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ID

46127

Descrição

Principal Investigator: Ying-Hui Fu, PhD, University of California San Francisco, San Francisco, CA, USA MeSH: Sleep Wake Disorders,Short Sleeper Syndrome,Long Sleeper Syndrome,CLOCK Proteins,Circadian Clocks https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001270 Sleep is essential for life. A good night's sleep is pleasurable and sleep deprivation is stressful. Prolonged sleep loss impairs temperature control, metabolism, immunity, and ultimately leads to death. Extensive observational and epidemiological evidence indicates that optimal sleep duration of 8 hours is associated with the maintenance of good health. In our society, however, most people only get 6.5 - 7 hours. Suboptimal sleep duration has a strong association with mortality and morbidity. Lack of sleep has been linked to cardiovascular diseases, obesity, hypertension, type 2 diabetes, and other health/cognition conditions. It is clear that the biological need for sleep varies dramatically among humans. Sleep and circadian disorders can include Familial Advanced Sleep Phase (FASP), Delayed Sleep Phase (DSP), Advanced Sleep Phase (ASP), Natural Short Sleepers (NSS) or Long Sleeping. In example, Natural Short Sleepers (NSS) have a lifelong tendency to sleep only 4 - 6 hours per night and to awaken refreshed and energetic. Natural Long Sleepers biologically require 9 - 10 hours/night to feel well rested. The 'Sleep and Circadian Disorders Study' (SACDS) at the University of California San Francisco, set out to investigate the mechanisms involved in regulating sleep duration, patterns and sleep quality regulation by identifying and characterization of individuals and families with unusual sleep and circadian rhythm behavior patterns. SACDS participants were screened with a "General Sleep Questionnaire" that inquired about multiple aspects of sleep, including habitual work-day versus non-work day sleep-wake schedules, permits calculation of subjective habitual initial sleep onset, final sleep offset, and number of awakenings. There was an additional screening process including demographic data, sleep, mood, behavioral and general medical questionnaires, plus the study consent. After the extensive screening of 117 participants, blood samples were collected from 38 individuals and of those 10 samples were chosen for whole exome sequencing analysis.

Link

dbGaP study id = phs001270

Palavras-chave

  1. 11/11/2024 11/11/2024 - Dr. Christian Niklas
Titular dos direitos

Ying-Hui Fu, PhD, University of California San Francisco, San Francisco, CA, USA

Transferido a

11 de novembro de 2024

DOI

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Licença

Creative Commons BY 4.0

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    dbGaP phs001270 Sleep and Circadian Disorders Study (SACDS)

    Eligibility Criteria

    Inclusion criteria
    Descrição

    Inclusion criteria

    Alias
    UMLS CUI [1,1]
    C1512693 (Inclusion)
    Habitual total sleep time during the major sleep bout, no greater than 6.5 hours or sleep time requiring 9 - 10 hours/night to feel well rested.
    Descrição

    Elig.phs001270.v1.p1.2

    Tipo de dados

    boolean

    Alias
    UMLS CUI [1,1]
    C2133558 (Sleeping Habits)
    UMLS CUI [1,2]
    C0205164 (Major)
    SNOMED
    255603008
    LOINC
    LA29634-5
    UMLS CUI [1,3]
    C0741605 (bout)
    UMLS CUI [2,1]
    C2937255 (hours of sleep)
    UMLS CUI [2,2]
    C0518214 (Perceived quality of life)
    SNOMED
    405152002
    Recalled age of onset below "middle age" (~ 40-65 years) when homeostatic sleep regulation may decrease and well below "old age" (> ~ 60 years) when capacity for sleep may decrease.
    Descrição

    Elig.phs001270.v1.p1.3

    Tipo de dados

    boolean

    Alias
    UMLS CUI [1,1]
    C0206132 (Age of Onset)
    UMLS CUI [1,2]
    C0037313 (Sleep)
    SNOMED
    258158006
    LOINC
    LA18125-7
    UMLS CUI [1,3]
    C1561987 (Homeostatic mechanism)
    SNOMED
    417087006
    UMLS CUI [2,1]
    C0206132 (Age of Onset)
    UMLS CUI [2,2]
    C0037313 (Sleep)
    SNOMED
    258158006
    LOINC
    LA18125-7
    UMLS CUI [2,3]
    C1516240 (Capacity)
    Over 22 years of age for the 10 WES samples.
    Descrição

    Elig.phs001270.v1.p1.4

    Tipo de dados

    boolean

    Alias
    UMLS CUI [1,1]
    C0001779 (Age)
    SNOMED
    424144002
    LOINC
    LP28815-6
    UMLS CUI [1,2]
    C3640077 (Whole Exome Sequencing)
    Familially related to one other individual in the study
    Descrição

    Elig.phs001270.v1.p1.5

    Tipo de dados

    boolean

    Alias
    UMLS CUI [1,1]
    C0030761 (genetic pedigree)
    UMLS CUI [1,2]
    C0205394 (Other)
    SNOMED
    74964007
    LOINC
    LP21049-9
    UMLS CUI [1,3]
    C2348568 (Study Subject Participation Status)
    Exclusion criteria
    Descrição

    Exclusion criteria

    Alias
    UMLS CUI [1,1]
    C0680251 (Exclusion Criteria)
    Absence of any psycho-social or man-made environmental influences that would affect sleep (e.g. early job start time, alarm clock, caffeine, medications, etc).
    Descrição

    Elig.phs001270.v1.p1.7

    Tipo de dados

    boolean

    Alias
    UMLS CUI [1,1]
    C0332197 (Absent)
    SNOMED
    2667000
    LOINC
    LA9634-2
    UMLS CUI [1,2]
    C0748073 (psychosocial stressor)
    UMLS CUI [2,1]
    C0332197 (Absent)
    SNOMED
    2667000
    LOINC
    LA9634-2
    UMLS CUI [2,2]
    C0014412 (Environmental Exposure)

    Similar models

    Eligibility Criteria

    Name
    Tipo
    Description | Question | Decode (Coded Value)
    Tipo de dados
    Alias
    Item Group
    Inclusion criteria
    C1512693 (UMLS CUI [1,1])
    Elig.phs001270.v1.p1.2
    Item
    Habitual total sleep time during the major sleep bout, no greater than 6.5 hours or sleep time requiring 9 - 10 hours/night to feel well rested.
    boolean
    C2133558 (UMLS CUI [1,1])
    C0205164 (UMLS CUI [1,2])
    C0741605 (UMLS CUI [1,3])
    C2937255 (UMLS CUI [2,1])
    C0518214 (UMLS CUI [2,2])
    Elig.phs001270.v1.p1.3
    Item
    Recalled age of onset below "middle age" (~ 40-65 years) when homeostatic sleep regulation may decrease and well below "old age" (> ~ 60 years) when capacity for sleep may decrease.
    boolean
    C0206132 (UMLS CUI [1,1])
    C0037313 (UMLS CUI [1,2])
    C1561987 (UMLS CUI [1,3])
    C0206132 (UMLS CUI [2,1])
    C0037313 (UMLS CUI [2,2])
    C1516240 (UMLS CUI [2,3])
    Elig.phs001270.v1.p1.4
    Item
    Over 22 years of age for the 10 WES samples.
    boolean
    C0001779 (UMLS CUI [1,1])
    C3640077 (UMLS CUI [1,2])
    Elig.phs001270.v1.p1.5
    Item
    Familially related to one other individual in the study
    boolean
    C0030761 (UMLS CUI [1,1])
    C0205394 (UMLS CUI [1,2])
    C2348568 (UMLS CUI [1,3])
    Item Group
    Exclusion criteria
    C0680251 (UMLS CUI [1,1])
    Elig.phs001270.v1.p1.7
    Item
    Absence of any psycho-social or man-made environmental influences that would affect sleep (e.g. early job start time, alarm clock, caffeine, medications, etc).
    boolean
    C0332197 (UMLS CUI [1,1])
    C0748073 (UMLS CUI [1,2])
    C0332197 (UMLS CUI [2,1])
    C0014412 (UMLS CUI [2,2])

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