Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci

PLoS Genetics

Volumn 12, Issue 8, 2016, Pages

  Jones, Samuel E ^a   Tyrrell, Jessica ^a   Wood, Andrew R ^a   Beaumont, Robin N ^a   Ruth, Katherine S ^a   Tuke, Marcus A ^a   Yaghootkar, Hanieh ^a   Hu, Youna ^b,c   Teder Laving, Maris ^d   Hayward, Caroline ^e   Roenneberg, Till ^f   Wilson, James F ^e,g   Del Greco, Fabiola ^h,n   Hicks, Andrew A ^h,n   Shin, Chol ⁱ   Yun, Chang Ho ^j   Lee, Seung Ku ⁱ   Metspalu, Andres ^d   Byrne, Enda M ^k   Gehrman, Philip R ^l   Tiemeier, Henning ^m   Allebrandt, Karla V ^f   Freathy, Rachel M ^a   Murray, Anna ^a   Hinds, David A ^b   Frayling, Timothy M ^a   Weedon, Michael N ^a   more..

^a UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

^b 23andMe Inc ^*  (United States)

^c AMAZON   (United States)

^d UNIVERSITY OF TARTU   (Estonia)

^e UNIVERSITY OF EDINBURGH   (United Kingdom)

^f UNIVERSITY OF MUNICH   (Germany)

^g UNIVERSITY OF EDINBURGH   (United Kingdom)

^h University of Lubeck   (Italy)

ⁱ Korea University College of Medicine   (South Korea)

^j Seoul National University Bundang Hospital   (South Korea)

^k UNIVERSITY OF QUEENSLAND   (Australia)

^l UNIVERSITY OF PENNSYLVANIA   (United States)

^m ERASMUS MEDICAL CENTER   (Netherlands)

ⁿ UNIVERSITY OF LÜBECK   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PER2 PROTEIN; TRANSCRIPTION FACTOR PAX8; PAX8 PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE; VRK2 PROTEIN, HUMAN;

ARTICLE; BODY MASS; CHRONOTYPE; CIRCADIAN RHYTHM; COGNITION; CONTROLLED STUDY; GENE; GENE FREQUENCY; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC CORRELATION; GENETIC VARIABILITY; HTR6 GENE; HUMAN; INADL GENE; MORNINGNESS; NON INSULIN DEPENDENT DIABETES MELLITUS; PAX8 GENE; PER2 GENE; RGS16 GENE; SELF REPORT; SLEEP TIME; UNITED KINGDOM; VRK2 GENE; CAUCASIAN; FEMALE; GENETICS; GENOME-WIDE ASSOCIATION STUDY; MALE; MENDELIAN RANDOMIZATION ANALYSIS; META ANALYSIS; OBESITY; PATHOLOGY; PHYSIOLOGY; SLEEP;

BODY MASS INDEX; CIRCADIAN RHYTHM; DIABETES MELLITUS, TYPE 2; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MENDELIAN RANDOMIZATION ANALYSIS; OBESITY; PAX8 TRANSCRIPTION FACTOR; PROTEIN-SERINE-THREONINE KINASES; SLEEP;

EID: 84984916617     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1006125     Document Type: Article

References (41)

1. Dibner C, Schibler U, (2015) Circadian timing of metabolism in animal models and humans. J Intern Med277: 513–527. doi: 10.1111/joim.1234725599827
2. Duffy JF, Czeisler CA, (2002) Age-related change in the relationship between circadian period, circadian phase, and diurnal preference in humans. Neurosci Lett318: 117–120. 11803113
3. von Schantz M, Taporoski TP, Horimoto AR, Duarte NE, Vallada H, Krieger JE, et al. (2015) Distribution and heritability of diurnal preference (chronotype) in a rural Brazilian family-based cohort, the Baependi study. Sci Rep5: 9214. doi: 10.1038/srep0921425782397
4. Cappuccio FP, Taggart FM, Kandala NB, Currie A, Peile E, Stranges S, et al. (2008) Meta-analysis of short sleep duration and obesity in children and adults. Sleep31: 619–626. 18517032
5. Schmid SM, Hallschmid M, Schultes B, (2015) The metabolic burden of sleep loss. Lancet Diabetes Endocrinol3: 52–62. doi: 10.1016/S2213-8587(14)70012-924731536
6. Reutrakul S, Hood MM, Crowley SJ, Morgan MK, Teodori M, Knutson KL, et al. (2013) Chronotype is independently associated with glycemic control in type 2 diabetes. Diabetes Care36: 2523–2529. doi: 10.2337/dc12-269723637357
7. Yu JH, Yun CH, Ahn JH, Suh S, Cho HJ, Lee SK, et al. (2015) Evening chronotype is associated with metabolic disorders and body composition in middle-aged adults. J Clin Endocrinol Metab100: 1494–1502. doi: 10.1210/jc.2014-375425831477
8. Kohsaka A, Laposky AD, Ramsey KM, Estrada C, Joshu C, Kobayashi Y, et al. (2007) High-fat diet disrupts behavioral and molecular circadian rhythms in mice. Cell Metab6: 414–421. 17983587
9. Marcheva B, Ramsey KM, Buhr ED, Kobayashi Y, Su H, Ko CH, et al. (2010) Disruption of the clock components CLOCK and BMAL1 leads to hypoinsulinaemia and diabetes. Nature466: 627–631. doi: 10.1038/nature0925320562852
10. Turek FW, Joshu C, Kohsaka A, Lin E, Ivanova G, McDearmon E, et al. (2005) Obesity and metabolic syndrome in circadian Clock mutant mice. Science308: 1043–1045. 15845877
11. Davey Smith G, Hemani G, (2014) Mendelian randomization: genetic anchors for causal inference in epidemiological studies. Hum Mol Genet23: R89–98. doi: 10.1093/hmg/ddu32825064373
12. Allebrandt KV, Amin N, Muller-Myhsok B, Esko T, Teder-Laving M, Azevedo RV, et al. (2013) A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila. Mol Psychiatry18: 122–132. doi: 10.1038/mp.2011.14222105623
13. Gottlieb DJ, Hek K, Chen TH, Watson NF, Eiriksdottir G, Byrne EM, et al. (2014) Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study. Mol Psychiatry.
14. Hu Y, Shmygelska A, Tran D, Eriksson N, Tung JY, Hinds DA, (2016) GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person. Nat Commun7: 10448. doi: 10.1038/ncomms1044826835600
15. Yang J, Weedon MN, Purcell S, Lettre G, Estrada K, Willer CJ, et al. (2011) Genomic inflation factors under polygenic inheritance. European Journal of Human Genetics19: 807–812. doi: 10.1038/ejhg.2011.3921407268
16. Doi M, Ishida A, Miyake A, Sato M, Komatsu R, Yamazaki F, et al. (2011) Circadian regulation of intracellular G-protein signalling mediates intercellular synchrony and rhythmicity in the suprachiasmatic nucleus. Nat Commun2: 327. doi: 10.1038/ncomms131621610730
17. van der Horst GT, Muijtjens M, Kobayashi K, Takano R, Kanno S, Takao M, et al. (1999) Mammalian Cry1 and Cry2 are essential for maintenance of circadian rhythms. Nature398: 627–630. 10217146
18. Zheng B, Larkin DW, Albrecht U, Sun ZS, Sage M, Eichele G, et al. (1999) The mPer2 gene encodes a functional component of the mammalian circadian clock. Nature400: 169–173. 10408444
19. Bunger MK, Wilsbacher LD, Moran SM, Clendenin C, Radcliffe LA, Hogenesch JB, et al. (2000) Mop3 is an essential component of the master circadian pacemaker in mammals. Cell103: 1009–1017. 11163178
20. Shearman LP, Jin X, Lee C, Reppert SM, Weaver DR, (2000) Targeted disruption of the mPer3 gene: subtle effects on circadian clock function. Mol Cell Biol20: 6269–6275. 10938103
21. Zheng B, Albrecht U, Kaasik K, Sage M, Lu W, Vaishnav S, et al. (2001) Nonredundant roles of the mPer1 and mPer2 genes in the mammalian circadian clock. Cell105: 683–694. 11389837
22. Preitner N, Damiola F, Lopez-Molina L, Zakany J, Duboule D, Albrecht U, et al. (2002) The orphan nuclear receptor REV-ERBalpha controls circadian transcription within the positive limb of the mammalian circadian oscillator. Cell110: 251–260. 12150932
23. Larsson M, Duffy David L, Zhu G, Liu Jimmy Z, Macgregor S, McRae Allan F, et al. (2011) GWAS Findings for Human Iris Patterns: Associations with Variants in Genes that Influence Normal Neuronal Pattern Development. The American Journal of Human Genetics89: 334–343. doi: 10.1016/j.ajhg.2011.07.01121835309
24. Allebrandt KV, Teder-Laving M, Kantermann T, Peters A, Campbell H, Rudan I, et al. (2014) Chronotype and sleep duration: the influence of season of assessment. Chronobiol Int31: 731–740. doi: 10.3109/07420528.2014.90134724679223
25. Segre AV, Consortium D, investigators M, Groop L, Mootha VK, Daly MJ, et al. (2010) Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits. PLoS Genet6.
26. Locke AE, Kahali B, Berndt SI, Justice AE, Pers TH, Day FR, et al. (2015) Genetic studies of body mass index yield new insights for obesity biology. Nature518: 197–206. doi: 10.1038/nature1417725673413
27. Morris AP, Voight BF, Teslovich TM, Ferreira T, Segre AV, Steinthorsdottir V, et al. (2012) Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet44: 981–990. doi: 10.1038/ng.238322885922
28. Schizophrenia Working Group of the Psychiatric Genomics C (2014) Biological insights from 108 schizophrenia-associated genetic loci. Nature511: 421–427. doi: 10.1038/nature1359525056061
29. International League Against Epilepsy Consortium on Complex Epilepsies. Electronic address e-auea (2014) Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. Lancet Neurol13: 893–903. doi: 10.1016/S1474-4422(14)70171-125087078
30. Mazzotta G, Rossi A, Leonardi E, Mason M, Bertolucci C, Caccin L, et al. (2013) Fly cryptochrome and the visual system. Proc Natl Acad Sci U S A110: 6163–6168. doi: 10.1073/pnas.121231711023536301
31. Loh PR, Tucker G, Bulik-Sullivan BK, Vilhjalmsson BJ, Finucane HK, Salem RM, et al. (2015) Efficient Bayesian mixed-model analysis increases association power in large cohorts. Nat Genet47: 284–290. doi: 10.1038/ng.319025642633
32. Willer CJ, Li Y, Abecasis GR, (2010) METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics26: 2190–2191. doi: 10.1093/bioinformatics/btq34020616382
33. Magi R, Morris AP, (2010) GWAMA: software for genome-wide association meta-analysis. BMC Bioinformatics11: 288. doi: 10.1186/1471-2105-11-28820509871
34. Subramanian A, Tamayo P, Mootha VK, Mukherjee S, Ebert BL, Gillette MA, et al. (2005) Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci U S A102: 15545–15550. 16199517
35. Mootha VK, Lindgren CM, Eriksson KF, Subramanian A, Sihag S, Lehar J, et al. (2003) PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet34: 267–273. 12808457
36. Ward LD, Kellis M, (2012) HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Res40: D930–934. doi: 10.1093/nar/gkr91722064851
37. Pruim RJ, Welch RP, Sanna S, Teslovich TM, Chines PS, Gliedt TP, et al. (2010) LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics26: 2336–2337. doi: 10.1093/bioinformatics/btq41920634204
38. Bulik-Sullivan B, Finucane HK, Anttila V, Gusev A, Day FR, Loh P-R, et al. (2015) An atlas of genetic correlations across human diseases and traits. Nat Genet47: 1236–1241. doi: 10.1038/ng.340626414676
39. Bulik-Sullivan BK, Loh P-R, Finucane HK, Ripke S, Yang J, Schizophrenia Working Group of the Psychiatric Genomics Cet al. (2015) LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Nat Genet47: 291–295. doi: 10.1038/ng.321125642630
40. Christopher FB, Mark ES, Steven S, (2002) IVREG2: Stata module for extended instrumental variables/2SLS and GMM estimation. S425401 ed: Boston College Department of Economics.
41. Bowden J, Davey Smith G, Burgess S, (2015) Mendelian randomization with invalid instruments: effect estimation and bias detection through Egger regression. International Journal of Epidemiology44: 512–525. doi: 10.1093/ije/dyv08026050253