Genomewide Scan and Fine-Mapping Linkage Studies in Four European Samples with Bipolar Affective Disorder Suggest a New Susceptibility Locus on Chromosome 1p35-p36 and Provides Further Evidence of Loci on Chromosome 4q31 and 6q24
We present the findings of a large linkage study of bipolar affective disorder (BPAD) that involved genomewide analysis of 52 families (448 genotyped individuals) of Spanish, Romany, and Bulgarian descent and further fine mapping of the 1p34-p36, 4q28-q31, and 6q15-q24 regions. An additional sample...
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| Veröffentlicht in: | American journal of human genetics 2005-12, Vol.77 (6), p.1102-1111 |
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| creator | Schumacher, Johannes Kaneva, Radka Jamra, Rami Abou Diaz, Guillermo Orozco Ohlraun, Stephanie Milanova, Vihra Lee, Young-Ae Rivas, Fabio Mayoral, Fermin Fuerst, Robert Flaquer, Antonia Windemuth, Christine Gay, Eudoxia Sanz, Sebastian González, Maria José Gil, Susana Cabaleiro, Francisco del Rio, Francisco Perez, Fermin Haro, Jesus Kostov, Christian Chorbov, Vesselin Nikolova-Hill, Amelia Stoyanova, Vessela Onchev, George Kremensky, Ivo Strauch, Konstantin Schulze, Thomas G. Nürnberg, Peter Gaebel, Wolfgang Klimke, Ansgar Auburger, Georg Wienker, Thomas F. Kalaydjieva, Luba Propping, Peter Cichon, Sven Jablensky, Assen Rietschel, Marcella Nöthen, Markus M. |
| description | We present the findings of a large linkage study of bipolar affective disorder (BPAD) that involved genomewide analysis of 52 families (448 genotyped individuals) of Spanish, Romany, and Bulgarian descent and further fine mapping of the 1p34-p36, 4q28-q31, and 6q15-q24 regions. An additional sample of 56 German families (280 individuals) was included for this fine-mapping step. The highest nonparametric linkage scores obtained in the fine mapping were 5.49 for 4q31 and 4.87 for 6q24 in the Romany families and 3.97 for 1p35-p36 in the Spanish sample. MOD-score (LOD scores maximized over genetic model parameters) analysis provided significant evidence of linkage to 4q31 and at least borderline significance for the 1p and 6q regions. On the basis of these results and previous positive research findings, 4q31 and 6q24 should now be considered confirmed BPAD susceptibility loci, and 1p35-p36 is proposed as a new putative locus that requires confirmation in replication studies. |
| doi_str_mv | 10.1086/498619 |
| format | Article |
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An additional sample of 56 German families (280 individuals) was included for this fine-mapping step. The highest nonparametric linkage scores obtained in the fine mapping were 5.49 for 4q31 and 4.87 for 6q24 in the Romany families and 3.97 for 1p35-p36 in the Spanish sample. MOD-score (LOD scores maximized over genetic model parameters) analysis provided significant evidence of linkage to 4q31 and at least borderline significance for the 1p and 6q regions. On the basis of these results and previous positive research findings, 4q31 and 6q24 should now be considered confirmed BPAD susceptibility loci, and 1p35-p36 is proposed as a new putative locus that requires confirmation in replication studies.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>DOI: 10.1086/498619</identifier><identifier>PMID: 16380920</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Bipolar disorder ; Bipolar Disorder - genetics ; Bulgaria - ethnology ; Chromosomes ; Chromosomes, Human, Pair 1 - genetics ; Chromosomes, Human, Pair 4 - genetics ; Chromosomes, Human, Pair 6 - genetics ; Families & family life ; Gene loci ; Genetic linkage ; Genetic Markers ; Genetic Predisposition to Disease ; Genetics ; Genome, Human ; Genomics ; Genotype & phenotype ; Germany - ethnology ; Humans ; Lod Score ; Physical Chromosome Mapping ; Psychiatry ; Roma - ethnology ; Samples ; Spain - ethnology ; White People - ethnology ; White People - statistics & numerical data</subject><ispartof>American journal of human genetics, 2005-12, Vol.77 (6), p.1102-1111</ispartof><rights>2005 The American Society of Human Genetics</rights><rights>Copyright University of Chicago, acting through its Press Dec 2005</rights><rights>2005 by The American Society of Human Genetics. All rights reserved. 2005</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c432t-cd1372c6b93e0083be39bbd869ec276d8e208b2b7382e0b5b37e9d6ee440fc763</citedby><cites>FETCH-LOGICAL-c432t-cd1372c6b93e0083be39bbd869ec276d8e208b2b7382e0b5b37e9d6ee440fc763</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/PMC1285167/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://dx.doi.org/10.1086/498619$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,3550,27924,27925,45995,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16380920$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Schumacher, Johannes</creatorcontrib><creatorcontrib>Kaneva, Radka</creatorcontrib><creatorcontrib>Jamra, Rami Abou</creatorcontrib><creatorcontrib>Diaz, Guillermo Orozco</creatorcontrib><creatorcontrib>Ohlraun, Stephanie</creatorcontrib><creatorcontrib>Milanova, Vihra</creatorcontrib><creatorcontrib>Lee, Young-Ae</creatorcontrib><creatorcontrib>Rivas, Fabio</creatorcontrib><creatorcontrib>Mayoral, Fermin</creatorcontrib><creatorcontrib>Fuerst, Robert</creatorcontrib><creatorcontrib>Flaquer, Antonia</creatorcontrib><creatorcontrib>Windemuth, Christine</creatorcontrib><creatorcontrib>Gay, Eudoxia</creatorcontrib><creatorcontrib>Sanz, Sebastian</creatorcontrib><creatorcontrib>González, Maria José</creatorcontrib><creatorcontrib>Gil, Susana</creatorcontrib><creatorcontrib>Cabaleiro, Francisco</creatorcontrib><creatorcontrib>del Rio, Francisco</creatorcontrib><creatorcontrib>Perez, Fermin</creatorcontrib><creatorcontrib>Haro, Jesus</creatorcontrib><creatorcontrib>Kostov, Christian</creatorcontrib><creatorcontrib>Chorbov, Vesselin</creatorcontrib><creatorcontrib>Nikolova-Hill, Amelia</creatorcontrib><creatorcontrib>Stoyanova, Vessela</creatorcontrib><creatorcontrib>Onchev, George</creatorcontrib><creatorcontrib>Kremensky, Ivo</creatorcontrib><creatorcontrib>Strauch, Konstantin</creatorcontrib><creatorcontrib>Schulze, Thomas G.</creatorcontrib><creatorcontrib>Nürnberg, Peter</creatorcontrib><creatorcontrib>Gaebel, Wolfgang</creatorcontrib><creatorcontrib>Klimke, Ansgar</creatorcontrib><creatorcontrib>Auburger, Georg</creatorcontrib><creatorcontrib>Wienker, Thomas F.</creatorcontrib><creatorcontrib>Kalaydjieva, Luba</creatorcontrib><creatorcontrib>Propping, Peter</creatorcontrib><creatorcontrib>Cichon, Sven</creatorcontrib><creatorcontrib>Jablensky, Assen</creatorcontrib><creatorcontrib>Rietschel, Marcella</creatorcontrib><creatorcontrib>Nöthen, Markus M.</creatorcontrib><title>Genomewide Scan and Fine-Mapping Linkage Studies in Four European Samples with Bipolar Affective Disorder Suggest a New Susceptibility Locus on Chromosome 1p35-p36 and Provides Further Evidence of Loci on Chromosome 4q31 and 6q24</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>We present the findings of a large linkage study of bipolar affective disorder (BPAD) that involved genomewide analysis of 52 families (448 genotyped individuals) of Spanish, Romany, and Bulgarian descent and further fine mapping of the 1p34-p36, 4q28-q31, and 6q15-q24 regions. An additional sample of 56 German families (280 individuals) was included for this fine-mapping step. The highest nonparametric linkage scores obtained in the fine mapping were 5.49 for 4q31 and 4.87 for 6q24 in the Romany families and 3.97 for 1p35-p36 in the Spanish sample. MOD-score (LOD scores maximized over genetic model parameters) analysis provided significant evidence of linkage to 4q31 and at least borderline significance for the 1p and 6q regions. On the basis of these results and previous positive research findings, 4q31 and 6q24 should now be considered confirmed BPAD susceptibility loci, and 1p35-p36 is proposed as a new putative locus that requires confirmation in replication studies.</description><subject>Bipolar disorder</subject><subject>Bipolar Disorder - genetics</subject><subject>Bulgaria - ethnology</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, Pair 1 - genetics</subject><subject>Chromosomes, Human, Pair 4 - genetics</subject><subject>Chromosomes, Human, Pair 6 - genetics</subject><subject>Families & family life</subject><subject>Gene loci</subject><subject>Genetic linkage</subject><subject>Genetic Markers</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetics</subject><subject>Genome, Human</subject><subject>Genomics</subject><subject>Genotype & phenotype</subject><subject>Germany - ethnology</subject><subject>Humans</subject><subject>Lod Score</subject><subject>Physical Chromosome Mapping</subject><subject>Psychiatry</subject><subject>Roma - 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| ispartof | American journal of human genetics, 2005-12, Vol.77 (6), p.1102-1111 |
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| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1285167 |
| source | MEDLINE; Cell Press Free Archives; Access via ScienceDirect (Elsevier); EZB-FREE-00999 freely available EZB journals; PubMed Central |
| subjects | Bipolar disorder Bipolar Disorder - genetics Bulgaria - ethnology Chromosomes Chromosomes, Human, Pair 1 - genetics Chromosomes, Human, Pair 4 - genetics Chromosomes, Human, Pair 6 - genetics Families & family life Gene loci Genetic linkage Genetic Markers Genetic Predisposition to Disease Genetics Genome, Human Genomics Genotype & phenotype Germany - ethnology Humans Lod Score Physical Chromosome Mapping Psychiatry Roma - ethnology Samples Spain - ethnology White People - ethnology White People - statistics & numerical data |
| title | Genomewide Scan and Fine-Mapping Linkage Studies in Four European Samples with Bipolar Affective Disorder Suggest a New Susceptibility Locus on Chromosome 1p35-p36 and Provides Further Evidence of Loci on Chromosome 4q31 and 6q24 |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-19T23%3A41%3A09IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Genomewide%20Scan%20and%20Fine-Mapping%20Linkage%20Studies%20in%20Four%20European%20Samples%20with%20Bipolar%20Affective%20Disorder%20Suggest%20a%20New%20Susceptibility%20Locus%20on%20Chromosome%201p35-p36%20and%20Provides%20Further%20Evidence%20of%20Loci%20on%20Chromosome%204q31%20and%206q24&rft.jtitle=American%20journal%20of%20human%20genetics&rft.au=Schumacher,%20Johannes&rft.date=2005-12-01&rft.volume=77&rft.issue=6&rft.spage=1102&rft.epage=1111&rft.pages=1102-1111&rft.issn=0002-9297&rft.eissn=1537-6605&rft_id=info:doi/10.1086/498619&rft_dat=%3Cproquest_pubme%3E940432431%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=219535400&rft_id=info:pmid/16380920&rft_els_id=S000292970763393X&rfr_iscdi=true |