Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder : fine mapping adds support on chromosomes 6 and 11
Autor(a) principal: | |
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Data de Publicação: | 2004 |
Outros Autores: | , , , , , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.3/3998 |
Resumo: | As part of an extensive study in the Portuguese Island population of families with multiple patients suffering from bipolar disorder and schizophrenia, we performed an initial genome-wide scan of 16 extended families with bipolar disorder that identified three regions on chromosomes 2, 11, and 19 with genome-wide suggestive linkage and several other regions, including chromosome 6q, also approached suggestive levels of significance. Dick et al. [2003: Am J Hum Genet 73:107-114] recently reported in a study of 250 families with bipolar disorder a maxLOD score of 3.61 near marker D6S1021 on chromosome 6q. This study replicates this finding having detected a peak NPL = 2.02 (P = 0.025) with the same marker D6S1021(104.7 Mb). Higher-density mapping provided additional support for loci on chromosome 6 including marker D6S1021 with an NPL = 2.59 (P = 0.0068) and peaking at marker D6S1639 (125 Mb) with an NPL = 3.06 (P = 0.0019). A similar pattern was detected with higher-density mapping of chromosome 11 with an NPL = 3.15 (P = 0.0014) at marker D11S1883 (63.1 Mb). Simulations at the density of our fine mapping data indicate that less than 1 scan out of 10 would find two such scores genome-wide in the same scan by chance. Our findings provide additional support for a susceptibility locus for bipolar disorder on 6q, as well as, suggesting the importance of denser scans. |
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Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder : fine mapping adds support on chromosomes 6 and 11Bipolar DisorderSchizophreniaAs part of an extensive study in the Portuguese Island population of families with multiple patients suffering from bipolar disorder and schizophrenia, we performed an initial genome-wide scan of 16 extended families with bipolar disorder that identified three regions on chromosomes 2, 11, and 19 with genome-wide suggestive linkage and several other regions, including chromosome 6q, also approached suggestive levels of significance. Dick et al. [2003: Am J Hum Genet 73:107-114] recently reported in a study of 250 families with bipolar disorder a maxLOD score of 3.61 near marker D6S1021 on chromosome 6q. This study replicates this finding having detected a peak NPL = 2.02 (P = 0.025) with the same marker D6S1021(104.7 Mb). Higher-density mapping provided additional support for loci on chromosome 6 including marker D6S1021 with an NPL = 2.59 (P = 0.0068) and peaking at marker D6S1639 (125 Mb) with an NPL = 3.06 (P = 0.0019). A similar pattern was detected with higher-density mapping of chromosome 11 with an NPL = 3.15 (P = 0.0014) at marker D11S1883 (63.1 Mb). Simulations at the density of our fine mapping data indicate that less than 1 scan out of 10 would find two such scores genome-wide in the same scan by chance. Our findings provide additional support for a susceptibility locus for bipolar disorder on 6q, as well as, suggesting the importance of denser scans.John Wiley and SonsRepositório da Universidade dos AçoresPato, Carlos N.Pato, Michele T.Kirby, A. N.Petryshen, T. L.Medeiros, HelenaCarvalho, CéliaMacedo, AntónioDourado, A.Coelho, I.Valente, J.Soares, M. J.Ferreira, Carlos PazLei, M.Verner, A.Hudson, T. J.Morley, C. P.Kennedy, J. LAzevedo, Maria H.Daly, M. J.Sklar, P.2017-02-24T18:43:17Z20042004-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.3/3998engPato, C.N.,Pato, M.T., Kirby, A., Petryshen, T.L., Medeiros, H., Carvalho, C., Macedo, A., Dourado, A., Coelho, I., Valente, J., Soares, M.J., Ferreira, C.P., Lei, M., Verner, A., Hudson, T.J., Morley, C.P., Kennedy, J.L., Azevedo, M.H., Daly, M.J., Sklar, P. (2004). Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder: fine mapping adds support on chromosomes 6 and 11. "American Journal of Medical Genetics Part B: Neuropsychiatric Genetics", 127B(1), 30-34.1552-485X10.1002/ajmg.b.30001metadata only accessinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-12-20T14:32:10Zoai:repositorio.uac.pt:10400.3/3998Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:26:30.648785Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder : fine mapping adds support on chromosomes 6 and 11 |
title |
Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder : fine mapping adds support on chromosomes 6 and 11 |
spellingShingle |
Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder : fine mapping adds support on chromosomes 6 and 11 Pato, Carlos N. Bipolar Disorder Schizophrenia |
title_short |
Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder : fine mapping adds support on chromosomes 6 and 11 |
title_full |
Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder : fine mapping adds support on chromosomes 6 and 11 |
title_fullStr |
Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder : fine mapping adds support on chromosomes 6 and 11 |
title_full_unstemmed |
Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder : fine mapping adds support on chromosomes 6 and 11 |
title_sort |
Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder : fine mapping adds support on chromosomes 6 and 11 |
author |
Pato, Carlos N. |
author_facet |
Pato, Carlos N. Pato, Michele T. Kirby, A. N. Petryshen, T. L. Medeiros, Helena Carvalho, Célia Macedo, António Dourado, A. Coelho, I. Valente, J. Soares, M. J. Ferreira, Carlos Paz Lei, M. Verner, A. Hudson, T. J. Morley, C. P. Kennedy, J. L Azevedo, Maria H. Daly, M. J. Sklar, P. |
author_role |
author |
author2 |
Pato, Michele T. Kirby, A. N. Petryshen, T. L. Medeiros, Helena Carvalho, Célia Macedo, António Dourado, A. Coelho, I. Valente, J. Soares, M. J. Ferreira, Carlos Paz Lei, M. Verner, A. Hudson, T. J. Morley, C. P. Kennedy, J. L Azevedo, Maria H. Daly, M. J. Sklar, P. |
author2_role |
author author author author author author author author author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório da Universidade dos Açores |
dc.contributor.author.fl_str_mv |
Pato, Carlos N. Pato, Michele T. Kirby, A. N. Petryshen, T. L. Medeiros, Helena Carvalho, Célia Macedo, António Dourado, A. Coelho, I. Valente, J. Soares, M. J. Ferreira, Carlos Paz Lei, M. Verner, A. Hudson, T. J. Morley, C. P. Kennedy, J. L Azevedo, Maria H. Daly, M. J. Sklar, P. |
dc.subject.por.fl_str_mv |
Bipolar Disorder Schizophrenia |
topic |
Bipolar Disorder Schizophrenia |
description |
As part of an extensive study in the Portuguese Island population of families with multiple patients suffering from bipolar disorder and schizophrenia, we performed an initial genome-wide scan of 16 extended families with bipolar disorder that identified three regions on chromosomes 2, 11, and 19 with genome-wide suggestive linkage and several other regions, including chromosome 6q, also approached suggestive levels of significance. Dick et al. [2003: Am J Hum Genet 73:107-114] recently reported in a study of 250 families with bipolar disorder a maxLOD score of 3.61 near marker D6S1021 on chromosome 6q. This study replicates this finding having detected a peak NPL = 2.02 (P = 0.025) with the same marker D6S1021(104.7 Mb). Higher-density mapping provided additional support for loci on chromosome 6 including marker D6S1021 with an NPL = 2.59 (P = 0.0068) and peaking at marker D6S1639 (125 Mb) with an NPL = 3.06 (P = 0.0019). A similar pattern was detected with higher-density mapping of chromosome 11 with an NPL = 3.15 (P = 0.0014) at marker D11S1883 (63.1 Mb). Simulations at the density of our fine mapping data indicate that less than 1 scan out of 10 would find two such scores genome-wide in the same scan by chance. Our findings provide additional support for a susceptibility locus for bipolar disorder on 6q, as well as, suggesting the importance of denser scans. |
publishDate |
2004 |
dc.date.none.fl_str_mv |
2004 2004-01-01T00:00:00Z 2017-02-24T18:43:17Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.3/3998 |
url |
http://hdl.handle.net/10400.3/3998 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Pato, C.N.,Pato, M.T., Kirby, A., Petryshen, T.L., Medeiros, H., Carvalho, C., Macedo, A., Dourado, A., Coelho, I., Valente, J., Soares, M.J., Ferreira, C.P., Lei, M., Verner, A., Hudson, T.J., Morley, C.P., Kennedy, J.L., Azevedo, M.H., Daly, M.J., Sklar, P. (2004). Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder: fine mapping adds support on chromosomes 6 and 11. "American Journal of Medical Genetics Part B: Neuropsychiatric Genetics", 127B(1), 30-34. 1552-485X 10.1002/ajmg.b.30001 |
dc.rights.driver.fl_str_mv |
metadata only access info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
metadata only access |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
John Wiley and Sons |
publisher.none.fl_str_mv |
John Wiley and Sons |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799130718131978240 |