title: Catechol-O-methyltransferase Val158Met polymorphism and risk of autism spectrum disorders.
abstract: OBJECTIVE
  Autism spectrum disorders (ASD) are a family of childhood-onset neurodevelopmental disorders with complex genetic mechanisms underlying their aetiology. The aim of this case-control study was to evaluate the effect of the catechol-O-methyltransferase (COMT) gene Val158Met polymorphism on ASD risk in a Chinese Han population.
  
  
  METHODS
  The COMT gene Val158Met polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism in children (≤ 18 years old) with ASD and healthy control subjects.
  
  
  RESULTS
  The frequency of the Val158/Val158 genotype in children with ASD (22/186; 11.8%) was significantly lower than in controls (38/186; 20.4%). When stratifying by select-item scores on the Autism Diagnostic Interview-Revised protocol, it was found that children with 'current overactivity' and 'ever overactivity' had a significantly lower frequency of the Val158/Val158 genotype than those without. There were no significant associations between the COMT gene Val158Met polymorphism and ASD subtypes.
  
  
  CONCLUSIONS
  The COMT gene Val158Met polymorphism may be a biomarker for phenotypic variation in ASD, but these preliminary findings remain tentative, pending replication in larger, independent samples.
authors.affiliation: Department of Psychology, Normal College, Shenzhen University, Shenzhen, Guangdong Province, China.
authors.forename: Tianyou
authors.initials: T
authors.lastname: Guo
authors.forename: Weiqian
authors.initials: W
authors.lastname: Wang
authors.forename: Bing
authors.initials: B
authors.lastname: Liu
authors.forename: Hong
authors.initials: H
authors.lastname: Chen
authors.forename: Chuang
authors.initials: C
authors.lastname: Yang
mesh_terms: D000293:Adolescent; D044466:Asian People; D016022:Case-Control Studies; D002394:Catechol O-Methyltransferase / Q000235:genetics*; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide
chemical_list: D002394:Catechol O-Methyltransferase
keywords:    COMT gene; Catechol-O-methyltransferase; autism; gene polymorphism