1. Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease
- Author
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Simon Girard, Ridha Joober, Patrick A. Dion, Guy A. Rouleau, Julie Gauthier, Marie-Odile Krebs, Loubna Jouan, Sylvia Dobrzeniecka, and Amirthagowri Ambalavanan
- Subjects
alpha Karyopherins ,De novo mutation ,KPNA1 ,Cognitive Neuroscience ,Schizophrenia (object-oriented programming) ,LRP1 ,Disease ,Biology ,ALS2CL ,Bioinformatics ,Polymorphism, Single Nucleotide ,Behavioral Neuroscience ,Genetic Heterogeneity ,Short Paper ,Guanine Nucleotide Exchange Factors ,Humans ,Genetic Predisposition to Disease ,Allele ,Biological Psychiatry ,Exome sequencing ,Alleles ,Adaptor Proteins, Signal Transducing ,Genetics ,Psychiatric Status Rating Scales ,Genome ,Genetic heterogeneity ,Alpha Karyopherins ,General Medicine ,Heritability ,Genetic architecture ,DNA-Binding Proteins ,ZNF480 ,Mutation ,Schizophrenia ,Low Density Lipoprotein Receptor-Related Protein-1 ,Transcription Factors - Abstract
Background Schizophrenia is a severe psychiatric disease characterized by a high heritability and a complex genetic architecture. Recent reports based on exome sequencing analyses have highlighted a significant increase of potentially deleterious de novo mutations in different genes in individuals with schizophrenia. Findings This report presents the mutation screening results of four candidate genes for which such de novo mutations were previously reported (LRP1, KPNA1, ALS2CL and ZNF480). We have not identified any excess of rare variants in the additional SCZ cases we have screened. Conclusions This supports the notion that de novo mutations in these four genes are extremely rare in schizophrenia and further highlights the high degree of genetic heterogeneity of this disease.
- Published
- 2013