ID
46127
Beschrijving
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.
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- 11-11-24 11-11-24 - Dr. Christian Niklas
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Ying-Hui Fu, PhD, University of California San Francisco, San Francisco, CA, USA
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11 november 2024
DOI
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Creative Commons BY 4.0
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dbGaP phs001270 Sleep and Circadian Disorders Study (SACDS)
The pedigree data table shows family relationships through family IDs, subject IDs, father IDs, mother IDs, and subject's sex.
- StudyEvent: Sleep and Circadian Disorders Study (SACDS)
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent group information, subject source, and affection status of subjects for habitual short sleep time.
- The pedigree data table shows family relationships through family IDs, subject IDs, father IDs, mother IDs, and subject's sex.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use and sample aliases.
- This subject phenotype table includes subject's birthplace, sex, race, and age at blood collection.
- This sample attributes table includes body site where sample was collected, histological type, analyte type, genotyping center, and sequencing center.
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The pedigree data table shows family relationships through family IDs, subject IDs, father IDs, mother IDs, and subject's sex.
- StudyEvent: Sleep and Circadian Disorders Study (SACDS)
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent group information, subject source, and affection status of subjects for habitual short sleep time.
- The pedigree data table shows family relationships through family IDs, subject IDs, father IDs, mother IDs, and subject's sex.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use and sample aliases.
- This subject phenotype table includes subject's birthplace, sex, race, and age at blood collection.
- This sample attributes table includes body site where sample was collected, histological type, analyte type, genotyping center, and sequencing center.
C0030761 (UMLS CUI [1,2])
C0030761 (UMLS CUI [1,2])
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