Korean Journal of Biological Psychiatry (생물정신의학)

The Korean Society of Biological Psychiatry (대한생물정신의학회)
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No Association Study of SLC6A4 Polymorphisms with Korean Autism Spectrum Disorder

한국인 자폐스펙트럼장애와 SLC6A4 유전다형성의 연관 연구

  • Yoo, Hee Jeong (Department of Psychiatry, Seoul National University Bundang Hospital) ;
  • Cho, In Hee (Department of Neuropsychiatry, Gachon Medical School) ;
  • Park, Mira (Department of Preventive Medicine, School of Medicine, Eulji University) ;
  • Yang, So Young (Department of Pharmacology, School of Medicine, Eulji University) ;
  • Kim, Soon Ae (Department of Pharmacology, School of Medicine, Eulji University)
  • 유희정 (분당서울대학교병원 정신과) ;
  • 조인희 (가천의과대학교 길병원 정신과학교실) ;
  • 박미라 (을지대학교 의과대학 예방의학교실) ;
  • 양소영 (을지대학교 의과대학 약리학교실) ;
  • 김순애 (을지대학교 의과대학 약리학교실)
  • Published : 2009.05.31
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Abstract

Objectives : The serotonin transporter gene(SLC6A4) is one of the most widely studied candidate genes in autism spectrum disorder(ASD), but there have been conflicting results from studies into the association between SLC6A4 and ASD. The aim of this study was to evaluate the association between single nucleotide polymorphisms(SNPs) in the SLC6A4 gene and ASD in the Korean population. Methods : We selected 12 SNPs in SLC6A4 and observed the genotype of 151 Korean ASD trios. We tested the family-based association for each individual polymorphism and haplotype by using the standard TDT method in Haploview(http://www.broad.mit.edu/mpg/haploview/). Results : Through transmission-disequilibrium testing and haplotype analysis, we could not find any statistically significant transmitted allele or haplotype. In addition, a case-control association test with Korean HapMap data did not reveal any statistical significance. Conclusion : Although serotonin-related genes must be considered candidate genes for ASD, we suggest that common SNPs of SLC6A4 are not important markers for associations with Korean ASD.

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