 정신분열병 환자 및 정상 대조군을 대상으로 말초혈로부터 genomic DNA를 분리하여 DRD3와 5-HT2aR 유전자에 각각 특이 primer를 사용하여 중합효소연쇄반응 (polymerase chain reaction : PCR)을 실시하였다. 증폭한 유전자를 각기 제한효소 절편분석반응을 시행하여 유전자의 유전적 다형성 분석을 시행하였으며 이렇게 분류된 유전자형을 환자군과 정상 대조군에서 상호 비교하기 위하여 통계 분석하였다. 결과: 증폭한 DRD3 유전자를 MscI 제한효소로 절단하여 절편분석을 하였을 때 304 bp의 band를 보인 군 (-/-), 304 bp, 206 bp 및 98 bp의 세 개의 band를 보인 군 (+/-), 그리고 206 bp와 98 bp의 두 개 band를 보인 군 (+/+)이 각각 정신분열병 환자군에서 47명, 45명, 8명이었고 정상 대조군에서는 61명, 34명, 5명으로서 두 군간에 통계적으로 유의한 차이는 없었다 (P=0.132). 5-HT2aR 유전자의 MspI 제한효소 다형성 분석에서도 372 bp (-/-), 372 bp, 216 bp와 156 bp (+/-), 그리고 216 bp와 156 bp (+/+)를 보이는 경우가 정신분열병 환자군과 정상 대조군에서 각각 33명, 48명, 19명과 35명, 48명, 17명으로 두 군 사이에 통계적 유의성을 보이지 않았다 (P=0.918). 결론: 본 연구결과는 한국인에 있어서 DRD3 유전자와 5-HT2aR 유전자는 정신분열병의 원인이 아닐 가능성을 제시한다.

Background: Previous family, twin and adoption studies suggested that genetic factors play a major role in the etiology of schizophrenia. However, the mode of inheritance, like that of other common disorders, is complex and it is generally believed that more than one gene is involved in the genetics of schizophrenia. In the present study, the authors examined 100 unrelated Korean schizophrenics and 100 Korean normal controls, all belonging to a single ethnic population, to determine any association between genetic polymorphisms in the dopamine D3 receptor (DRD3) gene and the 5-hydroxytryptamine type 2a receptor (5-HT2aR) gene and schizophrenia. Methods: High molecular weight genomic DNA was extracted from whole blood of 100 schizophrenics and 100 age - and sex - matched healthy controls. The MscI polymorphism of DRD3 gene and the MspI of 5-HT2aR gene were typed by restriction enzyme digestion after amplification of genomic DNA by polymerase chain reaction. Genotypic distributions were analyzed using the χ2 test. Results: With regard to MscI/DRD3 gene polymorphism, the presence of 304 bp band denoted a (-/-) homozygote, 3 bands at 304 bp, 206 bp, and 98 bp, a (+/-) heterozygote, and 2 bands at 206 bp and 98 bp, a (+/+) homozygote. In MspI/5-HT2aR gene polymorphism, a (-/-) homozygote with a 372 bp, a (+/-) heterozygote with 3 bands of 372 bp, 216 bp, and 156 bp, a (+/+) homozygote with 2 bands of 216 bp and 156 bp were identified. No significant positive association between either the DRD3 genotype or the 5-HT2aR genotype and schizophrenia was observed. Conclusion: Significant association was not observed between schizophrenia and any of the two polymorphisms at the DRD3 gene and the 5-HT2aR gene. The results suggest that the DRD3 and 5-HT2aR polymorphisms may not be involved in the genetic susceptibility to the Korean schizophrenics.

Background: Previous family, twin and adoption studies suggested that genetic factors play a major role in the etiology of schizophrenia. However, the mode of inheritance, like that of other common disorders, is complex and it is generally believed that more than one gene is involved in the genetics of schizophrenia. In the present study, the authors examined 100 unrelated Korean schizophrenics and 100 Korean normal controls, all belonging to a single ethnic population, to determine any association between genetic polymorphisms in the dopamine D3 receptor (DRD3) gene and the 5-hydroxytryptamine type 2a receptor (5-HT2aR) gene and schizophrenia. Methods: High molecular weight genomic DNA was extracted from whole blood of 100 schizophrenics and 100 age - and sex - matched healthy controls. The MscI polymorphism of DRD3 gene and the MspI of 5-HT2aR gene were typed by restriction enzyme digestion after amplification of genomic DNA by polymerase chain reaction. Genotypic distributions were analyzed using the χ2 test. Results: With regard to MscI/DRD3 gene polymorphism, the presence of 304 bp band denoted a (-/-) homozygote, 3 bands at 304 bp, 206 bp, and 98 bp, a (+/-) heterozygote, and 2 bands at 206 bp and 98 bp, a (+/+) homozygote. In MspI/5-HT2aR gene polymorphism, a (-/-) homozygote with a 372 bp, a (+/-) heterozygote with 3 bands of 372 bp, 216 bp, and 156 bp, a (+/+) homozygote with 2 bands of 216 bp and 156 bp were identified. No significant positive association between either the DRD3 genotype or the 5-HT2aR genotype and schizophrenia was observed. Conclusion: Significant association was not observed between schizophrenia and any of the two polymorphisms at the DRD3 gene and the 5-HT2aR gene. The results suggest that the DRD3 and 5-HT2aR polymorphisms may not be involved in the genetic susceptibility to the Korean schizophrenics.

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Dopamine D3 receptor gene, 5-hydroxytryptamine type 2a receptor gene, schizophrenia, association study, genetic polymorphism, candidate gene