title: Analysis of two language-related genes in autism:  a case-control association study of FOXP2 and CNTNAP2.
abstract: Impairment of language abilities is a common feature in autistic individuals. Heterozygous mutations in the Forkhead Box P2 (FOXP2) gene lead to a severe spoken language disorder. Recently, several studies have pinpointed the involvement of common variants of the Contactin-Associated Protein-Like 2 (CNTNAP2) gene, whose transcription is regulated by the product of FOXP2, in several disorders characterized by language impairments such as autism, specific language impairment (SLI), and selective mutism (SM). In the present study, common variants of the FOXP2 and the CNTNAP2 genes were analyzed through a case-control association study in 322 Spanish autistic patients and 524 controls. The results of this study suggest that common variants of FOXP2 are unlikely to contribute to autism susceptibility, in agreement with previous findings. Furthermore, we failed to replicate in our sample a previous association finding of two single nucleotide polymorphisms (rs2710102 and rs7794745) in the CNTNAP2 gene with autism. No evidence for the association of these genes with language traits was observed in our analysis.
authors.affiliation: Department of Genetics, Faculty of Biology, University of Barcelona, Barcelona, Spain.
authors.forename: Claudio
authors.initials: C
authors.lastname: Toma
authors.forename: Amaia
authors.initials: A
authors.lastname: Hervás
authors.forename: Bàrbara
authors.initials: B
authors.lastname: Torrico
authors.forename: Noemí
authors.initials: N
authors.lastname: Balmaña
authors.forename: Marta
authors.initials: M
authors.lastname: Salgado
authors.forename: Marta
authors.initials: M
authors.lastname: Maristany
authors.forename: Elisabet
authors.initials: E
authors.lastname: Vilella
authors.forename: Rafael
authors.initials: R
authors.lastname: Martínez-Leal
authors.forename: Ma Inmaculada
authors.initials: MI
authors.lastname: Planelles
authors.forename: Ivon
authors.initials: I
authors.lastname: Cuscó
authors.forename: Miguel
authors.initials: M
authors.lastname: del Campo
authors.forename: Luis A
authors.initials: LA
authors.lastname: Pérez-Jurado
authors.forename: Rafaela
authors.initials: R
authors.lastname: Caballero-Andaluz
authors.forename: Yolanda
authors.initials: Y
authors.lastname: de Diego-Otero
authors.forename: Lucía
authors.initials: L
authors.lastname: Pérez-Costillas
authors.forename: Josep A
authors.initials: JA
authors.lastname: Ramos-Quiroga
authors.forename: Marta
authors.initials: M
authors.lastname: Ribasés
authors.forename: Mònica
authors.initials: M
authors.lastname: Bayés
authors.forename: Bru
authors.initials: B
authors.lastname: Cormand
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D056726:Genetic Association Studies; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D007802:Language; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D013030:Spain
chemical_list: C403049:CNTNAP2 protein, human; C465448:FOXP2 protein, human; D051858:Forkhead Transcription Factors; D005819:Genetic Markers; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins