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.
3' Untranslated Regions ; Autistic Disorder ; Child ; Autism Spectrum Disorder ; Exons ; Humans ; Intellectual Disability ; Introns ; Phenothiazines ; Polymorphism, Single Nucleotide ; Urocanate Hydratase