Journal of the Korean Academy of Child and Adolescent Psychiatry

Korean Academy of Child and Adolescent Psychiatry (대한소아청소년정신의학회)
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No Association between Single Nucleotide Polymorphisms in Urocanase Domain Containing 1 (UROC1) and Autism Spectrum Disorders (ASDs) in the Korean Population

한국인 자폐스펙트럼장애와 UROC1 유전자의 연관성 분석

  • Park, Jung-Won (Department of Biomedical Science, College of Life Science, CHA University) ;
  • Ro, Myung-Ja (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 Psychiatry, 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)
  • 박정원 (CHA의과학대학교 의생명대학 의생명과학교실) ;
  • 노명자 (CHA의과학대학교 의생명대학 의생명과학교실) ;
  • 남민 (서울특별시 시립어린이병원 정신건강의학과) ;
  • 방희정 (이화여자대학교 사회과학대학 심리학교실) ;
  • 양재원 (고려대학교 의과대학 정신건강의학교실) ;
  • 최경식 (중부대학교 사회과학대학 유아특수교육학교실) ;
  • 김수강 (경희대학교 의과대학 고황의학연구소) ;
  • 정주호 (경희대학교 의과대학 고황의학연구소) ;
  • 곽규범 (CHA의과학대학교 의생명대학 의생명과학교실)
  • Received : 2011.10.17
  • Accepted : 2011.12.15
  • Published : 2012.03.31
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Abstract

Objectives : Urocanase domain containing 1 (UROC1) has never been studied in prior studies on autism spectrum disorders (ASDs). UROC1 causes urocanic aciduria, one of the symptoms of which is mental retardation. The aim of this study was to investigate the association between the UROC1 gene and ASDs in a Korean population. Methods : A total of 258 control and 214 patients with ASD were used as subjects of this study. SNPs selected from UROC1 were genotyped using Illumina Golden-Gate Genotyping assay with VeraCode$^{(R)}$ technology. Statistical analysis was performed using SAS and Plink software. Results : We found no association of the 12 SNPs in the UROC1 gene with ASDs in a Korean population. Conclusion : Our study suggests that the 12 SNPs (11 SNPs and 1 SNP in the intron and 3'UTR region, respectively) in the UROC1 were not associated with ASDs in a Korean population. Further study on the exon region of UROC1 is needed.

Keywords

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