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  • Original Research Article
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Haplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16 are associated with autism

Abstract

Autism is a developmental disorder characterized by impairments in social interaction and communication associated with repetitive patterns of interest or behavior. Autism is highly influenced by genetic factors. Genome-wide linkage and candidate gene association approaches have been used to try and identify autism genes. A few loci have repeatedly been reported linked to autism. Several groups reported evidence for linkage to a region on chromosome 16p. We have applied a direct physical identity-by-descent (IBD) mapping approach to perform a high-density (0.85 megabases) genome-wide linkage scan in 116 families from the AGRE collection. Our results confirm linkage to a region on chromosome 16p with autism. High-resolution single-nucleotide polymorphism (SNP) genotyping and analysis of this region show that haplotypes in the protein kinase c-beta gene are strongly associated with autism. An independent replication of the association in a second set of 167 trio families with autism confirmed our initial findings. Overall, our data provide evidence that the PRKCB1 gene on chromosome 16p may be involved in the etiology of autism.

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Acknowledgements

We gratefully acknowledge the support of the Autism Genetics Resource Exchange (AGRE, www.agre.org). All DNA and phenotype information used in this article were provided through AGRE. We also thank Professor Andreas Ziegler from the University of Luebeck, Germany for his constructive comments in the preparation of this manuscript.

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Correspondence to J Hager.

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Supplementary Information accompanies the paper on Molecular Psychiatry website (http://www.nature.com/mp).

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Philippi, A., Roschmann, E., Tores, F. et al. Haplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16 are associated with autism. Mol Psychiatry 10, 950–960 (2005). https://doi.org/10.1038/sj.mp.4001704

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