Parent-of-origin effects in autism identified through genome-wide linkage analysis of 16,000 SNPs
Autism is a common heritable neurodevelopmental disorder with complex etiology. Several genome-wide linkage and association scans have been carried out to identify regions harboring genes related to autism or autism spectrum disorders, with mixed results. Given the overlap in autism features with ge...
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| description | Autism is a common heritable neurodevelopmental disorder with complex etiology. Several genome-wide linkage and association scans have been carried out to identify regions harboring genes related to autism or autism spectrum disorders, with mixed results. Given the overlap in autism features with genetic abnormalities known to be associated with imprinting, one possible reason for lack of consistency would be the influence of parent-of-origin effects that may mask the ability to detect linkage and association.
We have performed a genome-wide linkage scan that accounts for potential parent-of-origin effects using 16,311 SNPs among families from the Autism Genetic Resource Exchange (AGRE) and the National Institute of Mental Health (NIMH) autism repository. We report parametric (GH, Genehunter) and allele-sharing linkage (Aspex) results using a broad spectrum disorder case definition. Paternal-origin genome-wide statistically significant linkage was observed on chromosomes 4 (LOD(GH) = 3.79, empirical p |
| doi_str_mv | 10.1371/journal.pone.0012513 |
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We have performed a genome-wide linkage scan that accounts for potential parent-of-origin effects using 16,311 SNPs among families from the Autism Genetic Resource Exchange (AGRE) and the National Institute of Mental Health (NIMH) autism repository. We report parametric (GH, Genehunter) and allele-sharing linkage (Aspex) results using a broad spectrum disorder case definition. Paternal-origin genome-wide statistically significant linkage was observed on chromosomes 4 (LOD(GH) = 3.79, empirical p<0.005 and LOD(Aspex) = 2.96, p = 0.008), 15 (LOD(GH) = 3.09, empirical p<0.005 and LOD(Aspex) = 3.62, empirical p = 0.003) and 20 (LOD(GH) = 3.36, empirical p<0.005 and LOD(Aspex) = 3.38, empirical p = 0.006).
These regions may harbor imprinted sites associated with the development of autism and offer fruitful domains for molecular investigation into the role of epigenetic mechanisms in autism.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0012513</identifier><identifier>PMID: 20824079</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Abnormalities ; Adolescent ; Adult ; Analysis ; Autism ; Autistic Disorder - genetics ; Biochemistry, Molecular Biology ; Child ; Chromosome Mapping ; Chromosomes ; Development and progression ; DNA methylation ; Empirical analysis ; Epidemiology ; Epigenetic inheritance ; Epigenetics ; Etiology ; Families & family life ; Female ; Genes ; Genetic abnormalities ; Genetic aspects ; Genetic Linkage ; Genetic Predisposition to Disease ; Genetic resources ; Genetics and Genomics/Complex Traits ; Genetics and Genomics/Epigenetics ; Genetics and Genomics/Gene Discovery ; Genetics and Genomics/Genetics of Disease ; Genome-Wide Association Study ; Genomes ; Genomic Imprinting ; Genomics ; Growth hormone ; Humans ; Imprinting ; Life Sciences ; Linkage analysis ; Male ; Medicine ; Mental disorders ; Mental health ; Middle Aged ; Neurodevelopmental disorders ; Pedigree ; Polymorphism, Single Nucleotide ; Proteins ; Public health ; Santé publique et épidémiologie ; Single-nucleotide polymorphism ; Statistical analysis ; Young Adult</subject><ispartof>PloS one, 2010-09, Vol.5 (9), p.e12513</ispartof><rights>COPYRIGHT 2010 Public Library of Science</rights><rights>2010 Fradin et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><rights>Fradin et al. 2010</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c757t-3aad002a908da212e7338b0c729dfccff3358787f427985811c66733411577c83</citedby><cites>FETCH-LOGICAL-c757t-3aad002a908da212e7338b0c729dfccff3358787f427985811c66733411577c83</cites><orcidid>0000-0001-6231-2649</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2932694/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2932694/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2095,2914,23846,27903,27904,53769,53771,79346,79347</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20824079$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.science/hal-02329988$$DView record in HAL$$Hfree_for_read</backlink></links><search><contributor>Dubé, Marie-Pierre</contributor><creatorcontrib>Fradin, Delphine</creatorcontrib><creatorcontrib>Cheslack-Postava, Keely</creatorcontrib><creatorcontrib>Ladd-Acosta, Christine</creatorcontrib><creatorcontrib>Newschaffer, Craig</creatorcontrib><creatorcontrib>Chakravarti, Aravinda</creatorcontrib><creatorcontrib>Arking, Dan E</creatorcontrib><creatorcontrib>Feinberg, Andrew</creatorcontrib><creatorcontrib>Fallin, M Daniele</creatorcontrib><title>Parent-of-origin effects in autism identified through genome-wide linkage analysis of 16,000 SNPs</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>Autism is a common heritable neurodevelopmental disorder with complex etiology. Several genome-wide linkage and association scans have been carried out to identify regions harboring genes related to autism or autism spectrum disorders, with mixed results. Given the overlap in autism features with genetic abnormalities known to be associated with imprinting, one possible reason for lack of consistency would be the influence of parent-of-origin effects that may mask the ability to detect linkage and association.
We have performed a genome-wide linkage scan that accounts for potential parent-of-origin effects using 16,311 SNPs among families from the Autism Genetic Resource Exchange (AGRE) and the National Institute of Mental Health (NIMH) autism repository. We report parametric (GH, Genehunter) and allele-sharing linkage (Aspex) results using a broad spectrum disorder case definition. Paternal-origin genome-wide statistically significant linkage was observed on chromosomes 4 (LOD(GH) = 3.79, empirical p<0.005 and LOD(Aspex) = 2.96, p = 0.008), 15 (LOD(GH) = 3.09, empirical p<0.005 and LOD(Aspex) = 3.62, empirical p = 0.003) and 20 (LOD(GH) = 3.36, empirical p<0.005 and LOD(Aspex) = 3.38, empirical p = 0.006).
These regions may harbor imprinted sites associated with the development of autism and offer fruitful domains for molecular investigation into the role of epigenetic mechanisms in autism.</description><subject>Abnormalities</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Analysis</subject><subject>Autism</subject><subject>Autistic Disorder - genetics</subject><subject>Biochemistry, Molecular Biology</subject><subject>Child</subject><subject>Chromosome Mapping</subject><subject>Chromosomes</subject><subject>Development and progression</subject><subject>DNA methylation</subject><subject>Empirical analysis</subject><subject>Epidemiology</subject><subject>Epigenetic inheritance</subject><subject>Epigenetics</subject><subject>Etiology</subject><subject>Families & family life</subject><subject>Female</subject><subject>Genes</subject><subject>Genetic abnormalities</subject><subject>Genetic aspects</subject><subject>Genetic Linkage</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic resources</subject><subject>Genetics and Genomics/Complex Traits</subject><subject>Genetics and Genomics/Epigenetics</subject><subject>Genetics and Genomics/Gene Discovery</subject><subject>Genetics and Genomics/Genetics of Disease</subject><subject>Genome-Wide Association Study</subject><subject>Genomes</subject><subject>Genomic Imprinting</subject><subject>Genomics</subject><subject>Growth hormone</subject><subject>Humans</subject><subject>Imprinting</subject><subject>Life Sciences</subject><subject>Linkage analysis</subject><subject>Male</subject><subject>Medicine</subject><subject>Mental disorders</subject><subject>Mental health</subject><subject>Middle Aged</subject><subject>Neurodevelopmental disorders</subject><subject>Pedigree</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Proteins</subject><subject>Public health</subject><subject>Santé publique et épidémiologie</subject><subject>Single-nucleotide 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effects in autism identified through genome-wide linkage analysis of 16,000 SNPs</title><author>Fradin, Delphine ; Cheslack-Postava, Keely ; Ladd-Acosta, Christine ; Newschaffer, Craig ; Chakravarti, Aravinda ; Arking, Dan E ; Feinberg, Andrew ; Fallin, M Daniele</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c757t-3aad002a908da212e7338b0c729dfccff3358787f427985811c66733411577c83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Abnormalities</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Analysis</topic><topic>Autism</topic><topic>Autistic Disorder - genetics</topic><topic>Biochemistry, Molecular Biology</topic><topic>Child</topic><topic>Chromosome Mapping</topic><topic>Chromosomes</topic><topic>Development and progression</topic><topic>DNA methylation</topic><topic>Empirical analysis</topic><topic>Epidemiology</topic><topic>Epigenetic inheritance</topic><topic>Epigenetics</topic><topic>Etiology</topic><topic>Families & family life</topic><topic>Female</topic><topic>Genes</topic><topic>Genetic abnormalities</topic><topic>Genetic aspects</topic><topic>Genetic Linkage</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic resources</topic><topic>Genetics and Genomics/Complex Traits</topic><topic>Genetics and Genomics/Epigenetics</topic><topic>Genetics and Genomics/Gene Discovery</topic><topic>Genetics and Genomics/Genetics of Disease</topic><topic>Genome-Wide Association Study</topic><topic>Genomes</topic><topic>Genomic Imprinting</topic><topic>Genomics</topic><topic>Growth hormone</topic><topic>Humans</topic><topic>Imprinting</topic><topic>Life Sciences</topic><topic>Linkage analysis</topic><topic>Male</topic><topic>Medicine</topic><topic>Mental disorders</topic><topic>Mental health</topic><topic>Middle Aged</topic><topic>Neurodevelopmental disorders</topic><topic>Pedigree</topic><topic>Polymorphism, 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analysis of 16,000 SNPs</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2010-09-02</date><risdate>2010</risdate><volume>5</volume><issue>9</issue><spage>e12513</spage><pages>e12513-</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>Autism is a common heritable neurodevelopmental disorder with complex etiology. Several genome-wide linkage and association scans have been carried out to identify regions harboring genes related to autism or autism spectrum disorders, with mixed results. Given the overlap in autism features with genetic abnormalities known to be associated with imprinting, one possible reason for lack of consistency would be the influence of parent-of-origin effects that may mask the ability to detect linkage and association.
We have performed a genome-wide linkage scan that accounts for potential parent-of-origin effects using 16,311 SNPs among families from the Autism Genetic Resource Exchange (AGRE) and the National Institute of Mental Health (NIMH) autism repository. We report parametric (GH, Genehunter) and allele-sharing linkage (Aspex) results using a broad spectrum disorder case definition. Paternal-origin genome-wide statistically significant linkage was observed on chromosomes 4 (LOD(GH) = 3.79, empirical p<0.005 and LOD(Aspex) = 2.96, p = 0.008), 15 (LOD(GH) = 3.09, empirical p<0.005 and LOD(Aspex) = 3.62, empirical p = 0.003) and 20 (LOD(GH) = 3.36, empirical p<0.005 and LOD(Aspex) = 3.38, empirical p = 0.006).
These regions may harbor imprinted sites associated with the development of autism and offer fruitful domains for molecular investigation into the role of epigenetic mechanisms in autism.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>20824079</pmid><doi>10.1371/journal.pone.0012513</doi><tpages>e12513</tpages><orcidid>https://orcid.org/0000-0001-6231-2649</orcidid><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Public Library of Science (PLoS) Journals Open Access; PubMed Central; Free Full-Text Journals in Chemistry; DOAJ: Directory of Open Access Journals; EZB Electronic Journals Library |
| subjects | Abnormalities Adolescent Adult Analysis Autism Autistic Disorder - genetics Biochemistry, Molecular Biology Child Chromosome Mapping Chromosomes Development and progression DNA methylation Empirical analysis Epidemiology Epigenetic inheritance Epigenetics Etiology Families & family life Female Genes Genetic abnormalities Genetic aspects Genetic Linkage Genetic Predisposition to Disease Genetic resources Genetics and Genomics/Complex Traits Genetics and Genomics/Epigenetics Genetics and Genomics/Gene Discovery Genetics and Genomics/Genetics of Disease Genome-Wide Association Study Genomes Genomic Imprinting Genomics Growth hormone Humans Imprinting Life Sciences Linkage analysis Male Medicine Mental disorders Mental health Middle Aged Neurodevelopmental disorders Pedigree Polymorphism, Single Nucleotide Proteins Public health Santé publique et épidémiologie Single-nucleotide polymorphism Statistical analysis Young Adult |
| title | Parent-of-origin effects in autism identified through genome-wide linkage analysis of 16,000 SNPs |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-24T22%3A32%3A37IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_plos_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Parent-of-origin%20effects%20in%20autism%20identified%20through%20genome-wide%20linkage%20analysis%20of%2016,000%20SNPs&rft.jtitle=PloS%20one&rft.au=Fradin,%20Delphine&rft.date=2010-09-02&rft.volume=5&rft.issue=9&rft.spage=e12513&rft.pages=e12513-&rft.issn=1932-6203&rft.eissn=1932-6203&rft_id=info:doi/10.1371/journal.pone.0012513&rft_dat=%3Cgale_plos_%3EA473863909%3C/gale_plos_%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1292229867&rft_id=info:pmid/20824079&rft_galeid=A473863909&rft_doaj_id=oai_doaj_org_article_024c01837b39473687796dbcce4273f6&rfr_iscdi=true |