Abstract
Cyclooxygenase-2 (Cox-2) is an inducible enzyme involved in neuroplasticity and the neuropathology of the central nervous system. This study evaluated the relationship between autism spectrum disorders (ASDs) and polymorphisms of PTGS2 (the gene encoding Cox-2) with 151 Korean family trios including children with ASDs. We found that the A allele of rs2745557 was preferentially transmitted in ASDs (p < 0.01) and that the GAAA haplotype was significantly associated with ASDs (p < 0.01). We also observed statistically significant associations between each genotype and the specific symptom domain scores of ADOS and ADI-R, including communication, qualitative abnormalities in reciprocal social interaction, and overactivity/agitation.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Autistic Disorder / enzymology*
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Autistic Disorder / ethnology
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Autistic Disorder / genetics*
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Brain / enzymology*
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Brain / physiopathology
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Child
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Child, Preschool
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Cyclooxygenase 2 / biosynthesis*
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Cyclooxygenase 2 / genetics
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DNA Mutational Analysis
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Female
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Gene Frequency
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Genetic Markers / genetics
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Genetic Predisposition to Disease / genetics
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Genetic Testing
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Genotype
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Haplotypes
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Humans
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Korea / ethnology
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Linkage Disequilibrium / genetics
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Male
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Parents
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Polymorphism, Genetic / genetics*
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Social Behavior
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Social Behavior Disorders / enzymology
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Social Behavior Disorders / genetics
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Social Behavior Disorders / physiopathology
Substances
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Genetic Markers
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Cyclooxygenase 2
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PTGS2 protein, human