ID

46127

Description

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.

Lien

dbGaP study id = phs001270

Mots-clés

  1. 11/11/2024 11/11/2024 - Dr. Christian Niklas
Détendeur de droits

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

Téléchargé le

11 novembre 2024

DOI

Pour une demande vous connecter.

Licence

Creative Commons BY 4.0

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dbGaP phs001270 Sleep and Circadian Disorders Study (SACDS)

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.

pht006251
Description

pht006251

Alias
UMLS CUI [1,1]
C1283195
Subject ID
Description

SUBJECT_ID

Type de données

text

Alias
UMLS CUI [1,1]
C2348585
Sample ID
Description

SAMPLE_ID

Type de données

string

Alias
UMLS CUI [1,1]
C1299222
Source repository where samples originate
Description

SAMPLE_SOURCE

Type de données

string

Alias
UMLS CUI [1,1]
C3847505
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C2347026
DNA Sample ID used in the Source Repository
Description

SOURCE_SAMPLE_ID

Type de données

string

Alias
UMLS CUI [1,1]
C1299222
UMLS CUI [1,2]
C3847505
UMLS CUI [1,3]
C0449416
Sample use. Seq_DNA_SNP_CNV: SNP and CNV genotypes derived from sequence data; Seq_DNA_WholeExome: Whole exome sequencing
Description

SAMPLE_USE

Type de données

text

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C1524063

Similar models

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.

Name
Type
Description | Question | Decode (Coded Value)
Type de données
Alias
Item Group
pht006251
C1283195 (UMLS CUI [1,1])
SUBJECT_ID
Item
Subject ID
text
C2348585 (UMLS CUI [1,1])
SAMPLE_ID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
Item
Source repository where samples originate
string
C3847505 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C2347026 (UMLS CUI [1,3])
Code List
Source repository where samples originate
CL Item
no data (0)
Item
DNA Sample ID used in the Source Repository
string
C1299222 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])
Code List
DNA Sample ID used in the Source Repository
CL Item
no data (0)
Item
Sample use. Seq_DNA_SNP_CNV: SNP and CNV genotypes derived from sequence data; Seq_DNA_WholeExome: Whole exome sequencing
text
C2347026 (UMLS CUI [1,1])
C1524063 (UMLS CUI [1,2])
Code List
Sample use. Seq_DNA_SNP_CNV: SNP and CNV genotypes derived from sequence data; Seq_DNA_WholeExome: Whole exome sequencing
CL Item
no data (0)

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