A genome-wide search for risk genes using homozygosity mapping and microarrays with 1,494 single-nucleotide polymorphisms in 22 eastern Cuban families with bipolar disorder
Homozygosity mapping is a very powerful method for finding rare recessive disease genes in monogenic disorders and may also be useful for locating risk genes in complex disorders, late onset disorders where parents often are not available, and for rare phenotypic subgroups. In the present study, hom...
Gespeichert in:
| Veröffentlicht in: | American journal of medical genetics. Part B, Neuropsychiatric genetics Neuropsychiatric genetics, 2005-02, Vol.133B (1), p.25-30 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 30 |
|---|---|
| container_issue | 1 |
| container_start_page | 25 |
| container_title | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| container_volume | 133B |
| creator | Ewald, H. Wikman, F.P. Teruel, B.M. Buttenschön, H.N. Torralba, M. Als, T.D. El Daoud, A. Flint, T.J. Jorgensen, T.H. Blanco, L. Kruse, T.A. Orntoft, T.F. Mors, O. |
| description | Homozygosity mapping is a very powerful method for finding rare recessive disease genes in monogenic disorders and may also be useful for locating risk genes in complex disorders, late onset disorders where parents often are not available, and for rare phenotypic subgroups. In the present study, homozygosity mapping was applied to 24 persons with bipolar disorder from 22 inbred families. The families were selected irrespective of whether other affected family members were present or not. A genome wide screen using genotypes from only a single affected person in each family was performed using the AFFYMETRIX GeneChip HuSNP Mapping Assay, which contains 1,494 single nucleotide polymorphisms. At chromosome 17q24‐q25 a parametric multipoint LOD score of 1.96 was found at WIAF‐2407 and WIAF‐2405. When analyzing 19 additional microsatellite markers on chromosome 17q the maximum parametric multipoint LOD score was 2.08, 1.5 cM proximal to D17S668. The present study replicates a recent significant linkage finding. © 2004 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.b.30106 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_67379580</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>67379580</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4026-3e3130bbf93d9e5449255c888e766d0d10dd3c16703fc269f403e9405725ece23</originalsourceid><addsrcrecordid>eNp9kUtv1DAURi0Eog_YsUZesWoGP_NYjgaYUrUg8dCws5z4ZsZtHAc70TT8Jn4kSWcoO1a2fM93ZN0PoVeULCgh7K2-ddtFueCEkvQJOqVSskTk8sfTx7ugJ-gsxltCOJFZ9hydTAOZZ1Seot9LvIXWO0j21gCOoEO1w7UPONh4N88g4iHadot33vlf49ZH24_Y6a6bH3VrsLNV8DoEPUa8t_0O0wtRCDyHGkjaoWrA97O9883ofOh2NrqIbYsZw6BjD6HFq6HULa61s42Fo6e0U0IHbGz0wUB4gZ7Vuonw8nieo-8f3n9bXSbXn9cfV8vrpBKEpQkHTjkpy7rgpgApRMGkrPI8hyxNDTGUGMMrmmaE1xVLi1oQDoWYdsMkVMD4OXpz8HbB_xwg9srZWEHT6Bb8EFWa8ayQOZnAiwM4LSDGALXqgnU6jIoSNbej5nZUqR7amfDXR-9QOjD_4GMdE8APwN42MP5XppZXN-u_2uSQstMq7x9TOtw9_FSqzae1uvwqNl-uNu_UDf8DSkitow</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>67379580</pqid></control><display><type>article</type><title>A genome-wide search for risk genes using homozygosity mapping and microarrays with 1,494 single-nucleotide polymorphisms in 22 eastern Cuban families with bipolar disorder</title><source>MEDLINE</source><source>Wiley Journals</source><creator>Ewald, H. ; Wikman, F.P. ; Teruel, B.M. ; Buttenschön, H.N. ; Torralba, M. ; Als, T.D. ; El Daoud, A. ; Flint, T.J. ; Jorgensen, T.H. ; Blanco, L. ; Kruse, T.A. ; Orntoft, T.F. ; Mors, O.</creator><creatorcontrib>Ewald, H. ; Wikman, F.P. ; Teruel, B.M. ; Buttenschön, H.N. ; Torralba, M. ; Als, T.D. ; El Daoud, A. ; Flint, T.J. ; Jorgensen, T.H. ; Blanco, L. ; Kruse, T.A. ; Orntoft, T.F. ; Mors, O.</creatorcontrib><description>Homozygosity mapping is a very powerful method for finding rare recessive disease genes in monogenic disorders and may also be useful for locating risk genes in complex disorders, late onset disorders where parents often are not available, and for rare phenotypic subgroups. In the present study, homozygosity mapping was applied to 24 persons with bipolar disorder from 22 inbred families. The families were selected irrespective of whether other affected family members were present or not. A genome wide screen using genotypes from only a single affected person in each family was performed using the AFFYMETRIX GeneChip HuSNP Mapping Assay, which contains 1,494 single nucleotide polymorphisms. At chromosome 17q24‐q25 a parametric multipoint LOD score of 1.96 was found at WIAF‐2407 and WIAF‐2405. When analyzing 19 additional microsatellite markers on chromosome 17q the maximum parametric multipoint LOD score was 2.08, 1.5 cM proximal to D17S668. The present study replicates a recent significant linkage finding. © 2004 Wiley‐Liss, Inc.</description><identifier>ISSN: 1552-4841</identifier><identifier>EISSN: 1552-485X</identifier><identifier>DOI: 10.1002/ajmg.b.30106</identifier><identifier>PMID: 15558715</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Alleles ; bipolar disorder ; Bipolar Disorder - genetics ; chromosome 17 ; Chromosome Mapping - methods ; Chromosomes, Human, Pair 17 - genetics ; Consanguinity ; Cuba ; Family Health ; Female ; Gene Frequency ; Genetic Predisposition to Disease - genetics ; genome scan ; Genome, Human ; Genotype ; homozygosity mapping ; Homozygote ; Humans ; Lod Score ; Male ; microarrays ; Microsatellite Repeats ; Pedigree ; Polymorphism, Single Nucleotide</subject><ispartof>American journal of medical genetics. Part B, Neuropsychiatric genetics, 2005-02, Vol.133B (1), p.25-30</ispartof><rights>Copyright © 2004 Wiley‐Liss, Inc.</rights><rights>(c) 2004 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4026-3e3130bbf93d9e5449255c888e766d0d10dd3c16703fc269f403e9405725ece23</citedby><cites>FETCH-LOGICAL-c4026-3e3130bbf93d9e5449255c888e766d0d10dd3c16703fc269f403e9405725ece23</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fajmg.b.30106$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fajmg.b.30106$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15558715$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ewald, H.</creatorcontrib><creatorcontrib>Wikman, F.P.</creatorcontrib><creatorcontrib>Teruel, B.M.</creatorcontrib><creatorcontrib>Buttenschön, H.N.</creatorcontrib><creatorcontrib>Torralba, M.</creatorcontrib><creatorcontrib>Als, T.D.</creatorcontrib><creatorcontrib>El Daoud, A.</creatorcontrib><creatorcontrib>Flint, T.J.</creatorcontrib><creatorcontrib>Jorgensen, T.H.</creatorcontrib><creatorcontrib>Blanco, L.</creatorcontrib><creatorcontrib>Kruse, T.A.</creatorcontrib><creatorcontrib>Orntoft, T.F.</creatorcontrib><creatorcontrib>Mors, O.</creatorcontrib><title>A genome-wide search for risk genes using homozygosity mapping and microarrays with 1,494 single-nucleotide polymorphisms in 22 eastern Cuban families with bipolar disorder</title><title>American journal of medical genetics. Part B, Neuropsychiatric genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>Homozygosity mapping is a very powerful method for finding rare recessive disease genes in monogenic disorders and may also be useful for locating risk genes in complex disorders, late onset disorders where parents often are not available, and for rare phenotypic subgroups. In the present study, homozygosity mapping was applied to 24 persons with bipolar disorder from 22 inbred families. The families were selected irrespective of whether other affected family members were present or not. A genome wide screen using genotypes from only a single affected person in each family was performed using the AFFYMETRIX GeneChip HuSNP Mapping Assay, which contains 1,494 single nucleotide polymorphisms. At chromosome 17q24‐q25 a parametric multipoint LOD score of 1.96 was found at WIAF‐2407 and WIAF‐2405. When analyzing 19 additional microsatellite markers on chromosome 17q the maximum parametric multipoint LOD score was 2.08, 1.5 cM proximal to D17S668. The present study replicates a recent significant linkage finding. © 2004 Wiley‐Liss, Inc.</description><subject>Alleles</subject><subject>bipolar disorder</subject><subject>Bipolar Disorder - genetics</subject><subject>chromosome 17</subject><subject>Chromosome Mapping - methods</subject><subject>Chromosomes, Human, Pair 17 - genetics</subject><subject>Consanguinity</subject><subject>Cuba</subject><subject>Family Health</subject><subject>Female</subject><subject>Gene Frequency</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>genome scan</subject><subject>Genome, Human</subject><subject>Genotype</subject><subject>homozygosity mapping</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Lod Score</subject><subject>Male</subject><subject>microarrays</subject><subject>Microsatellite Repeats</subject><subject>Pedigree</subject><subject>Polymorphism, Single Nucleotide</subject><issn>1552-4841</issn><issn>1552-485X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kUtv1DAURi0Eog_YsUZesWoGP_NYjgaYUrUg8dCws5z4ZsZtHAc70TT8Jn4kSWcoO1a2fM93ZN0PoVeULCgh7K2-ddtFueCEkvQJOqVSskTk8sfTx7ugJ-gsxltCOJFZ9hydTAOZZ1Seot9LvIXWO0j21gCOoEO1w7UPONh4N88g4iHadot33vlf49ZH24_Y6a6bH3VrsLNV8DoEPUa8t_0O0wtRCDyHGkjaoWrA97O9883ofOh2NrqIbYsZw6BjD6HFq6HULa61s42Fo6e0U0IHbGz0wUB4gZ7Vuonw8nieo-8f3n9bXSbXn9cfV8vrpBKEpQkHTjkpy7rgpgApRMGkrPI8hyxNDTGUGMMrmmaE1xVLi1oQDoWYdsMkVMD4OXpz8HbB_xwg9srZWEHT6Bb8EFWa8ayQOZnAiwM4LSDGALXqgnU6jIoSNbej5nZUqR7amfDXR-9QOjD_4GMdE8APwN42MP5XppZXN-u_2uSQstMq7x9TOtw9_FSqzae1uvwqNl-uNu_UDf8DSkitow</recordid><startdate>20050205</startdate><enddate>20050205</enddate><creator>Ewald, H.</creator><creator>Wikman, F.P.</creator><creator>Teruel, B.M.</creator><creator>Buttenschön, H.N.</creator><creator>Torralba, M.</creator><creator>Als, T.D.</creator><creator>El Daoud, A.</creator><creator>Flint, T.J.</creator><creator>Jorgensen, T.H.</creator><creator>Blanco, L.</creator><creator>Kruse, T.A.</creator><creator>Orntoft, T.F.</creator><creator>Mors, O.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20050205</creationdate><title>A genome-wide search for risk genes using homozygosity mapping and microarrays with 1,494 single-nucleotide polymorphisms in 22 eastern Cuban families with bipolar disorder</title><author>Ewald, H. ; Wikman, F.P. ; Teruel, B.M. ; Buttenschön, H.N. ; Torralba, M. ; Als, T.D. ; El Daoud, A. ; Flint, T.J. ; Jorgensen, T.H. ; Blanco, L. ; Kruse, T.A. ; Orntoft, T.F. ; Mors, O.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4026-3e3130bbf93d9e5449255c888e766d0d10dd3c16703fc269f403e9405725ece23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Alleles</topic><topic>bipolar disorder</topic><topic>Bipolar Disorder - genetics</topic><topic>chromosome 17</topic><topic>Chromosome Mapping - methods</topic><topic>Chromosomes, Human, Pair 17 - genetics</topic><topic>Consanguinity</topic><topic>Cuba</topic><topic>Family Health</topic><topic>Female</topic><topic>Gene Frequency</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>genome scan</topic><topic>Genome, Human</topic><topic>Genotype</topic><topic>homozygosity mapping</topic><topic>Homozygote</topic><topic>Humans</topic><topic>Lod Score</topic><topic>Male</topic><topic>microarrays</topic><topic>Microsatellite Repeats</topic><topic>Pedigree</topic><topic>Polymorphism, Single Nucleotide</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ewald, H.</creatorcontrib><creatorcontrib>Wikman, F.P.</creatorcontrib><creatorcontrib>Teruel, B.M.</creatorcontrib><creatorcontrib>Buttenschön, H.N.</creatorcontrib><creatorcontrib>Torralba, M.</creatorcontrib><creatorcontrib>Als, T.D.</creatorcontrib><creatorcontrib>El Daoud, A.</creatorcontrib><creatorcontrib>Flint, T.J.</creatorcontrib><creatorcontrib>Jorgensen, T.H.</creatorcontrib><creatorcontrib>Blanco, L.</creatorcontrib><creatorcontrib>Kruse, T.A.</creatorcontrib><creatorcontrib>Orntoft, T.F.</creatorcontrib><creatorcontrib>Mors, O.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics. Part B, Neuropsychiatric genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ewald, H.</au><au>Wikman, F.P.</au><au>Teruel, B.M.</au><au>Buttenschön, H.N.</au><au>Torralba, M.</au><au>Als, T.D.</au><au>El Daoud, A.</au><au>Flint, T.J.</au><au>Jorgensen, T.H.</au><au>Blanco, L.</au><au>Kruse, T.A.</au><au>Orntoft, T.F.</au><au>Mors, O.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A genome-wide search for risk genes using homozygosity mapping and microarrays with 1,494 single-nucleotide polymorphisms in 22 eastern Cuban families with bipolar disorder</atitle><jtitle>American journal of medical genetics. Part B, Neuropsychiatric genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2005-02-05</date><risdate>2005</risdate><volume>133B</volume><issue>1</issue><spage>25</spage><epage>30</epage><pages>25-30</pages><issn>1552-4841</issn><eissn>1552-485X</eissn><abstract>Homozygosity mapping is a very powerful method for finding rare recessive disease genes in monogenic disorders and may also be useful for locating risk genes in complex disorders, late onset disorders where parents often are not available, and for rare phenotypic subgroups. In the present study, homozygosity mapping was applied to 24 persons with bipolar disorder from 22 inbred families. The families were selected irrespective of whether other affected family members were present or not. A genome wide screen using genotypes from only a single affected person in each family was performed using the AFFYMETRIX GeneChip HuSNP Mapping Assay, which contains 1,494 single nucleotide polymorphisms. At chromosome 17q24‐q25 a parametric multipoint LOD score of 1.96 was found at WIAF‐2407 and WIAF‐2405. When analyzing 19 additional microsatellite markers on chromosome 17q the maximum parametric multipoint LOD score was 2.08, 1.5 cM proximal to D17S668. The present study replicates a recent significant linkage finding. © 2004 Wiley‐Liss, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>15558715</pmid><doi>10.1002/ajmg.b.30106</doi><tpages>6</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1552-4841 |
| ispartof | American journal of medical genetics. Part B, Neuropsychiatric genetics, 2005-02, Vol.133B (1), p.25-30 |
| issn | 1552-4841 1552-485X |
| language | eng |
| recordid | cdi_proquest_miscellaneous_67379580 |
| source | MEDLINE; Wiley Journals |
| subjects | Alleles bipolar disorder Bipolar Disorder - genetics chromosome 17 Chromosome Mapping - methods Chromosomes, Human, Pair 17 - genetics Consanguinity Cuba Family Health Female Gene Frequency Genetic Predisposition to Disease - genetics genome scan Genome, Human Genotype homozygosity mapping Homozygote Humans Lod Score Male microarrays Microsatellite Repeats Pedigree Polymorphism, Single Nucleotide |
| title | A genome-wide search for risk genes using homozygosity mapping and microarrays with 1,494 single-nucleotide polymorphisms in 22 eastern Cuban families with bipolar disorder |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-27T02%3A05%3A34IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=A%20genome-wide%20search%20for%20risk%20genes%20using%20homozygosity%20mapping%20and%20microarrays%20with%201,494%20single-nucleotide%20polymorphisms%20in%2022%20eastern%20Cuban%20families%20with%20bipolar%20disorder&rft.jtitle=American%20journal%20of%20medical%20genetics.%20Part%20B,%20Neuropsychiatric%20genetics&rft.au=Ewald,%20H.&rft.date=2005-02-05&rft.volume=133B&rft.issue=1&rft.spage=25&rft.epage=30&rft.pages=25-30&rft.issn=1552-4841&rft.eissn=1552-485X&rft_id=info:doi/10.1002/ajmg.b.30106&rft_dat=%3Cproquest_cross%3E67379580%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=67379580&rft_id=info:pmid/15558715&rfr_iscdi=true |