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Novel loci associated with usual sleep duration: The CHARGE Consortium Genome-Wide Association Study

  • Author(s): Gottlieb, DJ
  • Hek, K
  • Chen, TH
  • Watson, NF
  • Eiriksdottir, G
  • Byrne, EM
  • Cornelis, M
  • Warby, SC
  • Bandinelli, S
  • Cherkas, L
  • Evans, DS
  • Grabe, HJ
  • Lahti, J
  • Li, M
  • Lehtimäki, T
  • Lumley, T
  • Marciante, KD
  • Pérusse, L
  • Psaty, BM
  • Robbins, J
  • Tranah, GJ
  • Vink, JM
  • Wilk, JB
  • Stafford, JM
  • Bellis, C
  • Biffar, R
  • Bouchard, C
  • Cade, B
  • Curhan, GC
  • Eriksson, JG
  • Ewert, R
  • Ferrucci, L
  • Fülöp, T
  • Gehrman, PR
  • Goodloe, R
  • Harris, TB
  • Heath, AC
  • Hernandez, D
  • Hofman, A
  • Hottenga, JJ
  • Hunter, DJ
  • Jensen, MK
  • Johnson, AD
  • Kähönen, M
  • Kao, L
  • Kraft, P
  • Larkin, EK
  • Lauderdale, DS
  • Luik, AI
  • Medici, M
  • Montgomery, GW
  • Palotie, A
  • Patel, SR
  • Pistis, G
  • Porcu, E
  • Quaye, L
  • Raitakari, O
  • Redline, S
  • Rimm, EB
  • Rotter, JI
  • Smith, AV
  • Spector, TD
  • Teumer, A
  • Uitterlinden, AG
  • Vohl, MC
  • Widen, E
  • et al.

Published Web Location

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430294/
No data is associated with this publication.
Abstract

Usual sleep duration is a heritable trait correlated with psychiatric morbidity, cardiometabolic disease and mortality, although little is known about the genetic variants influencing this trait. A genome-wide association study (GWAS) of usual sleep duration was conducted using 18 population-based cohorts totaling 47 180 individuals of European ancestry. Genome-wide significant association was identified at two loci. The strongest is located on chromosome 2, in an intergenic region 35- to 80-kb upstream from the thyroid-specific transcription factor PAX8 (lowest P=1.1 × 10 -9). This finding was replicated in an African-American sample of 4771 individuals (lowest P=9.3 × 10 -4). The strongest combined association was at rs1823125 (P=1.5 × 10 -10, minor allele frequency 0.26 in the discovery sample, 0.12 in the replication sample), with each copy of the minor allele associated with a sleep duration 3.1 min longer per night. The alleles associated with longer sleep duration were associated in previous GWAS with a more favorable metabolic profile and a lower risk of attention deficit hyperactivity disorder. Understanding the mechanisms underlying these associations may help elucidate biological mechanisms influencing sleep duration and its association with psychiatric, metabolic and cardiovascular disease.

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