Abstract
BackgroundSchizophrenia is considered a language related human specific disease. Previous studies have reported evidence of positive selection for schizophrenia-associated genes specific to the human lineage. FOXP2 shows two important features as a convincing candidate gene for schizophrenia vulnerability: FOXP2 is the first gene related to a language disorder, and it has been subject to positive selection in the human lineage.MethodsTwenty-seven SNPs of FOXP2 were genotyped in a cohort of 293 patients with schizophrenia and 340 controls. We analyzed in particular the association with the poverty of speech and the intensity of auditory hallucinations. Potential expansion of three trinucleotide repeats of FOXP2 was also screened in a subsample. Methylation analysis of a CpG island, located in the first exon of the gene, was performed in post-mortem brain samples, as well as qRT-PCR analysis.ResultsA significant association was found between the SNP rs2253478 and the item Poverty of speech of the Manchester scale (p = 0.038 after Bonferroni correction). In patients, we detected higher degree of methylation in the left parahippocampus gyrus than in the right one.ConclusionsFOXP2 might be involved in the language disorder in patients with schizophrenia. Epigenetic factors might be also implicated in the developing of this disorder.
Highlights
Schizophrenia is considered a language related human specific disease
Most of them are related to fitness, it has been reported that some genes under positive selection in the human lineage can confer vulnerability to some diseases [2,3,4]
In our study of DNA methylation of FOXP2 exon s1 region, we found a higher degree of methylation in the left hemisphere of the parahippocampus gyrus region in patients than in controls
Summary
Schizophrenia is considered a language related human specific disease. Previous studies have reported evidence of positive selection for schizophrenia-associated genes specific to the human lineage. FOXP2 shows two important features as a convincing candidate gene for schizophrenia vulnerability: FOXP2 is the first gene related to a language disorder, and it has been subject to positive selection in the human lineage. Most of them are related to fitness, it has been reported that some genes under positive selection in the human lineage can confer vulnerability to some diseases [2,3,4]. Crespi et al [3] found signals of positive selection in 28 of 76 schizophrenia candidate genes that had been previously reported as positive results in association studies. Evidence of recent positive selection in the human lineage has been found in
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