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Published on: October 3, 2018
Genome-wide association scan of korean autism spectrum disorders with language delay: a preliminary study
Soo-Churl Cho1, Hee Jeong Yoo, Mira Park
1Department of Child and Adolescent Psychiatry, College of Medicine, Seoul National University Hospital, Seoul, Korea.
Objective:
Communication problems are a prevalent symptom of autism spectrum disorders (ASDs), which have a genetic background. Although several genome-wide studies on ASD have suggested a number of candidate genes, few studies have reported the association or linkage of specific endophenotypes to ASDs.
Methods:
Forty-two Korean ASD patients who showed a language delay were enrolled in this study with their parents. We performed a genome-wide scan by using the Affymetrix SNP Array 5.0 platform to identify candidate genes responsible for language delay in ASDs.
Results:
We detected candidate single-nucleotide polymorphisms (SNPs) in chromosome 11, rs11212733 (p-value=9.76×10(-6)) and rs7125479 (p-value=1.48×10(-4)), as a marker of language delay in ASD using the transmission disequilibrium test and multifactor dimensionality reduction test.
Conclusion:
Although our results suggest that several SNPs are associated with language delay in ASD, rs11212733 we were not able to observe any significant results after correction of multiple comparisons. This may imply that more samples may be required to identify genes associated with language delay in ASD.
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01:19Autism Spectrum Disorder
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
01:11Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...