Evidence map›Paper›PMID 25660813›Full record

ArticleSleep medicine2015

Genetic variants associated with sleep disorders.

Daniel F Kripke, Lawrence E Kline, Caroline M Nievergelt, Sarah S Murray, Farhad F Shadan, Arthur Dawson, J Steven Poceta, John Cronin, Shazia M Jamil, Gregory J Tranah and 3 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Sleep medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 4 pooled it
2.7field-weighted citation impact, top 11% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

20 citing papers in PubMed, 4 syntheses or guidelines pooled it, 39 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Article
  6. Article
  7. Review
  8. Childhood Trauma and Suicide: The Mediating Effect of Stress and Sleep.International journal of environmental research and public health · 2022
    Article
  9. Combined Association BetweenNature and science of sleep · 2022
    Article
  10. Article
  11. Review
  12. Article
  13. Article
  14. Article
  15. Article
  16. Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology · 2017
    Article
  17. Review
  18. Article
  19. Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino Americans.American journal of respiratory and critical care medicine · 2016
    Article
  20. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 7 institutions in 1 country.

Daniel F KripkeViterbi Family Sleep Center, Scripps Clinic, La Jolla, CA, USA; Department of Psychiatry, University of California, San Diego, La Jolla, CA, USA. Electronic address: dkripke1@san.rr.com.
Lawrence E KlineViterbi Family Sleep Center, Scripps Clinic, La Jolla, CA, USA.
Caroline M NievergeltDepartment of Psychiatry, University of California, San Diego, La Jolla, CA, USA.
Sarah S MurrayDepartment of Pathology, Center for Advanced Laboratory Medicine, University of California, San Diego, CA, USA.
Farhad F ShadanViterbi Family Sleep Center, Scripps Clinic, La Jolla, CA, USA.
Arthur DawsonViterbi Family Sleep Center, Scripps Clinic, La Jolla, CA, USA.
J Steven PocetaViterbi Family Sleep Center, Scripps Clinic, La Jolla, CA, USA.
John CroninViterbi Family Sleep Center, Scripps Clinic, La Jolla, CA, USA.
Shazia M JamilViterbi Family Sleep Center, Scripps Clinic, La Jolla, CA, USA.
Gregory J TranahCalifornia Pacific Medical Center Research Institute, San Francisco, CA, USA.
Richard T LovingSharp Mesa Vista Hospital, San Diego, CA, USA.
Alexandra P GrizasThe Advisory Board Company, Washington, DC, USA.
Elizabeth K HahnCTICU, Children's Hospital, Los Angeles, CA, USA.
Scripps Clinic · USUniversity of California San Diego · USAdvisory Board Company (United States) · USCalifornia Pacific Medical Center · USChildren's Hospital of Los Angeles · USScripps Health · USSharp Grossmont Hospital · US

Funding

SCRIPPS TRANSLATIONAL SCIENCE INSTITUTE (UL1)UL1RR025774 · NCRR · SCRIPPS RESEARCH INSTITUTE, THE · PI TOPOL, ERIC JEFFREY · 2008 to 2011
$16.3M
Circadian rhythm genes and sleep disturbances in the elderlyR01AG030474 · NIA · CALIFORNIA PACIFIC MED CTR RES INSTITUTE · PI TRANAH, GREGORY J. · 2008 to 2010
$1.4M
NCRR NIH HHS 5 UL1 RR025774NCRR NIH HHS UL1 RR025774NIA NIH HHS R01 AG030474NIA NIH HHS R01AG030474
6 · The paper itself

Abstract

objectiveThe diagnostic boundaries of sleep disorders are under considerable debate. The main sleep disorders are partly heritable; therefore, defining heritable pathophysiologic mechanisms could delineate diagnoses and suggest treatment. We collected clinical data and DNA from consenting patients scheduled to undergo clinical polysomnograms, to expand our understanding of the polymorphisms associated with the phenotypes of particular sleep disorders.

methodsPatients at least 21 years of age were recruited to contribute research questionnaires, and to provide access to their medical records, saliva for deoxyribonucleic acid (DNA), and polysomnographic data. From these complex data, 38 partly overlapping phenotypes were derived indicating complaints, subjective and objective sleep timing, and polysomnographic disturbances. A custom chip was used to genotype 768 single-nucleotide polymorphisms (SNPs). Additional assays derived ancestry-informative markers (eg, 751 participants of European ancestry). Linear regressions controlling for age, gender, and ancestry were used to assess the associations of each phenotype with each of the SNPs, highlighting those with Bonferroni-corrected significance.

resultsIn peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), rs6888451 was associated with several markers of obstructive sleep apnea. In aryl hydrocarbon receptor nuclear translocator-like (ARNTL), rs10766071 was associated with decreased polysomnographic sleep duration. The association of rs3923809 in BTBD9 with periodic limb movements in sleep was confirmed. SNPs in casein kinase 1 delta (CSNK1D rs11552085), cryptochrome 1 (CRY1 rs4964515), and retinoic acid receptor-related orphan receptor A (RORA rs11071547) were less persuasively associated with sleep latency and time of falling asleep.

conclusionsSNPs associated with several sleep phenotypes were suggested, but due to risks of false discovery, independent replications are needed before the importance of these associations can be assessed, followed by investigation of molecular mechanisms.

Indexed as

AdultARNTL Transcription FactorsCarrier ProteinsCasein Kinase IICryptochromesFemaleGenetic Association StudiesHumansMaleNerve Tissue ProteinsNocturnal Myoclonus SyndromeNuclear Receptor Subfamily 1, Group F, Member 1Oligonucleotide Array Sequence AnalysisPolymorphism, Single NucleotidePolysomnographyRNA-Binding ProteinsARNTL Transcription FactorsBMAL1 protein, humanBTBD9 protein, humanCarrier ProteinsCasein Kinase IICRY1 protein, humanCryptochromesCSNK2A1 protein, humanNerve Tissue ProteinsNuclear Receptor Subfamily 1, Group F, Member 1PPARGC1B protein, humanRNA-Binding ProteinsRORA protein, humanTranscription FactorsDIMSPPARGC1Brs10766071rs3923809Sleep apneaSleep-related periodic leg movements

Identifiers

PMID25660813
PMCPMC4352103
OpenAlexW2091128974

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-SA
Read underepoch 390

Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.