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Positive association between the mesoderm specific transcript gene and autism spectrum disorder in a Korean male population
Author(s) -
Kwack KyuBum,
Lee Seung Ku,
Kim Minho,
Nam Min,
Bang Hee Jung,
Yang Jae Won,
Choe KyongSik,
Kim Su Kang,
Hong Mee Suk,
Chung JooHo,
Kim Hyoun Geun
Publication year - 2008
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.22.1_supplement.906.8
Subject(s) - autism spectrum disorder , single nucleotide polymorphism , genetics , haplotype , candidate gene , autism , heritability of autism , biology , snp , gene , genotype , medicine , psychiatry , phenotype
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.