Evidence map›Paper›PMID 36519390›Full record

ArticleSleep2023

Genome-wide gene by environment study of time spent in daylight and chronotype identifies emerging genetic architecture underlying light sensitivity.

Angus C Burns, Andrew J K Phillips, Martin K Rutter, Richa Saxena, Sean W Cain, Jacqueline M Lane

Open access · hybridAbstract read
In one paragraph

Article in Sleep, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
2.1field-weighted citation impact, top 13% 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

13 citing papers in PubMed, 25 citations in OpenAlex.

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  11. Human-Centric Lighting Research and Policy in the Melanopsin Age.Policy insights from the behavioral and brain sciences · 2023
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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

6 authors at 3 institutions in 3 countries.

Angus C BurnsTurner Institute for Brain and Mental Health, School of Psychological Sciences, Monash University, Melbourne, Victoria, Australia.ORCID 0000-0001-6336-5531
Andrew J K PhillipsTurner Institute for Brain and Mental Health, School of Psychological Sciences, Monash University, Melbourne, Victoria, Australia.ORCID 0000-0003-1156-7056
Martin K RutterDivision of Endocrinology, Diabetes & Gastroenterology, School of Medical Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Richa SaxenaCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.
Sean W CainTurner Institute for Brain and Mental Health, School of Psychological Sciences, Monash University, Melbourne, Victoria, Australia.ORCID 0000-0002-8385-1550
Jacqueline M LaneCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.
Broad Institute · USMonash University · AUManchester Academic Health Science Centre · GB

Funding

Leveraging human genetics to overcome complex diagnostic challenges, evaluation of pan-ancestry polygenic scores to reduce misdiagnosis of narcolepsy and circadian rhythm sleep wake disorders.R01HG012810 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI Daniel J Gottlieb · 2023 to 2026
$2.6M
Genetic and molecular basis of circadian rhythm disordersK01HL136884 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI LANE, JACQUELINE MARIE · 2018 to 2022
$848k
Medical Research Council MC_PC_17228NHGRI NIH HHS R01 HG012810NHLBI NIH HHS K01 HL136884
6 · The paper itself

Abstract

STUDY

objectivesLight is the primary stimulus for synchronizing the circadian clock in humans. There are very large interindividual differences in the sensitivity of the circadian clock to light. Little is currently known about the genetic basis for these interindividual differences.

methodsWe performed a genome-wide gene-by-environment interaction study (GWIS) in 280 897 individuals from the UK Biobank cohort to identify genetic variants that moderate the effect of daytime light exposure on chronotype (individual time of day preference), acting as "light sensitivity" variants for the impact of daylight on the circadian system.

resultsWe identified a genome-wide significant SNP mapped to the ARL14EP gene (rs3847634; p < 5 × 10-8), where additional minor alleles were found to enhance the morningness effect of daytime light exposure (βGxE = -.03, SE = 0.005) and were associated with increased gene ARL14EP expression in brain and retinal tissues. Gene-property analysis showed light sensitivity loci were enriched for genes in the G protein-coupled glutamate receptor signaling pathway and genes expressed in Per2+ hypothalamic neurons. Linkage disequilibrium score regression identified Bonferroni significant genetic correlations of greater light sensitivity GWIS with later chronotype and shorter sleep duration. Greater light sensitivity was nominally genetically correlated with insomnia symptoms and risk for post-traumatic stress disorder (PTSD).

conclusionsThis study is the first to assess light as an important exposure in the genomics of chronotype and is a critical first step in uncovering the genetic architecture of human circadian light sensitivity and its links to sleep and mental health.

Indexed as

Circadian ClocksSleep Initiation and Maintenance DisordersSleep Wake DisordersChronotypeCircadian RhythmGenomeHumansSleepchronotypecircadian rhythmsdaylightgene by environmentGWASlight sensitivitymood disordersPTSDsleep

Identifiers

PMID36519390
PMCPMC9995784
OpenAlexW4311581946

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.