title: The NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene variants are associated with autism.
abstract: OBJECTIVE
  Autism appears to have a strong genetic component. The product of the NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene is included in the mitochondrial electron transport chain.
  
  
  METHODS
  We performed a case-control study of 235 patients with autism and 214 controls and examined three single-nucleotide polymorphisms (SNPs) within this gene in a Japanese population. We then conducted a transmission disequilibrium test (TDT) analysis in 148 autistic trios.
  
  
  RESULTS
  In the case-control study, two SNPs (rs12666974 and rs3779262) showed a significant association with autism (P=0.00064 and 0.00046 respectively). Furthermore, a haplotype containing these two SNPs showed a significant association (P-global=0.0013, individual haplotype A-A: P=0.010). In TDT analysis, the global and A-A haplotype P-values also indicated significant associations. Minor allele and genotype frequencies were decreased in the autistic subjects.
  
  
  CONCLUSIONS
  We found significant association between the NDFA5 gene and autism.
authors.affiliation: Department of Neuropsychiatry, Graduate School of Medicine, University of Tokyo, Tokyo, Japan. PXX03135@nifty.ne.jp
authors.forename: T
authors.initials: T
authors.lastname: Marui
authors.forename: I
authors.initials: I
authors.lastname: Funatogawa
authors.forename: S
authors.initials: S
authors.lastname: Koishi
authors.forename: K
authors.initials: K
authors.lastname: Yamamoto
authors.forename: H
authors.initials: H
authors.lastname: Matsumoto
authors.forename: O
authors.initials: O
authors.lastname: Hashimoto
authors.forename: S
authors.initials: S
authors.lastname: Jinde
authors.forename: H
authors.initials: H
authors.lastname: Nishida
authors.forename: T
authors.initials: T
authors.lastname: Sugiyama
authors.forename: K
authors.initials: K
authors.lastname: Kasai
authors.forename: K
authors.initials: K
authors.lastname: Watanabe
authors.forename: Y
authors.initials: Y
authors.lastname: Kano
authors.forename: N
authors.initials: N
authors.lastname: Kato
mesh_terms: D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D056726:Genetic Association Studies; D008040:Genetic Linkage / Q000235:genetics; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D009245:NADH Dehydrogenase / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D055815:Young Adult
chemical_list: C508060:NDUFA5 protein, human; D009245:NADH Dehydrogenase