The chromosome 15q14 locus for bipolar disorder and schizophrenia: is C15orf53 a major candidate gene?
Identifieur interne : 000453 ( PubMed/Checkpoint ); précédent : 000452; suivant : 000454The chromosome 15q14 locus for bipolar disorder and schizophrenia: is C15orf53 a major candidate gene?
Auteurs : Thorsten M. Kranz [Allemagne] ; Savira Ekawardhani ; Michelle K. Lin ; Simone R. Witzmann ; Fabian Streit ; Ulrike Schuelter ; Hans Bauer ; Darja Henseler ; Jonathan D. Turner ; Claude P. Muller ; Andreas Reif ; Andrea B. Schote ; Jobst MeyerSource :
- Journal of psychiatric research [ 1879-1379 ] ; 2012.
English descriptors
- KwdEn :
- Adult, Bipolar Disorder (genetics), Case-Control Studies, Catatonia (genetics), Chromosomes, Human, Pair 15 (genetics), Female, Genetic Linkage, Genetic Loci (genetics), Genetic Predisposition to Disease (genetics), Genome-Wide Association Study, Humans, Male, Middle Aged, Open Reading Frames (genetics), Schizophrenia (genetics).
- MESH :
Abstract
Bipolar disorder (BD) and schizophrenia are complexly inherited and highly heritable disorders with currently unknown etiologies. Recently, two independent genome-wide association studies for BD identified a small region on chromosome 15q14-15.1, pointing to a locus close to the gene C15orf53. Previously, this genomic region was also found to co-segregate with periodic catatonia (SCZD10, OMIM %605419), an unsystematic schizophrenia according to Leonhard's classification, in several multiplex families, thus pointing to overlapping etiologies of both conditions. A susceptibility locus on chromosome 15q14-15.1 was narrowed down to a 4.38 Mb region in these affected families followed by mutation and segregation analyses of C15orf53. Association analysis of individuals affected by BD and/or SCZD10 (n = 274) and controls (n = 230) and expression analyses in distinct post-mortem human limbic brain tissues were conducted. C15orf53 revealed no mutations in our SCZD10 family members, but segregation of two common haplotypes was found. No association of identified haplotypes was found in our case-control samples. Gene expression could be demonstrated for immune-system-derived cells but not for the post-mortem human limbic brain tissue. Our results indicate that C15orf53 is probably neither causative for the etiology of BD nor for SCZD10 in our samples.
DOI: 10.1016/j.jpsychires.2012.08.008
PubMed: 22944046
Affiliations:
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Kranz</name><affiliation wicri:level="4"><nlm:affiliation>Department of Neurobehavioral Genetics, Institute of Psychobiology, University of Trier, Johanniterufer 15, 54290 Trier, Germany. thorsten.m.kranz@googlemail.com</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurobehavioral Genetics, Institute of Psychobiology, University of Trier, Johanniterufer 15, 54290 Trier</wicri:regionArea><wicri:noRegion>54290 Trier</wicri:noRegion><orgName type="university">Université de Trèves</orgName><placeName><settlement type="city">Trèves (Allemagne)</settlement><region type="land" nuts="1">Rhénanie-Palatinat</region></placeName></affiliation></author><author><name sortKey="Ekawardhani, Savira" sort="Ekawardhani, Savira" uniqKey="Ekawardhani S" first="Savira" last="Ekawardhani">Savira Ekawardhani</name></author><author><name sortKey="Lin, Michelle K" sort="Lin, Michelle K" uniqKey="Lin M" first="Michelle K" last="Lin">Michelle K. 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Kranz</name><affiliation wicri:level="4"><nlm:affiliation>Department of Neurobehavioral Genetics, Institute of Psychobiology, University of Trier, Johanniterufer 15, 54290 Trier, Germany. thorsten.m.kranz@googlemail.com</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurobehavioral Genetics, Institute of Psychobiology, University of Trier, Johanniterufer 15, 54290 Trier</wicri:regionArea><wicri:noRegion>54290 Trier</wicri:noRegion><orgName type="university">Université de Trèves</orgName><placeName><settlement type="city">Trèves (Allemagne)</settlement><region type="land" nuts="1">Rhénanie-Palatinat</region></placeName></affiliation></author><author><name sortKey="Ekawardhani, Savira" sort="Ekawardhani, Savira" uniqKey="Ekawardhani S" first="Savira" last="Ekawardhani">Savira Ekawardhani</name></author><author><name sortKey="Lin, Michelle K" sort="Lin, Michelle K" uniqKey="Lin M" first="Michelle K" last="Lin">Michelle K. Lin</name></author><author><name sortKey="Witzmann, Simone R" sort="Witzmann, Simone R" uniqKey="Witzmann S" first="Simone R" last="Witzmann">Simone R. Witzmann</name></author><author><name sortKey="Streit, Fabian" sort="Streit, Fabian" uniqKey="Streit F" first="Fabian" last="Streit">Fabian Streit</name></author><author><name sortKey="Schuelter, Ulrike" sort="Schuelter, Ulrike" uniqKey="Schuelter U" first="Ulrike" last="Schuelter">Ulrike Schuelter</name></author><author><name sortKey="Bauer, Hans" sort="Bauer, Hans" uniqKey="Bauer H" first="Hans" last="Bauer">Hans Bauer</name></author><author><name sortKey="Henseler, Darja" sort="Henseler, Darja" uniqKey="Henseler D" first="Darja" last="Henseler">Darja Henseler</name></author><author><name sortKey="Turner, Jonathan D" sort="Turner, Jonathan D" uniqKey="Turner J" first="Jonathan D" last="Turner">Jonathan D. Turner</name></author><author><name sortKey="Muller, Claude P" sort="Muller, Claude P" uniqKey="Muller C" first="Claude P" last="Muller">Claude P. Muller</name></author><author><name sortKey="Reif, Andreas" sort="Reif, Andreas" uniqKey="Reif A" first="Andreas" last="Reif">Andreas Reif</name></author><author><name sortKey="Schote, Andrea B" sort="Schote, Andrea B" uniqKey="Schote A" first="Andrea B" last="Schote">Andrea B. Schote</name></author><author><name sortKey="Meyer, Jobst" sort="Meyer, Jobst" uniqKey="Meyer J" first="Jobst" last="Meyer">Jobst Meyer</name></author></analytic><series><title level="j">Journal of psychiatric research</title><idno type="eISSN">1879-1379</idno><imprint><date when="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Bipolar Disorder (genetics)</term><term>Case-Control Studies</term><term>Catatonia (genetics)</term><term>Chromosomes, Human, Pair 15 (genetics)</term><term>Female</term><term>Genetic Linkage</term><term>Genetic Loci (genetics)</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genome-Wide Association Study</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Open Reading Frames (genetics)</term><term>Schizophrenia (genetics)</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Bipolar Disorder</term><term>Catatonia</term><term>Chromosomes, Human, Pair 15</term><term>Genetic Loci</term><term>Genetic Predisposition to Disease</term><term>Open Reading Frames</term><term>Schizophrenia</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Case-Control Studies</term><term>Female</term><term>Genetic Linkage</term><term>Genome-Wide Association Study</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Bipolar disorder (BD) and schizophrenia are complexly inherited and highly heritable disorders with currently unknown etiologies. Recently, two independent genome-wide association studies for BD identified a small region on chromosome 15q14-15.1, pointing to a locus close to the gene C15orf53. Previously, this genomic region was also found to co-segregate with periodic catatonia (SCZD10, OMIM %605419), an unsystematic schizophrenia according to Leonhard's classification, in several multiplex families, thus pointing to overlapping etiologies of both conditions. A susceptibility locus on chromosome 15q14-15.1 was narrowed down to a 4.38 Mb region in these affected families followed by mutation and segregation analyses of C15orf53. Association analysis of individuals affected by BD and/or SCZD10 (n = 274) and controls (n = 230) and expression analyses in distinct post-mortem human limbic brain tissues were conducted. C15orf53 revealed no mutations in our SCZD10 family members, but segregation of two common haplotypes was found. No association of identified haplotypes was found in our case-control samples. Gene expression could be demonstrated for immune-system-derived cells but not for the post-mortem human limbic brain tissue. Our results indicate that C15orf53 is probably neither causative for the etiology of BD nor for SCZD10 in our samples.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">22944046</PMID><DateCreated><Year>2012</Year><Month>10</Month><Day>02</Day></DateCreated><DateCompleted><Year>2013</Year><Month>04</Month><Day>05</Day></DateCompleted><DateRevised><Year>2012</Year><Month>10</Month><Day>02</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1879-1379</ISSN><JournalIssue CitedMedium="Internet"><Volume>46</Volume><Issue>11</Issue><PubDate><Year>2012</Year><Month>Nov</Month></PubDate></JournalIssue><Title>Journal of psychiatric research</Title><ISOAbbreviation>J Psychiatr Res</ISOAbbreviation></Journal><ArticleTitle>The chromosome 15q14 locus for bipolar disorder and schizophrenia: is C15orf53 a major candidate gene?</ArticleTitle><Pagination><MedlinePgn>1414-20</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.jpsychires.2012.08.008</ELocationID><ELocationID EIdType="pii" ValidYN="Y">S0022-3956(12)00241-5</ELocationID><Abstract><AbstractText>Bipolar disorder (BD) and schizophrenia are complexly inherited and highly heritable disorders with currently unknown etiologies. Recently, two independent genome-wide association studies for BD identified a small region on chromosome 15q14-15.1, pointing to a locus close to the gene C15orf53. Previously, this genomic region was also found to co-segregate with periodic catatonia (SCZD10, OMIM %605419), an unsystematic schizophrenia according to Leonhard's classification, in several multiplex families, thus pointing to overlapping etiologies of both conditions. A susceptibility locus on chromosome 15q14-15.1 was narrowed down to a 4.38 Mb region in these affected families followed by mutation and segregation analyses of C15orf53. Association analysis of individuals affected by BD and/or SCZD10 (n = 274) and controls (n = 230) and expression analyses in distinct post-mortem human limbic brain tissues were conducted. C15orf53 revealed no mutations in our SCZD10 family members, but segregation of two common haplotypes was found. No association of identified haplotypes was found in our case-control samples. Gene expression could be demonstrated for immune-system-derived cells but not for the post-mortem human limbic brain tissue. Our results indicate that C15orf53 is probably neither causative for the etiology of BD nor for SCZD10 in our samples.</AbstractText><CopyrightInformation>Copyright © 2012 Elsevier Ltd. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kranz</LastName><ForeName>Thorsten M</ForeName><Initials>TM</Initials><AffiliationInfo><Affiliation>Department of Neurobehavioral Genetics, Institute of Psychobiology, University of Trier, Johanniterufer 15, 54290 Trier, Germany. thorsten.m.kranz@googlemail.com</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ekawardhani</LastName><ForeName>Savira</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Lin</LastName><ForeName>Michelle K</ForeName><Initials>MK</Initials></Author><Author ValidYN="Y"><LastName>Witzmann</LastName><ForeName>Simone R</ForeName><Initials>SR</Initials></Author><Author ValidYN="Y"><LastName>Streit</LastName><ForeName>Fabian</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Schuelter</LastName><ForeName>Ulrike</ForeName><Initials>U</Initials></Author><Author ValidYN="Y"><LastName>Bauer</LastName><ForeName>Hans</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Henseler</LastName><ForeName>Darja</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Turner</LastName><ForeName>Jonathan D</ForeName><Initials>JD</Initials></Author><Author ValidYN="Y"><LastName>Muller</LastName><ForeName>Claude P</ForeName><Initials>CP</Initials></Author><Author ValidYN="Y"><LastName>Reif</LastName><ForeName>Andreas</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Schote</LastName><ForeName>Andrea B</ForeName><Initials>AB</Initials></Author><Author ValidYN="Y"><LastName>Meyer</LastName><ForeName>Jobst</ForeName><Initials>J</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2012</Year><Month>09</Month><Day>01</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>J Psychiatr Res</MedlineTA><NlmUniqueID>0376331</NlmUniqueID><ISSNLinking>0022-3956</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001714" MajorTopicYN="N">Bipolar Disorder</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D016022" MajorTopicYN="N">Case-Control Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002389" MajorTopicYN="N">Catatonia</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002884" MajorTopicYN="N">Chromosomes, Human, Pair 15</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008040" MajorTopicYN="N">Genetic Linkage</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D056426" MajorTopicYN="N">Genetic Loci</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D055106" MajorTopicYN="N">Genome-Wide Association Study</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016366" MajorTopicYN="N">Open Reading Frames</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D012559" MajorTopicYN="N">Schizophrenia</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2012</Year><Month>02</Month><Day>21</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2012</Year><Month>06</Month><Day>10</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2012</Year><Month>08</Month><Day>10</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2012</Year><Month>9</Month><Day>5</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2012</Year><Month>9</Month><Day>5</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2013</Year><Month>4</Month><Day>6</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">22944046</ArticleId><ArticleId IdType="pii">S0022-3956(12)00241-5</ArticleId><ArticleId IdType="doi">10.1016/j.jpsychires.2012.08.008</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Allemagne</li></country><region><li>Rhénanie-Palatinat</li></region><settlement><li>Trèves (Allemagne)</li></settlement><orgName><li>Université de Trèves</li></orgName></list><tree><noCountry><name sortKey="Bauer, Hans" sort="Bauer, Hans" uniqKey="Bauer H" first="Hans" last="Bauer">Hans Bauer</name><name sortKey="Ekawardhani, Savira" sort="Ekawardhani, Savira" uniqKey="Ekawardhani S" first="Savira" last="Ekawardhani">Savira Ekawardhani</name><name sortKey="Henseler, Darja" sort="Henseler, Darja" uniqKey="Henseler D" first="Darja" last="Henseler">Darja Henseler</name><name sortKey="Lin, Michelle K" sort="Lin, Michelle K" uniqKey="Lin M" first="Michelle K" last="Lin">Michelle K. Lin</name><name sortKey="Meyer, Jobst" sort="Meyer, Jobst" uniqKey="Meyer J" first="Jobst" last="Meyer">Jobst Meyer</name><name sortKey="Muller, Claude P" sort="Muller, Claude P" uniqKey="Muller C" first="Claude P" last="Muller">Claude P. Muller</name><name sortKey="Reif, Andreas" sort="Reif, Andreas" uniqKey="Reif A" first="Andreas" last="Reif">Andreas Reif</name><name sortKey="Schote, Andrea B" sort="Schote, Andrea B" uniqKey="Schote A" first="Andrea B" last="Schote">Andrea B. Schote</name><name sortKey="Schuelter, Ulrike" sort="Schuelter, Ulrike" uniqKey="Schuelter U" first="Ulrike" last="Schuelter">Ulrike Schuelter</name><name sortKey="Streit, Fabian" sort="Streit, Fabian" uniqKey="Streit F" first="Fabian" last="Streit">Fabian Streit</name><name sortKey="Turner, Jonathan D" sort="Turner, Jonathan D" uniqKey="Turner J" first="Jonathan D" last="Turner">Jonathan D. Turner</name><name sortKey="Witzmann, Simone R" sort="Witzmann, Simone R" uniqKey="Witzmann S" first="Simone R" last="Witzmann">Simone R. Witzmann</name></noCountry><country name="Allemagne"><region name="Rhénanie-Palatinat"><name sortKey="Kranz, Thorsten M" sort="Kranz, Thorsten M" uniqKey="Kranz T" first="Thorsten M" last="Kranz">Thorsten M. Kranz</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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