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Genome-wide association analyses in > 119,000 individuals identifies thirteen morningness and two sleep duration loci

Samuel E. Jones, Jessica Tyrrell, Andrew R. Wood, Robin N. Beaumont, Katherine S. Ruth, Marcus A. Tuke, Hanieh Yaghootkar, Youna Hu, Maris Teder-Laving, Caroline Hayward, Till Roenneberg, James F. Wilson, Fabiola Del Greco, Andrew A. Hicks, Chol Shin, Chang-Ho Yun, Seung Ku Lee, Andres Metspalu, Enda M. Byrne, Philip R. Gehrman, Henning Tiemeier, Karla V. Allebrandt, Rachel M. Freathy, Anna Murray, David A. Hinds, Timothy M. Frayling, Michael N. Weedon
doi: https://doi.org/10.1101/031369
Samuel E. Jones
1Genetics of Complex Traits, University of Exeter Medical School, Exeter, U.K
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Jessica Tyrrell
1Genetics of Complex Traits, University of Exeter Medical School, Exeter, U.K
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Andrew R. Wood
1Genetics of Complex Traits, University of Exeter Medical School, Exeter, U.K
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Robin N. Beaumont
1Genetics of Complex Traits, University of Exeter Medical School, Exeter, U.K
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Katherine S. Ruth
1Genetics of Complex Traits, University of Exeter Medical School, Exeter, U.K
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Marcus A. Tuke
1Genetics of Complex Traits, University of Exeter Medical School, Exeter, U.K
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Hanieh Yaghootkar
1Genetics of Complex Traits, University of Exeter Medical School, Exeter, U.K
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Youna Hu
223andMe Inc., 899 W. Evelyn Avenue, Mountain View, California 94041, USA
3A9.com Inc, Palo Alto, California 94301, USA
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Maris Teder-Laving
4Estonian Genome Center and Institute of Molecular and Cell Biology of University of Tartu, Estonian Biocentre, Tartu, Estonia
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Caroline Hayward
5Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh, Scotland
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Till Roenneberg
6Institute of Medical Psychology, Ludwig-Maximilians-University, Munich, Germany
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James F. Wilson
5Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh, Scotland
7Usher Institute for Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, Scotland
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Fabiola Del Greco
8Center for Biomedicine, European Academy of Bolzano, Bozen, Italy – affiliated Institute of the University of Lübeck, Germany
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Andrew A. Hicks
8Center for Biomedicine, European Academy of Bolzano, Bozen, Italy – affiliated Institute of the University of Lübeck, Germany
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Chol Shin
9Division of Pulmonary, Sleep and Critical Care Medicine, Department of Internal Medicine, Korea University Ansan Hospital, Ansan, Republic of Korea
10Institute of Human Genomic Study, College of Medicine, Korea University Ansan Hospital, Ansan, Republic of Korea
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Chang-Ho Yun
11Department of Neurology, Bundang Clinical Neuroscience Institute, Seoul National University Bundang Hospital, Seongnam, Republic of Korea
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Seung Ku Lee
12Institute of Human Genomic Study, College of Medicine, Korea University Ansan Hospital, Ansan, Republic of Korea
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Andres Metspalu
4Estonian Genome Center and Institute of Molecular and Cell Biology of University of Tartu, Estonian Biocentre, Tartu, Estonia
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Enda M. Byrne
13The University of Queensland, Queensland Brain Institute, Brisbane, Australia
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Philip R. Gehrman
14Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, U.S.A.
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Henning Tiemeier
15Department of Epidemiology, Erasmus Medical Center, Rotterdam, Netherlands
16Department of Psychiatry, Erasmus Medical Center, Rotterdam, Netherlands
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Karla V. Allebrandt
6Institute of Medical Psychology, Ludwig-Maximilians-University, Munich, Germany
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Rachel M. Freathy
1Genetics of Complex Traits, University of Exeter Medical School, Exeter, U.K
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Anna Murray
1Genetics of Complex Traits, University of Exeter Medical School, Exeter, U.K
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David A. Hinds
223andMe Inc., 899 W. Evelyn Avenue, Mountain View, California 94041, USA
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Timothy M. Frayling
1Genetics of Complex Traits, University of Exeter Medical School, Exeter, U.K
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Michael N. Weedon
1Genetics of Complex Traits, University of Exeter Medical School, Exeter, U.K
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  • For correspondence: M.N.Weedon@exeter.ac.uk
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Abstract

Disrupted circadian rhythms and reduced sleep duration are associated with several human diseases, particularly obesity and type 2 diabetes, but little is known about the genetic factors influencing these heritable traits. We performed genome-wide association studies of self-reported chronotype (morning/evening person) and self-reported sleep duration in 128,266 White British individuals from the UK Biobank study. Sixteen variants were associated with chronotype (P<5x10-8), including variants near the known circadian rhythm genes RGS16 (1.21 odds of morningness [95%CI 1.15, 1.27], P=3x10-12) and PER2 (1.09 odds of morningness [95%CI 1.06, 1.12], P=4x10-10). The PER2 signal has previously been associated with iris function. We sought replication using self-reported data from 89,823 23andMe participants; thirteen of the chronotype signals remained significant at P<5x10-8 on meta-analysis and eleven of these reached P<0.05 in the same direction in the 23andMe study. For sleep duration, we replicated one known signal in PAX8 (2.6 [95%CIs 1.9, 3.2] minutes per allele P=5.7x10-16) and identified and replicated two novel associations at VRK2 (2.0 [95% CI: 1.3, 2.7] minutes per allele, P=1.2x10-9; and 1.6 [95% CI: 1.1, 2.2] minutes per allele, P=7.6x10-9). Although we found genetic correlation between chronotype and BMI (rG=0.056, P=0.048); undersleeping and BMI (rG=0.147, P=1x10-5) and oversleeping and BMI (rG=0.097, P=0.039), Mendelian Randomisation analyses provided no consistent evidence of causal associations between BMI or type 2 diabetes and chronotype or sleep duration. Our study provides new insights into the biology of sleep and circadian rhythms in humans.

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Posted February 02, 2016.
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Genome-wide association analyses in > 119,000 individuals identifies thirteen morningness and two sleep duration loci
Samuel E. Jones, Jessica Tyrrell, Andrew R. Wood, Robin N. Beaumont, Katherine S. Ruth, Marcus A. Tuke, Hanieh Yaghootkar, Youna Hu, Maris Teder-Laving, Caroline Hayward, Till Roenneberg, James F. Wilson, Fabiola Del Greco, Andrew A. Hicks, Chol Shin, Chang-Ho Yun, Seung Ku Lee, Andres Metspalu, Enda M. Byrne, Philip R. Gehrman, Henning Tiemeier, Karla V. Allebrandt, Rachel M. Freathy, Anna Murray, David A. Hinds, Timothy M. Frayling, Michael N. Weedon
bioRxiv 031369; doi: https://doi.org/10.1101/031369
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Genome-wide association analyses in > 119,000 individuals identifies thirteen morningness and two sleep duration loci
Samuel E. Jones, Jessica Tyrrell, Andrew R. Wood, Robin N. Beaumont, Katherine S. Ruth, Marcus A. Tuke, Hanieh Yaghootkar, Youna Hu, Maris Teder-Laving, Caroline Hayward, Till Roenneberg, James F. Wilson, Fabiola Del Greco, Andrew A. Hicks, Chol Shin, Chang-Ho Yun, Seung Ku Lee, Andres Metspalu, Enda M. Byrne, Philip R. Gehrman, Henning Tiemeier, Karla V. Allebrandt, Rachel M. Freathy, Anna Murray, David A. Hinds, Timothy M. Frayling, Michael N. Weedon
bioRxiv 031369; doi: https://doi.org/10.1101/031369

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