Genetic contributions to circadian activity rhythm and sleep pattern phenotypes in pedigrees segregating for severe bipolar disorder
| Autor: | Lucia Pagani, Patricia A. St. Clair, Terri M. Teshiba, Susan K. Service, Scott C. Fears, Carmen Araya, Xinia Araya, Julio Bejarano, Margarita Ramirez, Gabriel Castrillón, Juliana Gomez-Makhinson, Maria C. Lopez, Gabriel Montoya, Claudia P. Montoya, Ileana Aldana, Linda Navarro, Daniel G. Freimer, Brian Safaie, Lap-Woon Keung, Kiefer Greenspan, Katty Chou, Javier I. Escobar, Jorge Ospina-Duque, Barbara Kremeyer, Andres Ruiz-Linares, Rita M. Cantor, Carlos Lopez-Jaramillo, Gabriel Macaya, Julio Molina, Victor I. Reus, Chiara Sabatti, Carrie E. Bearden, Joseph S. Takahashi, Nelson B. Freimer |
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| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
Male
medicine.medical_specialty Bipolar Disorder Endophenotypes Inheritance Patterns Genome-wide association study Pedigree chart Quantitative trait locus Chromosomes 03 medical and health sciences Quantitative Trait 0302 clinical medicine Genetic linkage medicine Genetics 2.1 Biological and endogenous factors Humans Family Circadian rhythm Bipolar disorder Aetiology Psychiatry Heritable Behavior Multidisciplinary Human Genome Actigraphy Middle Aged medicine.disease Serious Mental Illness 030227 psychiatry Pedigree Brain Disorders Circadian Rhythm Circadian Rhythms Phenotype Mental Health PNAS Plus Endophenotype Pair 1 Female Lod Score Psychology Sleep Research Sleep 030217 neurology & neurosurgery Human |
| Zdroj: | Proceedings of the National Academy of Sciences; Volumen 113, Número 6. 2016. Kérwá Universidad de Costa Rica instacron:UCR Proceedings of the National Academy of Sciences of the United States of America, vol 113, iss 6 |
| Popis: | 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. National Institute of Health/[R01MH075007]/NIH/Estados Unidos National Institute of Health/[R01MH095454]/NIH/Estados Unidos National Institute of Health/[P30NS062691]/NIH/Estados Unidos National Institute of Health/[T32MH073526]/NIH/Estados Unidos National Institute of Health/[K23MH074644-01]/NIH/Estados Unidos National Institute of Health/[K08MH086786]/NIH/Estados Unidos UCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias Básicas::Centro de Investigación en Biología Celular y Molecular (CIBCM) |
| Databáze: | OpenAIRE |
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