Genome-wide association analyses of chronotype in 697,828 individuals provides new insights into circadian rhythms in humans and links to disease
Samuel E. Jones,
Jacqueline M Lane,
Andrew R. Wood,
Vincent T. van Hees,
Robin N. Beaumont,
Hassan S Dashti,
Katherine S. Ruth,
Marcus A. Tuke,
William D Thompson,
Jamie W. Harrison,
Enda M. Byrne,
Karla V. Allebrandt,
David W Ray,
Rachel M. Freathy,
Diego R. Mazzotti,
Philip R. Gehrman,
the 23andMe Research Team,
Debbie A. Lawlor,
Timothy M Frayling,
Martin K Rutter,
Michael N. Weedon
Posted 19 Apr 2018
bioRxiv DOI: 10.1101/303941
Posted 19 Apr 2018
Using data from 697,828 research participants from 23andMe and UK Biobank, we identified 351 loci associated with being a morning person, a behavioural indicator of a person's underlying circadian rhythm. These loci were validated in 85,760 individuals with activity-monitor derived measures of sleep timing: the mean sleep timing of the 5% of individuals carrying the most "morningness" alleles was 25.1 minutes (95% CI: 22.5, 27.6) earlier than the 5% carrying the fewest. The loci were enriched for genes involved in circadian rhythm and insulin pathways, and those expressed in the retina, hindbrain, hypothalamus, and pituitary (all FDR<1%). We provide some evidence that being a morning person was causally associated with reduced risk of schizophrenia (OR: 0.89; 95% CI: 0.82, 0.96), depression (OR: 0.94; 95% CI: 0.91, 0.98) and a lower age at last childbirth in women (β: -0.046 years; 95% CI: -0.067, -0.025), but was not associated with BMI (β: -4.6x10-4; 95% CI: -0.044, 0.043) or type 2 diabetes (OR: 1.00; 95% CI: 0.91, 1.1). This study offers new insights into the biology of circadian rhythms and disease links in humans.
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