Journal of the Korean Academy of Child and Adolescent Psychiatry

Korean Academy of Child and Adolescent Psychiatry (대한소아청소년정신의학회)
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Family-Based Association Study of Tryptophan-2,3 Dioxygenase(TDO2) Gene and Autism Spectrum Disorder in the Korean Population

한국인 자폐 스펙트럼장애에서 Tryptophan 2,3 Dioxygenase(TDO2)유전자 다형성-가족 기반 연구

  • Kim, Soon-Ae (Department of Pharmacology, School of Medicine, Eulji University) ;
  • Park, Mi-Ra (Department of Premedicine, School of Medicine, Eulji University) ;
  • Cho, In-Hee (Department of Psychiatry, Gachon University of Medicine and Science) ;
  • Yoo, Hee-Jeong (Department of Psychiatry, Seoul National University College of Medicine, Seoul National University Bundang Hospital)
  • 김순애 (을지대학교 의과대학 약리학교실) ;
  • 박미라 (을지대학교 의과대학 의예과) ;
  • 조인희 (가천의과대학교 정신과학교실) ;
  • 유희정 (서울대학교 의과대학 분당서울대학교병원 정신과학교실)
  • Published : 2007.10.30
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Abstract

Objectives: Autism is a complex neurodevelopmental spectrum disorder with a strong genetic component. Previous neurochemical and genetic studies have suggested the possible involvement of the serotonin system in autism. Tryptophan 2,3-dioxygenase(TDO2) is the rate-limiting enzyme in the catabolism of tryptophan, which is the precursor of serotonin synthesis. The aim of this study was to investigate the association between the TDO2 gene and autism spectrum disorders(ASD) in a Korean population. Methods: The patients were diagnosed with ASD on the basis of the DSM-IV diagnostic classification outlined in the Korean version of the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule. The present study included the detection of four single nucleotide polymorphisms(SNPs) in the TDO2 gene(rs2292536, rs6856558, rs6830072, rs6830800) and the family-based association analysis of the single nucleotide polymorphisms in Korean ASD trios using a transmission disequilibrium test(TDT) and haplotype analysis. The family trios of 136 probands were included in analysis. 87.5% were male and 86.0% were diagnosed with autism. The mean age of the probands was $78.5{\pm}35.8$ months(range: 26-264 months). Results: Two SNPs showed no polymorphism, and there was no significant difference in transmission in the other two SNPs. We also could not find any significant transmission in the haplotype analysis(p>.05). Conclusion: We could not find any significant statistical association between the transmission of SNPs in the TDO2 gene and ASD in a Korean population. This result may not support the possible involvement of the TDO2 gene in the development of ASD, and further exploration might be needed to investigate other plausible SNP sites.

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