Positive association between the mesoderm specific transcript gene and autism spectrum disorder in a Korean male population

Abstract

Autism spectrum disorder (ASD) is a neuro‐developmental disorder characterized by abnormalities in social, communication, and behavioral functioning. Associations between several markers in this region and ASD have been previously reported. MEST and COPG2 genes on 7q32 are logical candidate genes in this respect. In the present study, we identified associations between ASD and two adjacent genes (MEST and COPG2) in 7q32. We selected 25 single nucleotide polymorphisms (SNPs) that might be involved in expressional changes in candidate genes. Genomic DNA was collected from the venous blood samples of 147 male normal controls and 180 male Korean autism spectrum disorder patients. Genotypes of the selected SNPs were determined using Illumina Sentrix Array Matrix chips, and statistical analyses were performed using Haploview software and SAS. One SNP in the MEST gene and one haplotype involving the MEST and COPG2 genes were found to be significantly associated with ASD (both p< 0.05). ASD was found to be associated with a polymorphism in MEST, which suggests that alterations in expression of this gene may be linked to ASD susceptibility.