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Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2

Authors: Toma, Claudio; Hervas, Amaia; Torrico, Barbara; Balmana, Noemi; Salgado, Marta; Maristany, Marta; Vilella, Elisabet; Martinez-Leal, Rafael; Planelles, Ma Inmaculada; Cusco, Ivon; del Campo, Miguel; Perez-Jurado, Luis A; Caballero-Andaluz, Rafaela; de Diego-Otero, Yolanda; Perez-Costillas, Lucia; Ramos-Quiroga, Josep A; Ribases, Marta; Bayes, Monica; Cormand, Bru;

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.

Keywords

Male, Medicina ii, Biotecnología, Adolescent, Autism, Nutrição, Medicina i, Case-control studies, Cntnap2, Biological psychiatry, Genetics, Humans, Casecontrol association study, Genetics (clinical), Language, Genetics & heredity, Neurosciences, Enfermagem, Interdisciplinar, Engenharias iv, Saúde coletiva, Antropologia / arqueologia, Psychiatry and mental health, Metabolism, Spain, Foxp2, Biological Psychiatry,Genetics,Genetics & Heredity,Genetics (Clinical),Neurosciences,Psychiatry and Mental Health, Female, Ciências biológicas ii, Ciências biológicas i

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average