Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population
Rare variations contribute substantially to autism spectrum disorder (ASD) liability. We recently performed whole-exome sequencing in two families with affected siblings and then carried out a follow-up study and identified ceroid-lipofuscinosis neuronal 8 (epilepsy, progressive with mental retardat...
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| Veröffentlicht in: | PloS one 2015-12, Vol.10 (12), p.e0144624-e0144624 |
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| creator | Inoue, Emiko Watanabe, Yuichiro Xing, Jingrui Kushima, Itaru Egawa, Jun Okuda, Shujiro Hoya, Satoshi Okada, Takashi Uno, Yota Ishizuka, Kanako Sugimoto, Atsunori Igeta, Hirofumi Nunokawa, Ayako Sugiyama, Toshiro Ozaki, Norio Someya, Toshiyuki |
| description | Rare variations contribute substantially to autism spectrum disorder (ASD) liability. We recently performed whole-exome sequencing in two families with affected siblings and then carried out a follow-up study and identified ceroid-lipofuscinosis neuronal 8 (epilepsy, progressive with mental retardation) (CLN8) as a potential genetic risk factor for ASD. To further investigate the role of CLN8 in the genetic etiology of ASD, we performed resequencing and association analysis of CLN8 with ASD in a Japanese population. Resequencing the CLN8 coding region in 256 ASD patients identified five rare missense variations: g.1719291G>A (R24H), rs201670636 (F39L), rs116605307 (R97H), rs143701028 (T108M) and rs138581191 (N152S). These variations were genotyped in 568 patients (including the resequenced 256 patients) and 1017 controls. However, no significant association between these variations and ASD was identified. This study does not support a contribution of rare missense CLN8 variations to ASD susceptibility in the Japanese population. |
| doi_str_mv | 10.1371/journal.pone.0144624 |
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We recently performed whole-exome sequencing in two families with affected siblings and then carried out a follow-up study and identified ceroid-lipofuscinosis neuronal 8 (epilepsy, progressive with mental retardation) (CLN8) as a potential genetic risk factor for ASD. To further investigate the role of CLN8 in the genetic etiology of ASD, we performed resequencing and association analysis of CLN8 with ASD in a Japanese population. Resequencing the CLN8 coding region in 256 ASD patients identified five rare missense variations: g.1719291G>A (R24H), rs201670636 (F39L), rs116605307 (R97H), rs143701028 (T108M) and rs138581191 (N152S). These variations were genotyped in 568 patients (including the resequenced 256 patients) and 1017 controls. However, no significant association between these variations and ASD was identified. This study does not support a contribution of rare missense CLN8 variations to ASD susceptibility in the Japanese population.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0144624</identifier><identifier>PMID: 26657971</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Adolescent ; Adult ; Age ; Apoptosis ; Asian Continental Ancestry Group - genetics ; Association analysis ; Autism ; Autism Spectrum Disorder - genetics ; Cell growth ; Child ; Child & adolescent psychiatry ; Coding ; Epilepsy ; Ethics ; Etiology ; Female ; Genes ; Genetic aspects ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genetic variation ; Genotype ; Health aspects ; Humans ; Identification and classification ; Intellectual disabilities ; Japan ; Liability ; Male ; Medicine ; Membrane Proteins - genetics ; Middle Aged ; Mutation ; Mutation, Missense ; Neural coding ; Patients ; Pedigree ; Pervasive developmental disorders ; Risk factors ; Schizophrenia ; Studies ; University graduates ; Young Adult</subject><ispartof>PloS one, 2015-12, Vol.10 (12), p.e0144624-e0144624</ispartof><rights>COPYRIGHT 2015 Public Library of Science</rights><rights>2015 Inoue et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://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>2015 Inoue et al 2015 Inoue et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c846t-d5829c6c3c1331af69b78169915ebb2fd4a919095eea72d19581c6e4a472cd5e3</citedby><cites>FETCH-LOGICAL-c846t-d5829c6c3c1331af69b78169915ebb2fd4a919095eea72d19581c6e4a472cd5e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4682829/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4682829/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,315,729,782,786,866,887,2106,2932,23875,27933,27934,53800,53802</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26657971$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Zwick, Michael Edward</contributor><creatorcontrib>Inoue, Emiko</creatorcontrib><creatorcontrib>Watanabe, Yuichiro</creatorcontrib><creatorcontrib>Xing, Jingrui</creatorcontrib><creatorcontrib>Kushima, Itaru</creatorcontrib><creatorcontrib>Egawa, Jun</creatorcontrib><creatorcontrib>Okuda, Shujiro</creatorcontrib><creatorcontrib>Hoya, Satoshi</creatorcontrib><creatorcontrib>Okada, Takashi</creatorcontrib><creatorcontrib>Uno, Yota</creatorcontrib><creatorcontrib>Ishizuka, Kanako</creatorcontrib><creatorcontrib>Sugimoto, Atsunori</creatorcontrib><creatorcontrib>Igeta, Hirofumi</creatorcontrib><creatorcontrib>Nunokawa, Ayako</creatorcontrib><creatorcontrib>Sugiyama, Toshiro</creatorcontrib><creatorcontrib>Ozaki, Norio</creatorcontrib><creatorcontrib>Someya, Toshiyuki</creatorcontrib><title>Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>Rare variations contribute substantially to autism spectrum disorder (ASD) liability. We recently performed whole-exome sequencing in two families with affected siblings and then carried out a follow-up study and identified ceroid-lipofuscinosis neuronal 8 (epilepsy, progressive with mental retardation) (CLN8) as a potential genetic risk factor for ASD. To further investigate the role of CLN8 in the genetic etiology of ASD, we performed resequencing and association analysis of CLN8 with ASD in a Japanese population. Resequencing the CLN8 coding region in 256 ASD patients identified five rare missense variations: g.1719291G>A (R24H), rs201670636 (F39L), rs116605307 (R97H), rs143701028 (T108M) and rs138581191 (N152S). These variations were genotyped in 568 patients (including the resequenced 256 patients) and 1017 controls. However, no significant association between these variations and ASD was identified. This study does not support a contribution of rare missense CLN8 variations to ASD susceptibility in the Japanese population.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Age</subject><subject>Apoptosis</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>Association analysis</subject><subject>Autism</subject><subject>Autism Spectrum Disorder - genetics</subject><subject>Cell growth</subject><subject>Child</subject><subject>Child & adolescent psychiatry</subject><subject>Coding</subject><subject>Epilepsy</subject><subject>Ethics</subject><subject>Etiology</subject><subject>Female</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic Association Studies</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic variation</subject><subject>Genotype</subject><subject>Health aspects</subject><subject>Humans</subject><subject>Identification and classification</subject><subject>Intellectual disabilities</subject><subject>Japan</subject><subject>Liability</subject><subject>Male</subject><subject>Medicine</subject><subject>Membrane Proteins - 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We recently performed whole-exome sequencing in two families with affected siblings and then carried out a follow-up study and identified ceroid-lipofuscinosis neuronal 8 (epilepsy, progressive with mental retardation) (CLN8) as a potential genetic risk factor for ASD. To further investigate the role of CLN8 in the genetic etiology of ASD, we performed resequencing and association analysis of CLN8 with ASD in a Japanese population. Resequencing the CLN8 coding region in 256 ASD patients identified five rare missense variations: g.1719291G>A (R24H), rs201670636 (F39L), rs116605307 (R97H), rs143701028 (T108M) and rs138581191 (N152S). These variations were genotyped in 568 patients (including the resequenced 256 patients) and 1017 controls. However, no significant association between these variations and ASD was identified. This study does not support a contribution of rare missense CLN8 variations to ASD susceptibility in the Japanese population.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>26657971</pmid><doi>10.1371/journal.pone.0144624</doi><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Adult Age Apoptosis Asian Continental Ancestry Group - genetics Association analysis Autism Autism Spectrum Disorder - genetics Cell growth Child Child & adolescent psychiatry Coding Epilepsy Ethics Etiology Female Genes Genetic aspects Genetic Association Studies Genetic Predisposition to Disease Genetic variation Genotype Health aspects Humans Identification and classification Intellectual disabilities Japan Liability Male Medicine Membrane Proteins - genetics Middle Aged Mutation Mutation, Missense Neural coding Patients Pedigree Pervasive developmental disorders Risk factors Schizophrenia Studies University graduates Young Adult |
| title | Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-03T14%3A11%3A57IST&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=Resequencing%20and%20Association%20Analysis%20of%20CLN8%20with%20Autism%20Spectrum%20Disorder%20in%20a%20Japanese%20Population&rft.jtitle=PloS%20one&rft.au=Inoue,%20Emiko&rft.date=2015-12-14&rft.volume=10&rft.issue=12&rft.spage=e0144624&rft.epage=e0144624&rft.pages=e0144624-e0144624&rft.issn=1932-6203&rft.eissn=1932-6203&rft_id=info:doi/10.1371/journal.pone.0144624&rft_dat=%3Cgale_plos_%3EA437466089%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=1748864716&rft_id=info:pmid/26657971&rft_galeid=A437466089&rft_doaj_id=oai_doaj_org_article_de67fc4599cd44babb1aa5ebd4897fea&rfr_iscdi=true |