Analysis of ten candidate genes in autism by association and linkage

Authors


  • Paris Autism Research International Sibpair Study: Sweden. Department of Child and Adolescent Psychiatry, Göteborg University, Göteborg: Christopher Gillberg, Maria Råstam, Carina Gillberg, Agneta Nydén. France. Consultation spécialisée pour l'autisme infantile, Hôpital Robert Debré, Paris: Marion Leboyer, Manuel Bouvard, Anne Philippe, Nadia Chabane and Marie-Christine Mouren-Simeoni; Service universitaire d'Explorations Fonctionnelles et Neurophysiologie en Pédopsychiatrie, Hôpital Bretonneau, Tours: Catherine Barthélemy. Norway. National Centre for Child and Adolescent Psychiatry, University of Oslo, Oslo: Eili Sponheim, Ingrid Spurkland; Department of Pediatrics, Rikshospitalet, University of Oslo, Oslo: Ola H. Skjeldal. USA. Department of Pediatrics, Georgetown University School of Medicine, Washington D.C.: Mary Coleman; Children's National Medical Center, George Washington University School of Medicine, Washington, D.C.: Philip L. Pearl; New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York: Ira L. Cohen, John Tsiouris. Italy. Divisione di Neuropsichiatria Infantile, Azienda Ospedaliera Senese, Siena: Michele Zappella, Grazia Menchetti, Alfonso Pompella. Austria. Department of General Psychiatry, University Hospital, Vienna: Harald Aschauer.

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. © 2002 Wiley-Liss, Inc.

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