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Identification of candidate intergenic risk loci in autism spectrum disorder
BACKGROUND: Copy number variations (CNVs) and DNA sequence alterations affecting specific neuronal genes are established risk factors for Autism Spectrum Disorder (ASD). In what is largely considered a genetic condition, so far, these mutations account for ~20% of individuals having an ASD diagnosis...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3734099/ https://www.ncbi.nlm.nih.gov/pubmed/23879678 http://dx.doi.org/10.1186/1471-2164-14-499 |
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author | Walker, Susan Scherer, Stephen W |
author_facet | Walker, Susan Scherer, Stephen W |
author_sort | Walker, Susan |
collection | PubMed |
description | BACKGROUND: Copy number variations (CNVs) and DNA sequence alterations affecting specific neuronal genes are established risk factors for Autism Spectrum Disorder (ASD). In what is largely considered a genetic condition, so far, these mutations account for ~20% of individuals having an ASD diagnosis. However, non-coding genomic sequence also contains functional elements introducing additional disease risk loci for investigation. RESULTS: We have performed genome-wide analyses and identified rare inherited CNVs affecting non-genic intervals in 41 of 1491 (3%) of ASD cases examined. Examples of such intergenic CNV regions include 16q21 and 2p16.3 near known ASD risk genes CDH8 and NRXN1 respectively, as well as novel loci contiguous with ZHX2, MOCS1, LRRC4C, SEMA3C, and other genes. CONCLUSIONS: Rare variants in intergenic regions may implicate new risk loci and genes in ASD and also present useful data for comparison with coming whole genome sequence datasets. |
format | Online Article Text |
id | pubmed-3734099 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-37340992013-08-06 Identification of candidate intergenic risk loci in autism spectrum disorder Walker, Susan Scherer, Stephen W BMC Genomics Research Article BACKGROUND: Copy number variations (CNVs) and DNA sequence alterations affecting specific neuronal genes are established risk factors for Autism Spectrum Disorder (ASD). In what is largely considered a genetic condition, so far, these mutations account for ~20% of individuals having an ASD diagnosis. However, non-coding genomic sequence also contains functional elements introducing additional disease risk loci for investigation. RESULTS: We have performed genome-wide analyses and identified rare inherited CNVs affecting non-genic intervals in 41 of 1491 (3%) of ASD cases examined. Examples of such intergenic CNV regions include 16q21 and 2p16.3 near known ASD risk genes CDH8 and NRXN1 respectively, as well as novel loci contiguous with ZHX2, MOCS1, LRRC4C, SEMA3C, and other genes. CONCLUSIONS: Rare variants in intergenic regions may implicate new risk loci and genes in ASD and also present useful data for comparison with coming whole genome sequence datasets. BioMed Central 2013-07-24 /pmc/articles/PMC3734099/ /pubmed/23879678 http://dx.doi.org/10.1186/1471-2164-14-499 Text en Copyright © 2013 Walker and Scherer; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Walker, Susan Scherer, Stephen W Identification of candidate intergenic risk loci in autism spectrum disorder |
title | Identification of candidate intergenic risk loci in autism spectrum disorder |
title_full | Identification of candidate intergenic risk loci in autism spectrum disorder |
title_fullStr | Identification of candidate intergenic risk loci in autism spectrum disorder |
title_full_unstemmed | Identification of candidate intergenic risk loci in autism spectrum disorder |
title_short | Identification of candidate intergenic risk loci in autism spectrum disorder |
title_sort | identification of candidate intergenic risk loci in autism spectrum disorder |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3734099/ https://www.ncbi.nlm.nih.gov/pubmed/23879678 http://dx.doi.org/10.1186/1471-2164-14-499 |
work_keys_str_mv | AT walkersusan identificationofcandidateintergenicrisklociinautismspectrumdisorder AT schererstephenw identificationofcandidateintergenicrisklociinautismspectrumdisorder |