Journal of the Korean Academy of Child and Adolescent Psychiatry

대한소아청소년정신의학회 (Korean Academy of Child and Adolescent Psychiatry)
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한국인 자폐증과 Chromosome 5p14에 존재하는 CDH9, CDH10 유전자 다형성의 연관성 연구

Polymorphisms of CDH9 and CDH10 in Chromosome 5p14 Associated with Autism in the Korean Population

  • 이애리 (차의과학대학교 의생명대학 의생명과학교실) ;
  • 박정원 (차의과학대학교 의생명대학 의생명과학교실) ;
  • 남민 (서울특별시 시립어린이병원 정신과) ;
  • 방희정 (이화여자대학교 사회과학대학 심리학과학교실) ;
  • 양재원 (고려대학교 의과대학 신경정신과학교실) ;
  • 최경식 (중부대학교 사회과학대학 유아특수교육과학교실) ;
  • 김수강 (경희대학교 의과대학 고황의학연구소) ;
  • 정주호 (경희대학교 의과대학 고황의학연구소) ;
  • 곽규범 (차의과학대학교 의생명대학 의생명과학교실)
  • Lee, Ae-Ri (Department of Biomedical Science, College of Life Science, CHA University) ;
  • Park, Jung-Won (Department of Biomedical Science, College of Life Science, CHA University) ;
  • Nam, Min (Department of Psychiatry, Seoul Metropolitan Children's Hospital) ;
  • Bang, Hee-Jung (Department of Psychology, College of Social Science, Ewha Womans University) ;
  • Yang, Jae-Won (Department of Neuropsychiatry, College of Medicine, Korea University) ;
  • Choi, Kyung-Sik (Department of Elementary Special Education, College of Social Science, Joongbu University) ;
  • Kim, Su-Kang (Kohwang Medical Research Institute, School of Medicine, Kyung Hee University) ;
  • Chung, Joo-Ho (Kohwang Medical Research Institute, School of Medicine, Kyung Hee University) ;
  • Kwack, Kyu-Bum (Department of Biomedical Science, College of Life Science, CHA University)
  • 투고 : 2010.04.18
  • 심사 : 2010.06.13
  • 발행 : 2011.12.31
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초록

Objectives : The region of chromosome 5p14 is known to be associated with autism spectrum disorder (ASD). The cadherin9 (CDH9) and cadherin10 (CDH10) genes are located in the region of chromosome 5p14 and reported to be associated with ASD in the Caucasian population. We performed an association study to identify if single nucleotide polymorphisms (SNPs) located on the CDH9 and CDH10 genes are associated in the Korean population. Methods : Genomic DNA was extracted from the blood of 214 patients with ASD and 258 controls. SNPs selected from two genes were genotyped using an Illumina Golden-Gate Genotyping assay with VeraCode technology. Statistical analysis was performed using SAS and Plink software. Results : All controls and ASD patients were in Hardy-Weinberg equilibrium. In the results of logistic regression analyses for the genotype model and the chi-square test for the allele model, we found that SNPs on the CDH9 and CDH10 genes were not associated with ASD. Conclusion : Our data suggests that the CDH9 and CDH10 genes are not associated with ASD in the Korean population.

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