Association between PTGS2 polymorphism and autism spectrum disorders in Korean trios.
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.
Yoo
Hee Jeong
HJ
Department of Psychiatry, Seoul National University Bundang Hospital, Seongnam, Kyeonggi, Republic of Korea.
Cho
In Hee
IH
Park
Mira
M
Cho
Eunchung
E
Cho
Soo Churl
SC
Kim
Bung Nyun
BN
Kim
Jae Won
JW
Kim
Soon Ae
SA
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
D005819:Genetic Markers; D051546:Cyclooxygenase 2; C496540:PTGS2 protein, human