Journal of the Korean Academy of Child and Adolescent Psychiatry

대한소아청소년정신의학회 (Korean Academy of Child and Adolescent Psychiatry)
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한국인 남성에서 자폐스펙트럼장애와 DLX6 유전자 단일염기다형성간 연관성 연구

No Association Between Single Nucleotide Polymorphisms in Distal-Less Homeobox-6 (DLX6) and Autism Spectrum Disorders (ASD) from the Korean Male Population

  • 김현근 (차의과대학교 의학유전체교실) ;
  • 원성식 (차의과대학교 의학유전체교실) ;
  • 이승구 (차의과대학교 의학유전체교실) ;
  • 남민 (이화여자대학교 심리학교실) ;
  • 방희정 (이화여자대학교 심리학교실) ;
  • 박현정 (이화여자대학교 심리학교실) ;
  • 윤진영 (이화여자대학교 심리학교실) ;
  • 최경식 (중부대학교 유아특수교육과) ;
  • 홍미숙 (경희대학교 약리학교실/고황의학연구소) ;
  • 정주호 (경희대학교 약리학교실/고황의학연구소) ;
  • 곽규범 (차의과대학교 의학유전체교실)
  • Kim, Hyoun-Geun (Medical Genomics Lab, CHA Research Institute, CHA University) ;
  • Won, Seong-Sik (Medical Genomics Lab, CHA Research Institute, CHA University) ;
  • Lee, Seung-Ku (Medical Genomics Lab, CHA Research Institute, CHA University) ;
  • Nam, Min (Department of Psychology, Ewha Womans University) ;
  • Bang, Hee-Jung (Department of Psychology, Ewha Womans University) ;
  • Park, Hyun-Jung (Department of Psychology, Ewha Womans University) ;
  • Yoon, Jin-Young (Department of Psychology, Ewha Womans University) ;
  • Choi, Kyung-Sik (Department of Elementary Special Education, College of Social Science, Joongbu University) ;
  • Hong, Mee-Sook (Department of Pharmacology, Kohwang Medical Research Institute, Kyung Hee University) ;
  • Chung, Joo-Ho (Department of Pharmacology, Kohwang Medical Research Institute, Kyung Hee University) ;
  • Kwack, Kyu-Bum (Medical Genomics Lab, CHA Research Institute, CHA University)
  • 투고 : 2009.11.03
  • 심사 : 2010.01.04
  • 발행 : 2010.03.30
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초록

Objectives ： Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is characterized by abnormalities of social functioning, communication and behavior. The association of the 7q21-34 region with ASD has been reported. The DLX6 gene, which is located at the 7q22 region, is one of the positional and functional candidate genes for ASD. We found that there is no association between DLX6 polymorphisms and ASD in the Korean male population. Methods ： We selected three single nucleotide polymorphisms (SNPs) that might be implicated in the change of the DLX6 gene expression. The genomic DNA was collected from the venous blood of 147 male controls and 179 male patients with ASD. The genotypes of the selected SNPs were determined using the Illumina GoldenGate assay, and the statistical analyses were performed using HapAnalyzer software and SAS Enterprise. Results ： We found no association of the three SNPs in the DLX6 gene with ASD in the Korean male population. Conclusion ： Our study suggests that the three SNPs in the DLX6 gene are not associated with ASD, and we need to analyze the previously reported regions for their associations with ASD.

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