title: Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.
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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authors.affiliation: Department of Epidemiology, Erasmus MC, Rotterdam, The Netherlands.|Epidemiological and Social Psychiatric Research Institute, Department of Psychiatry, Erasmus MC, Rotterdam, The Netherlands.|Department of Child and Adolescent Psychiatry, Erasmus MC, Rotterdam, The Netherlands.
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mesh_terms: D000328:Adult; D001741:Black or African American / Q000235:genetics; D000368:Aged; D020920:Dyssomnias / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D057566:Self Report; D012890:Sleep / Q000235:genetics*; D044465:White People / Q000235:genetics