GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person
Open accessAbstract
Circadian rhythms are a nearly universal feature of living organisms and affect almost every biological process. Our innate preference for mornings or evenings is determined by the phase of our circadian rhythms. We conduct a genome-wide association analysis of self-reported morningness, followed by analyses of biological pathways and related phenotypes. We identify 15 significantly associated loci, including seven near established circadian genes (rs12736689 near RGS16, P=7.0 × 10(-18); rs9479402 near VIP, P=3.9 × 10(-11); rs55694368 near PER2, P=2.6 × 10(-9); rs35833281 near HCRTR2, P=3.7 × 10(-9); rs11545787 near RASD1, P=1.4 × 10(-8); rs11121022 near PER3, P=2.0 × 10(-8); rs9565309 near FBXL3, P=3.5 × 10(-8). Circadian and phototransduction pathways are enriched in our results. Morningness is associated with insomnia and other sleep phenotypes; and is associated with body mass index and depression but we did not find evidence for a causal relationship in our Mendelian randomization analysis. Our findings reinforce current understanding of circadian biology and will guide future studies.
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Genome-wide association studies using questionnaire-based chronotype evaluations have characterized important polymorphisms in regions containing known clock genes as well as other loci.
“More recently, genome-wide association studies that used questionnaire-based evaluations of individual chronotypes have characterized important polymorphisms in regions containing known clock genes as well as other loci (40–43).”
From Chronotype: Implications for Epidemiologic Studies on Chrono-Nutrition and Cardiometabolic Health (2019) · cites this paper as [40]
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- Authors
- Hu, Y., Shmygelska, A., Tran, D., Eriksson, N., Tung, J. Y., & Hinds, D. A.
- Affiliations
- 23andMe (United States) (US)
- Corresponding author
- Hu, Youna
- Hinds, David A.
- Venue
- Nature Communications
- Published
- 2016-02-02
- Volume
- 7
- Issue
- 1
- Pages
- 10448-10448
- ISSN
- 2041-1723 (ISSN-L)
- PMC
- PMC4740817
- OpenAlex
- W2271135623
- Cited by
- 321
- References
- 70
- Citations by year
- 2026: 10 · 2025: 24 · 2024: 21 · 2023: 16 · 2022: 23 · 2021: 28 · 2020: 38 · 2019: 44 · 2018: 42 · 2017: 45 · 2016: 29
- FWCI
- 33.93
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Nature Communications (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- National Institutes of Health (5r44hg006981-03)
- National Human Genome Research Institute (R44-HG006981)
- Topics
- Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Circadian rhythm and melatonin
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Social Sciences › Psychology › Experimental and Cognitive Psychology › Sleep and related disorders
- Keywords
- morningness, circadian rhythm, chronotype, circadian genes, Per2, Per3, RASD1, VIP, hypocretin receptor 2, FBXL3, phototransduction, insomnia, sleep phenotypes, body mass index, depression, genetic variants
- MeSH terms
- Adult, Circadian Rhythm, Depression, Female, Humans, Sleep Initiation and Maintenance Disorders, Male, Middle Aged, Sleep Apnea Syndromes, Genetic Variation, Vasoactive Intestinal Peptide, Body Mass Index, ras Proteins, Polymorphism, Single Nucleotide, RGS Proteins, F-Box Proteins, Genome-Wide Association Study, Period Circadian Proteins, Mendelian Randomization Analysis, Orexin Receptors
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