J Korean Acad Child Adolesc Psychiatry.  2010 Feb;21(1):17-22.

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

• Kim HG
• Won S
• Lee SK
• Nam M
• Bang HJ
• Park HJ
• Yoon JY
• Choi KS
• Hong MS
• Chung JH
• Kwack KB

Abstract

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.

Keyword

Autism Spectrum Disorders; ASD; DLX6; SNP

MeSH Terms

Autistic Disorder
Child
Autism Spectrum Disorder
DNA
Gene Expression
Genotype
Humans
Male
Phenothiazines
Polymorphism, Single Nucleotide
DNA
Phenothiazines