title: 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.
authors.affiliation: Department of Psychiatry, Seoul National University Bundang Hospital, Seongnam, Kyeonggi, Republic of Korea.
authors.forename: Hee Jeong
authors.initials: HJ
authors.lastname: Yoo
authors.forename: In Hee
authors.initials: IH
authors.lastname: Cho
authors.forename: Mira
authors.initials: M
authors.lastname: Park
authors.forename: Eunchung
authors.initials: E
authors.lastname: Cho
authors.forename: Soo Churl
authors.initials: SC
authors.lastname: Cho
authors.forename: Bung Nyun
authors.initials: BN
authors.lastname: Kim
authors.forename: Jae Won
authors.initials: JW
authors.lastname: Kim
authors.forename: Soon Ae
authors.initials: SA
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000201:enzymology* / Q000208:ethnology / Q000235:genetics*; D001921:Brain / Q000201:enzymology* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D051546:Cyclooxygenase 2 / Q000096:biosynthesis* / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007723:Korea / Q000208:ethnology; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D010290:Parents; D011110:Polymorphism, Genetic / Q000235:genetics*; D012919:Social Behavior; D012920:Social Behavior Disorders / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology
chemical_list: D005819:Genetic Markers; D051546:Cyclooxygenase 2; C496540:PTGS2 protein, human