title: Analysis of ten candidate genes in autism by association and linkage.
abstract: We studied the possible involvement of ten candidate genes in autism: proenkephalin, prodynorphin, and proprotein convertase subtilisin/kexin type 2 (opioid metabolism); tyrosine hydroxylase, dopamine receptors D2 and D5, monoamine oxidases A and B (monoaminergic system); brain-derived neurotrophic factor, and neural cell adhesion molecule (involved in neurodevelopment). Thirty-eight families with two affected siblings and one family with two affected half-siblings, recruited by the Paris Autism Research International Sibpair Study (PARIS), were tested using the transmission disequilibrium test and two-point affected sib-pair linkage analysis. We found no evidence for association or linkage with intragenic or linked markers. Our family sample has good power for detecting a linkage disequilibrium of 0.80. Thus, these genes are unlikely to play a major role in the families studied, but further studies in a much larger sample would be needed to highlight weaker genetic effects.
authors.affiliation: INSERM U 513, Hôpital Henri Mondor, Créteil, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Philippe
authors.forename: Michel
authors.initials: M
authors.lastname: Guilloud-Bataille
authors.forename: Maria
authors.initials: M
authors.lastname: Martinez
authors.forename: Christopher
authors.initials: C
authors.lastname: Gillberg
authors.forename: Maria
authors.initials: M
authors.lastname: Råstam
authors.forename: Eili
authors.initials: E
authors.lastname: Sponheim
authors.forename: Mary
authors.initials: M
authors.lastname: Coleman
authors.forename: Michele
authors.initials: M
authors.lastname: Zappella
authors.forename: Harald
authors.initials: H
authors.lastname: Aschauer
authors.forename: Christiane
authors.initials: C
authors.lastname: Penet
authors.forename: Josué
authors.initials: J
authors.lastname: Feingold
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Marion
authors.initials: M
authors.lastname: Leboyer
mesh_terms: D000483:Alleles; D001321:Autistic Disorder / Q000235:genetics*; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D018895:Microsatellite Repeats; D008995:Monoamine Oxidase / Q000235:genetics; D009679:Nuclear Family; D011954:Receptors, Dopamine / Q000235:genetics; D014446:Tyrosine 3-Monooxygenase / Q000235:genetics
chemical_list: D011954:Receptors, Dopamine; D004247:DNA; D014446:Tyrosine 3-Monooxygenase; D008995:Monoamine Oxidase