Association between PTGS2 polymorphism and autism spectrum disorders in Korean trios

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.