TY - JOUR
T1 - Analysis of two language-related genes in Autism: A case-control association study of FOXP2 and CNTNAP2
AU - Toma, Claudio
AU - Hervás, Amaia
AU - Torrico, Bàrbara
AU - Balmaña, Noemí
AU - Salgado, Marta
AU - Maristany, Marta
AU - Vilella, Elisabet
AU - Martínez-Leal, Rafael
AU - Planelles, Ma Inmaculada
AU - Cuscó, Ivon
AU - Del Campo, Miguel
AU - Pérez-Jurado, Luis A.
AU - Caballero-Andaluz, Rafaela
AU - De Diego-Otero, Yolanda
AU - Pérez-Costillas, Lucía
AU - Ramos-Quiroga, Josep A.
AU - Ribasés, Marta
AU - Bayés, Mònica
AU - Cormand, Bru
PY - 2013/4/1
Y1 - 2013/4/1
N2 - 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.Copyright © Lippincott Williams & Wilkins.
AB - 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.Copyright © Lippincott Williams & Wilkins.
KW - autism
KW - casecontrol association study
KW - CNTNAP2
KW - FOXP2
KW - language
U2 - 10.1097/YPG.0b013e32835d6fc6
DO - 10.1097/YPG.0b013e32835d6fc6
M3 - Article
SN - 0955-8829
VL - 23
SP - 82
EP - 85
JO - Psychiatric Genetics
JF - Psychiatric Genetics
IS - 2
ER -