Novel loci associated with usual sleep duration: The CHARGE Consortium Genome-Wide Association Study
Molecular Psychiatry , Volume 20 - Issue 10 p. 1232- 1239
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.
|Organisation||Department of Child and Adolescent Psychiatry and Psychology|
Gottlieb, D.J, Hek, K, Chen, T.-H, Watson, N.F, Eiriksdottir, G, Byrne, E.M, … Tiemeier, H.W. (2015). Novel loci associated with usual sleep duration: The CHARGE Consortium Genome-Wide Association Study. Molecular Psychiatry, 20(10), 1232–1239. doi:10.1038/mp.2014.133