Genetic contributions to circadian activity rhythm and sleep pattern phenotypes in pedigrees segregating for severe bipolar disorder

ABSTRACT: Abnormalities in sleep and circadian rhythms are central features of bipolar disorder (BP), often persisting between episodes. We report here, to our knowledge, the first systematic analysis of circadian rhythm activity in pedigrees segregating severe BP (BP-I). By analyzing actigraphy dat...

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Autores:
Gómez Makhinson, Juliana
López Tobón, María Cecilia
Montoya Montoya, Gabriel
Montoya Guerra, Claudia Patricia
Ospina Duque, Jorge
López Jaramillo, Carlos Alberto
Pagani, Lucia
Clair, Patricia
Teshiba, Terri
Service, Susan
Fears, Scott
Araya, Carmen
Araya, Xinia
Bejarano, Julio
Ramírez, Margarita
Castrillón, Gabriel
Aldana, Ileana
Navarro, Linda
Freimer, Daniel
Safaie, Brian
Keung, Lap Woon
Greenspan, Kiefer
Chou, Katty
Escobar, Javier
Kremeyer, Barbara
Ruiz Linares, Andrés
Cantor, Rita
Macaya, Gabriel
Molina, Julio
Reus, Victor
Sabatti, Chiara
Bearden, Carrie
Takahashi, Joseph
Freimer, Nelson
Tipo de recurso:
Article of investigation
Fecha de publicación:
2015
Institución:
Universidad de Antioquia
Repositorio:
Repositorio UdeA
Idioma:
eng
OAI Identifier:
oai:bibliotecadigital.udea.edu.co:10495/19266
Acceso en línea:
http://hdl.handle.net/10495/19266
Palabra clave:
Trastorno Bipolar
Bipolar disorder
Endofenotipos
Endophenotypes
Ritmo Circadiano
Circadian rhythms
Actigrafía
Actigraphy
Conducta
Behavior
Rights
openAccess
License
http://creativecommons.org/licenses/by/2.5/co/
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network_acronym_str UDEA2
network_name_str Repositorio UdeA
repository_id_str
dc.title.spa.fl_str_mv Genetic contributions to circadian activity rhythm and sleep pattern phenotypes in pedigrees segregating for severe bipolar disorder
title Genetic contributions to circadian activity rhythm and sleep pattern phenotypes in pedigrees segregating for severe bipolar disorder
spellingShingle Genetic contributions to circadian activity rhythm and sleep pattern phenotypes in pedigrees segregating for severe bipolar disorder
Trastorno Bipolar
Bipolar disorder
Endofenotipos
Endophenotypes
Ritmo Circadiano
Circadian rhythms
Actigrafía
Actigraphy
Conducta
Behavior
title_short Genetic contributions to circadian activity rhythm and sleep pattern phenotypes in pedigrees segregating for severe bipolar disorder
title_full Genetic contributions to circadian activity rhythm and sleep pattern phenotypes in pedigrees segregating for severe bipolar disorder
title_fullStr Genetic contributions to circadian activity rhythm and sleep pattern phenotypes in pedigrees segregating for severe bipolar disorder
title_full_unstemmed Genetic contributions to circadian activity rhythm and sleep pattern phenotypes in pedigrees segregating for severe bipolar disorder
title_sort Genetic contributions to circadian activity rhythm and sleep pattern phenotypes in pedigrees segregating for severe bipolar disorder
dc.creator.fl_str_mv Gómez Makhinson, Juliana
López Tobón, María Cecilia
Montoya Montoya, Gabriel
Montoya Guerra, Claudia Patricia
Ospina Duque, Jorge
López Jaramillo, Carlos Alberto
Pagani, Lucia
Clair, Patricia
Teshiba, Terri
Service, Susan
Fears, Scott
Araya, Carmen
Araya, Xinia
Bejarano, Julio
Ramírez, Margarita
Castrillón, Gabriel
Aldana, Ileana
Navarro, Linda
Freimer, Daniel
Safaie, Brian
Keung, Lap Woon
Greenspan, Kiefer
Chou, Katty
Escobar, Javier
Kremeyer, Barbara
Ruiz Linares, Andrés
Cantor, Rita
Macaya, Gabriel
Molina, Julio
Reus, Victor
Sabatti, Chiara
Bearden, Carrie
Takahashi, Joseph
Freimer, Nelson
dc.contributor.author.none.fl_str_mv Gómez Makhinson, Juliana
López Tobón, María Cecilia
Montoya Montoya, Gabriel
Montoya Guerra, Claudia Patricia
Ospina Duque, Jorge
López Jaramillo, Carlos Alberto
Pagani, Lucia
Clair, Patricia
Teshiba, Terri
Service, Susan
Fears, Scott
Araya, Carmen
Araya, Xinia
Bejarano, Julio
Ramírez, Margarita
Castrillón, Gabriel
Aldana, Ileana
Navarro, Linda
Freimer, Daniel
Safaie, Brian
Keung, Lap Woon
Greenspan, Kiefer
Chou, Katty
Escobar, Javier
Kremeyer, Barbara
Ruiz Linares, Andrés
Cantor, Rita
Macaya, Gabriel
Molina, Julio
Reus, Victor
Sabatti, Chiara
Bearden, Carrie
Takahashi, Joseph
Freimer, Nelson
dc.contributor.researchgroup.spa.fl_str_mv Grupo de Investigación en Psiquiatría (GIPSI)
dc.subject.decs.none.fl_str_mv Trastorno Bipolar
Bipolar disorder
Endofenotipos
Endophenotypes
Ritmo Circadiano
Circadian rhythms
Actigrafía
Actigraphy
Conducta
Behavior
topic Trastorno Bipolar
Bipolar disorder
Endofenotipos
Endophenotypes
Ritmo Circadiano
Circadian rhythms
Actigrafía
Actigraphy
Conducta
Behavior
description ABSTRACT: Abnormalities in sleep and circadian rhythms are central features of bipolar disorder (BP), often persisting between episodes. We report here, to our knowledge, the first systematic analysis of circadian rhythm activity in pedigrees segregating severe BP (BP-I). By analyzing actigraphy data obtained from members of 26 Costa Rican and Colombian pedigrees [136 euthymic (i.e., interepisode) BP-I individuals and 422 non–BP-I relatives], we delineated 73 phenotypes, of which 49 demonstrated significant heritability and 13 showed significant trait-like association with BP-I. All BP-I–associated traits related to activity level, with BP-I individuals consistently demonstrating lower activity levels than their non–BP-I relatives. We analyzed all 49 heritable phenotypes using genetic linkage analysis, with special emphasis on phenotypes judged to have the strongest impact on the biology underlying BP. We identified a locus for interdaily stability of activity, at a threshold exceeding genome-wide significance, on chromosome 12pter, a region that also showed pleiotropic linkage to two additional activity phenotypes.
publishDate 2015
dc.date.issued.none.fl_str_mv 2015
dc.date.accessioned.none.fl_str_mv 2021-04-08T18:19:24Z
dc.date.available.none.fl_str_mv 2021-04-08T18:19:24Z
dc.type.spa.fl_str_mv Artículo de investigación
dc.type.coar.spa.fl_str_mv http://purl.org/coar/resource_type/c_2df8fbb1
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dc.identifier.citation.spa.fl_str_mv Pagani L, St Clair PA, Teshiba TM, Service SK, Fears SC, Araya C, Araya X, Bejarano J, Ramirez M, Castrillón G, Gomez-Makhinson J, Lopez MC, Montoya G, Montoya CP, Aldana I, Navarro L, Freimer DG, Safaie B, Keung LW, Greenspan K, Chou K, Escobar JI, Ospina-Duque J, Kremeyer B, Ruiz-Linares A, Cantor RM, Lopez-Jaramillo C, Macaya G, Molina J, Reus VI, Sabatti C, Bearden CE, Takahashi JS, Freimer NB. Genetic contributions to circadian activity rhythm and sleep pattern phenotypes in pedigrees segregating for severe bipolar disorder. Proc Natl Acad Sci U S A. 2016 Feb 9;113(6):E754-61. doi: 10.1073/pnas.1513525113.
dc.identifier.issn.none.fl_str_mv 0369-8211
dc.identifier.uri.none.fl_str_mv http://hdl.handle.net/10495/19266
dc.identifier.doi.none.fl_str_mv 10.1073/pnas.1513525113
dc.identifier.eissn.none.fl_str_mv 2250-1746
identifier_str_mv Pagani L, St Clair PA, Teshiba TM, Service SK, Fears SC, Araya C, Araya X, Bejarano J, Ramirez M, Castrillón G, Gomez-Makhinson J, Lopez MC, Montoya G, Montoya CP, Aldana I, Navarro L, Freimer DG, Safaie B, Keung LW, Greenspan K, Chou K, Escobar JI, Ospina-Duque J, Kremeyer B, Ruiz-Linares A, Cantor RM, Lopez-Jaramillo C, Macaya G, Molina J, Reus VI, Sabatti C, Bearden CE, Takahashi JS, Freimer NB. Genetic contributions to circadian activity rhythm and sleep pattern phenotypes in pedigrees segregating for severe bipolar disorder. Proc Natl Acad Sci U S A. 2016 Feb 9;113(6):E754-61. doi: 10.1073/pnas.1513525113.
0369-8211
10.1073/pnas.1513525113
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url http://hdl.handle.net/10495/19266
dc.language.iso.spa.fl_str_mv eng
language eng
dc.relation.ispartofjournalabbrev.spa.fl_str_mv Proc. Natl. Acad. Sci. U. S. A.
dc.relation.citationendpage.spa.fl_str_mv 761
dc.relation.citationissue.spa.fl_str_mv 6
dc.relation.citationstartpage.spa.fl_str_mv 754
dc.relation.citationvolume.spa.fl_str_mv 113
dc.relation.ispartofjournal.spa.fl_str_mv Proceedings of the National Academy of Sciences, India. Section B
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dc.publisher.spa.fl_str_mv Council of the National Academy of Sciences
dc.publisher.place.spa.fl_str_mv Washington, Estados Unidos
institution Universidad de Antioquia
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spelling Gómez Makhinson, JulianaLópez Tobón, María CeciliaMontoya Montoya, GabrielMontoya Guerra, Claudia PatriciaOspina Duque, JorgeLópez Jaramillo, Carlos AlbertoPagani, LuciaClair, PatriciaTeshiba, TerriService, SusanFears, ScottAraya, CarmenAraya, XiniaBejarano, JulioRamírez, MargaritaCastrillón, GabrielAldana, IleanaNavarro, LindaFreimer, DanielSafaie, BrianKeung, Lap WoonGreenspan, KieferChou, KattyEscobar, JavierKremeyer, BarbaraRuiz Linares, AndrésCantor, RitaMacaya, GabrielMolina, JulioReus, VictorSabatti, ChiaraBearden, CarrieTakahashi, JosephFreimer, NelsonGrupo de Investigación en Psiquiatría (GIPSI)2021-04-08T18:19:24Z2021-04-08T18:19:24Z2015Pagani L, St Clair PA, Teshiba TM, Service SK, Fears SC, Araya C, Araya X, Bejarano J, Ramirez M, Castrillón G, Gomez-Makhinson J, Lopez MC, Montoya G, Montoya CP, Aldana I, Navarro L, Freimer DG, Safaie B, Keung LW, Greenspan K, Chou K, Escobar JI, Ospina-Duque J, Kremeyer B, Ruiz-Linares A, Cantor RM, Lopez-Jaramillo C, Macaya G, Molina J, Reus VI, Sabatti C, Bearden CE, Takahashi JS, Freimer NB. Genetic contributions to circadian activity rhythm and sleep pattern phenotypes in pedigrees segregating for severe bipolar disorder. Proc Natl Acad Sci U S A. 2016 Feb 9;113(6):E754-61. doi: 10.1073/pnas.1513525113.0369-8211http://hdl.handle.net/10495/1926610.1073/pnas.15135251132250-1746ABSTRACT: Abnormalities in sleep and circadian rhythms are central features of bipolar disorder (BP), often persisting between episodes. We report here, to our knowledge, the first systematic analysis of circadian rhythm activity in pedigrees segregating severe BP (BP-I). By analyzing actigraphy data obtained from members of 26 Costa Rican and Colombian pedigrees [136 euthymic (i.e., interepisode) BP-I individuals and 422 non–BP-I relatives], we delineated 73 phenotypes, of which 49 demonstrated significant heritability and 13 showed significant trait-like association with BP-I. All BP-I–associated traits related to activity level, with BP-I individuals consistently demonstrating lower activity levels than their non–BP-I relatives. We analyzed all 49 heritable phenotypes using genetic linkage analysis, with special emphasis on phenotypes judged to have the strongest impact on the biology underlying BP. We identified a locus for interdaily stability of activity, at a threshold exceeding genome-wide significance, on chromosome 12pter, a region that also showed pleiotropic linkage to two additional activity phenotypes.COL00291478application/pdfengCouncil of the National Academy of SciencesWashington, Estados Unidoshttp://creativecommons.org/licenses/by/2.5/co/https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2Genetic contributions to circadian activity rhythm and sleep pattern phenotypes in pedigrees segregating for severe bipolar disorderArtículo de investigaciónhttp://purl.org/coar/resource_type/c_2df8fbb1https://purl.org/redcol/resource_type/ARThttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionTrastorno BipolarBipolar disorderEndofenotiposEndophenotypesRitmo CircadianoCircadian rhythmsActigrafíaActigraphyConductaBehaviorProc. Natl. Acad. Sci. U. S. A.7616754113Proceedings of the National Academy of Sciences, India. 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