Year: 2012
Type: article
Study design: Observational Study
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.
Source: Psychiatric Genetics
Authors: Claudio Toma, Amaia Hervás, Bàrbara Torrico, Noemí Balmaña, Marta Salgado, Marta Maristany, Elisabet Vilella, Rafael Martínez-Leal, Ma Inmaculada Planelles, Ivon Cuscó, Miguel del Campo, Luis A. Pérez-Jurado, Rafaela Caballero-Andaluz, Yolanda de Diego-Otero, Lucía Pérez-Costillas, Josep A. Ramos-Quiroga, Marta Ribasés, Mònica Bayés, Bru Cormand
Institutions: Centre for Biomedical Network Research on Rare Diseases, Universitat de Barcelona, University Hospital Mútua de Terrassa, Hospital Sant Joan de Déu Barcelona, Institut Pere Mata, Institut de Recerca Biomèdica Catalunya Sud, Universitat Rovira i Virgili, Universitat Pompeu Fabra, Vall d'Hebron Hospital Universitari, Universidad de Sevilla, Instituto de Investigación Biomédica de Málaga, Universidad de Málaga, Universitat Autònoma de Barcelona, Centro de Investigación Biomédica en Red de Salud Mental, Vall d'Hebron Institut de Recerca, Centro Nacional de Análisis Genómico, Parc Científic de Barcelona, Institut de Biomedicina de la Universitat de Barcelona
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2091117169