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한국인 자폐스펙트럼장애와 UROC1 유전자의 연관성 분석
박정원(JungWon Park),노명자(MyungJa Ro),남민(Min Nam),방희정(Hee Jung Bang),양재원(Jae Won Yang),최경식(Kyung-Sik Choi),김수강(Su Kang Kim),정주호(Joo-Ho Chung),곽규범(KyuBum Kwack) 대한소아청소년정신의학회 2012 소아청소년정신의학 Vol.23 No.1
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® 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.