Family-based association study between GRIK2 polymorphisms and autism spectrum disorders in the Korean trios
Abstract
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with strong genetic components. The present study comprises the detection of four single nucleotide polymorphisms (SNPs) in GRIK2 followed by a family-based association analysis of the SNPs in 126 Korean ASD trios by using the transmission disequilibrium test (TDT) and haplotype analysis. We found preferential transmission of the C allele at the rs3213607 (P<0.001) of GRIK2 in ASD and haplotype analysis revealed that one haplotype demonstrated a significant association (P=0.023). These results suggest a potential association between GRIK2 and ASD in the Korean population.
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Genetic studies have found positive associations between autism and polymorphisms in glutamate receptors and transporters, including SLC25A12 and GRIK2.
“Genetic studies have found positive associations between autism and a number of polymorphisms in glutamate receptors and transporters including the mitochondrial aspartate-glutamate carrier (SLC25A12) [151] and glutamate receptor, ionotropic kainate 2 (GRIK2) [152, 153].”
From Consensus Paper: Pathological Role of the Cerebellum in Autism (2012) · cites this paper as [153]
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- Authors
- Kim, S. A., Kim, J. H., Park, M., Cho, I. H., & Yoo, H. J.
- Affiliations
- Eulji University (KR)
- Seoul National University Bundang Hospital (KR)
- Corresponding author
- Yoo, Hee Jeong
- Venue
- Neuroscience Research
- Publisher
- Elsevier BV
- Published
- 2007-07
- Volume
- 58
- Issue
- 3
- Pages
- 332-335
- ISSN
- 0168-0102 (ISSN-L)
- OpenAlex
- W1971926009
- Cited by
- 49
- References
- 21
- Citations by year
- 2025: 3 · 2023: 1 · 2021: 2 · 2019: 2 · 2016: 1 · 2015: 2 · 2014: 4 · 2013: 2 · 2012: 6
- FWCI
- 3.00
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neuroscience Research (publishedVersion)
- PubMed (publishedVersion)
- Seoul National University Open Repository (Seoul National University) (submittedVersion)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- autism spectrum disorder, GRIK2, single nucleotide polymorphisms, family-based association, transmission disequilibrium test, haplotype analysis, genetic susceptibility
- MeSH terms
- GluK2 Kainate Receptor, Adolescent, Autistic Disorder, Child, Child, Preschool, Family Health, Female, Gene Frequency, Genotype, Humans, Korea, Male, Linkage Disequilibrium, Kainic Acid Receptors, Polymorphism, Single Nucleotide
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