Evidence map›Paper›PMID 28364486›Full record

ReviewSleep2017

Genetic Basis of Chronotype in Humans: Insights From Three Landmark GWAS.

David A Kalmbach, Logan D Schneider, Joseph Cheung, Sarah J Bertrand, Thiruchelvam Kariharan, Allan I Pack, Philip R Gehrman

Abstract readReview
In one paragraph

Review in Sleep, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 98 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
98citing papers in PubMed, 3 pooled it
–field-weighted citation impact
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

98 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Food Intake According to Clock Gene Polymorphisms: A Systematic Review.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025
    Pooled it
  2. Pooled it
  3. Pooled it
  4. Risk of excessive sleepiness in sleep restriction therapy and cognitive behavioral therapy for insomnia: a randomized controlled trial.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2020
    Trial
  5. Article
  6. Article
  7. Observational
  8. Review
  9. Article
  10. Article
  11. Review
  12. Article
  13. CircadianiScience · 2026
    Article
  14. Review
  15. Article
  16. Article
  17. Early life sleep is associated with longevity inbioRxiv : the preprint server for biology · 2025
    Article
  18. Article
  19. Review
  20. Review

38 more citing papers are in PubMed but not listed here.

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

7 authors.

David A KalmbachDepartments of Psychiatry and Neurology, University of Michigan Medical School, Ann Arbor, MI 48109.
Logan D SchneiderCenter for Sleep Sciences and Medicine, Department of Psychiatry and Behavioral Sciences, Stanford University, Palo Alto, CA 94063.
Joseph CheungCenter for Sleep Sciences and Medicine, Department of Psychiatry and Behavioral Sciences, Stanford University, Palo Alto, CA 94063.
Sarah J BertrandDepartment of Anesthesiology and Critical Care Medicine, Johns Hopkins Hospital School of Medicine, Baltimore, MD 21205.
Thiruchelvam KariharanDepartment of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, MI 48109.
Allan I PackPerelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104.
Philip R GehrmanPerelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104.

Funding

Multi-Institutional Training in Genetic/Genomic Approaches to Sleep DisordersT32HL110952 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI CHERVIN, RONALD D, MIGNOT, EMMANUEL J · 2013 to 2022
$5.0M
Medical Research Council MC_QA137853NHLBI NIH HHS T32 HL110952
6 · The paper itself

Abstract

Study Objectives: Chronotype, or diurnal preference, refers to behavioral manifestations of the endogenous circadian system that governs preferred timing of sleep and wake. As variations in circadian timing and system perturbations are linked to disease development, the fundamental biology of chronotype has received attention for its role in the regulation and dysregulation of sleep and related illnesses. Family studies indicate that chronotype is a heritable trait, thus directing attention toward its genetic basis. Although discoveries from molecular studies of candidate genes have shed light onto its genetic architecture, the contribution of genetic variation to chronotype has remained unclear with few related variants identified. In the advent of large-scale genome-wide association studies (GWAS), scientists now have the ability to discover novel common genetic variants associated with complex phenotypes. Three recent large-scale GWASs of chronotype were conducted on subjects of European ancestry from the 23andMe cohort and the UK Biobank. This review discusses the findings of these landmark GWASs in the context of prior research. Methods: We systematically reviewed and compared methodological and analytical approaches and results across the three GWASs of chronotype. Results: A good deal of consistency was observed across studies with 9 genes identified in 2 of the 3 GWASs. Several genes previously unknown to influence chronotype were identified. Conclusions: GWAS is an important tool in identifying common variants associated with the complex chronotype phenotype, the findings of which can supplement and guide molecular science. Future directions in model systems and discovery of rare variants are discussed.

Indexed as

AnimalsCircadian RhythmGenome-Wide Association StudyHumansPhenotypeSleepWhite Peoplechronotypecircadian rhythmsgeneticsgenome-wide association studysleep

Identifiers

PMID28364486
PMCPMC6084759

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.