A novel association of two non-synonymous polymorphisms in PER2 and PER3 genes with specific diurnal preference subscales

Neuroscience Letters

Volumn 553, Issue , 2013, Pages 52-56

  Ojeda, Diego A ^a   Perea, Claudia S ^a   Niño, Carmen L ^b   Gutiérrez, Rafael M ^a   López León, Sandra ^c   Arboleda, Humberto ^d   Camargo, Andrés ^b   Adan, Ana ^e   Forero, Diego A ^a  

^a CENTRO DE INVESTIGACIONES   (Colombia)

^b UNIVERSIDAD DE CIENCIAS APLICADAS Y AMBIENTALES   (Colombia)

^c NOVARTIS PHARMA AG   (Switzerland)

^d UNIVERSIDAD NACIONAL DE COLOMBIA   (Colombia)

^e UNIVERSITY OF BARCELONA   (Spain)

Author keywords

Candidate genes; Endophenotypes; Molecular genetics; Neurogenetics; Sleep

Indexed keywords

PER2 PROTEIN; PER3 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CIRCADIAN RHYTHM; COMPOSITE SCALE OF MORNINGNESS; FEMALE; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NAMED INVENTORIES, QUESTIONNAIRES AND RATING SCALES; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; UNIVERSITY STUDENT; VARIABLE NUMBER OF TANDEM REPEAT;

CANDIDATE GENES; ENDOPHENOTYPES; MOLECULAR GENETICS; NEUROGENETICS; SLEEP;

ADOLESCENT; ADULT; CIRCADIAN RHYTHM; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; PERIOD CIRCADIAN PROTEINS; POLYMORPHISM, GENETIC; YOUNG ADULT;

EID: 84884394366     PISSN: 03043940     EISSN: 18727972     Source Type: Journal    
DOI: 10.1016/j.neulet.2013.08.016     Document Type: Article

References (43)

1. Adan A., Archer S.N., Hidalgo M.P., Di Milia L., Natale V., Randler C. Circadian typology: a comprehensive review. Chronobiol Int. 2012, 29:1153-1175.
2. Adan A., Caci H., Prat G. Reliability of the Spanish version of the composite scale of morningness. Eur. Psychiatry. 2005, 20:503-509.
3. Adzhubei I.A., Schmidt S., Peshkin L., Ramensky V.E., Gerasimova A., Bork P., Kondrashov A.S., Sunyaev S.R. A method and server for predicting damaging missense mutations. Nat. Methods 2010, 7:248-249.
4. Archer S.N., Robilliard D.L., Skene D.J., Smits M., Williams A., Arendt J., von Schantz M. A length polymorphism in the circadian clock gene PER3 is linked to delayed sleep phase syndrome and extreme diurnal preference. Sleep 2003, 26:413-415.
5. Barclay N.L., Eley T.C., Mill J., Wong C.C., Zavos H.M., Archer S.N., Gregory A.M. Sleep quality and diurnal preference in a sample of young adults: associations with 5HTTLPR, PER3, and CLOCK 3111. Am. J. Med. Genet. B: Neuropsychiatr. Genet. 2011, 156B:681-690.
6. Benitez B.A., Forero D.A., Arboleda G.H., Granados L.A., Yunis J.J., Fernandez W., Arboleda H. Exploration of genetic susceptibility factors for Parkinson's disease in a South American sample. J. Genet. 2010, 89:229-232.
7. Beskow L.M., Burke W., Merz J.F., Barr P.A., Terry S., Penchaszadeh V.B., Gostin L.O., Gwinn M., Khoury M.J. Informed consent for population-based research involving genetics. JAMA 2001, 286:2315-2321.
8. Buhr E.D., Takahashi J.S. Molecular components of the mammalian circadian clock. Handb. Exp. Pharmacol. 2013, 217:3-27.
9. Caci H., Adan A., Bohle P., Natale V., Pornpitakpan C., Tilley A. Transcultural properties of the composite scale of morningness: the relevance of the morning affect factor. Chronobiol. Int. 2005, 22:523-540.
10. Chang A.M., Buch A.M., Bradstreet D.S., Klements D.J., Duffy J.F. Human diurnal preference and circadian rhythmicity are not associated with the CLOCK 3111C/T gene polymorphism. J. Biol. Rhythms 2011, 26:276-279.
11. Ciarleglio C.M., Ryckman K.K., Servick S.V., Hida A., Robbins S., Wells N., Hicks J., Larson S.A., Wiedermann J.P., Carver K., Hamilton N., Kidd K.K., Kidd J.R., Smith J.R., Friedlaender J., McMahon D.G., Williams S.M., Summar M.L., Johnson C.H. Genetic differences in human circadian clock genes among worldwide populations. J. Biol. Rhythms 2008, 23:330-340.
12. Danilenko K.V., Cajochen C., Wirz-Justice A. Is sleep per se a zeitgeber in humans?. J. Biol. Rhythms 2003, 18:170-178.
13. Dardente H., Cermakian N. Molecular circadian rhythms in central and peripheral clocks in mammals. Chronobiol. Int. 2007, 24:195-213.
14. Dijk D.J., Archer S.N. PERIOD3, circadian phenotypes, and sleep homeostasis. Sleep Med. Rev. 2010, 14:151-160.
15. Ebisawa T., Uchiyama M., Kajimura N., Mishima K., Kamei Y., Katoh M., Watanabe T., Sekimoto M., Shibui K., Kim K., Kudo Y., Ozeki Y., Sugishita M., Toyoshima R., Inoue Y., Yamada N., Nagase T., Ozaki N., Ohara O., Ishida N., Okawa M., Takahashi K., Yamauchi T. Association of structural polymorphisms in the human period3 gene with delayed sleep phase syndrome. EMBO Rep. 2001, 2:342-346.
16. Ellis J., von Schantz M., Jones K.H., Archer S.N. Association between specific diurnal preference questionnaire items and PER3 VNTR genotype. Chronobiol. Int. 2009, 26:464-473.
17. Forero D.A., Arboleda G., Yunis J.J., Pardo R., Arboleda H. Association study of polymorphisms in LRP1, tau and 5-HTT genes and Alzheimer's disease in a sample of Colombian patients. J. Neural. Transm. 2006, 113:1253-1262.
18. Goel N., Banks S., Mignot E., Dinges D.F. PER3 polymorphism predicts cumulative sleep homeostatic but not neurobehavioral changes to chronic partial sleep deprivation. PLoS One 2009, 4:e5874.
19. Katzenberg D., Young T., Finn L., Lin L., King D.P., Takahashi J.S., Mignot E. A CLOCK polymorphism associated with human diurnal preference. Sleep 1998, 21:569-576.
20. Lahiri D.K., Nurnberger J.I. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res. 1991, 19:5444.
21. Lazar A.S., Slak A., Lo J.C., Santhi N., von Schantz M., Archer S.N., Groeger J.A., Dijk D.J. Sleep, diurnal preference, health, and psychological well-being: a prospective single-allelic-variation study. Chronobiol. Int. 2012, 29:131-146.
22. Lee C., Etchegaray J.P., Cagampang F.R., Loudon A.S., Reppert S.M. Posttranslational mechanisms regulate the mammalian circadian clock. Cell 2001, 107:855-867.
23. Lee H.J., Kim L., Kang S.G., Yoon H.K., Choi J.E., Park Y.M., Kim S.J., Kripke D.F. PER2 variation is associated with diurnal preference in a Korean young population. Behav. Genet. 2011, 41:273-277.
24. Noble W.S. How does multiple testing correction work?. Nat. Biotechnol. 2009, 27:1135-1137.
25. Ojeda D.A., Perea C.S., Suarez A., Nino C.L., Gutierrez R.M., Lopez-Leon S., Adan A., Arboleda H., Camargo A., Forero D.A. Common functional polymorphisms in SLC6A4 and COMT genes are associated with circadian phenotypes in a South American sample. Neurol. Sci. 2013.
26. Osland T.M., Bjorvatn B.R., Steen V.M., Pallesen S. Association study of a variable-number tandem repeat polymorphism in the clock gene PERIOD3 and chronotype in Norwegian university students. Chronobiol. Int. 2011, 28:764-770.
27. Pedrazzoli M., Louzada F.M., Pereira D.S., Benedito-Silva A.A., Lopez A.R., Martynhak B.J., Korczak A.L., Koike Bdel V., Barbosa A.A., D'Almeida V., Tufik S. Clock polymorphisms and circadian rhythms phenotypes in a sample of the Brazilian population. Chronobiol. Int. 2007, 24:1-8.
28. Pereira D.S., Tufik S., Louzada F.M., Benedito-Silva A.A., Lopez A.R., Lemos N.A., Korczak A.L., D'Almeida V., Pedrazzoli M. Association of the length polymorphism in the human PER3 gene with the delayed sleep-phase syndrome: does latitude have an influence upon it?. Sleep 2005, 28:29-32.
29. Portaluppi F., Smolensky M.H., Touitou Y. Ethics and methods for biological rhythm research on animals and human beings. Chronobiol. Int. 2010, 27:1911-1929.
30. Randler C., Díaz-Morales J.F. Morningness in German and Spanish students: a comparative study. Eur. J. Pers. 2007, 21:419-427.
31. Reppert S.M., Weaver D.R. Molecular analysis of mammalian circadian rhythms. Annu. Rev. Physiol. 2001, 63:647-676.
32. Robilliard D.L., Archer S.N., Arendt J., Lockley S.W., Hack L.M., English J., Leger D., Smits M.G., Williams A., Skene D.J., Von Schantz M. The 3111 Clock gene polymorphism is not associated with sleep and circadian rhythmicity in phenotypically characterized human subjects. J. Sleep Res. 2002, 11:305-312.
33. Rojas W., Parra M.V., Campo O., Caro M.A., Lopera J.G., Arias W., Duque C., Naranjo A., Garcia J., Vergara C., Lopera J., Hernandez E., Valencia A., Caicedo Y., Cuartas M., Gutierrez J., Lopez S., Ruiz-Linares A., Bedoya G. Genetic make up and structure of Colombian populations by means of uniparental and biparental DNA markers. Am. J. Phys. Anthropol. 2010, 143:13-20.
34. Rupp T.L., Wesensten N.J., Newman R., Balkin T.J. PER3 and ADORA2A polymorphisms impact neurobehavioral performance during sleep restriction. J. Sleep Res. 2013, 22:160-165.
35. Sato T.K., Yamada R.G., Ukai H., Baggs J.E., Miraglia L.J., Kobayashi T.J., Welsh D.K., Kay S.A., Ueda H.R., Hogenesch J.B. Feedback repression is required for mammalian circadian clock function. Nat. Genet. 2006, 38:312-319.
36. Shearman L.P., Sriram S., Weaver D.R., Maywood E.S., Chaves I., Zheng B., Kume K., Lee C.C., van der Horst G.T., Hastings M.H., Reppert S.M. Interacting molecular loops in the mammalian circadian clock. Science 2000, 288:1013-1019.
37. Smith C.S., Folkard S., Schmieder R.A., Parra L.F., Spelten E., Almiral H., Sen R.N., Sahu S., Perez L.M., Tisak J. Investigation of morning-evening orientation in six countries using the preferences scale. Pers. Indl. Differ. 2002, 32:949-968.
38. Smith C.S., Reilly C., Midkiff K. Evaluation of three circadian rhythm questionnaires with suggestions for an improved measure of morningness. J. Appl. Psychol. 1989, 74:728-738.
39. Sole X., Guino E., Valls J., Iniesta R., Moreno V. SNPStats: a web tool for the analysis of association studies. Bioinformatics 2006, 22:1928-1929.
40. Storey J.D., Tibshirani R. Statistical significance for genomewide studies. Proc. Natl. Acad. Sci. U.S.A. 2003, 100:9440-9445.
41. von Schantz M. Phenotypic effects of genetic variability in human clock genes on circadian and sleep parameters. J. Genet. 2008, 87:513-519.
42. Wangkumhang P., Chaichoompu K., Ngamphiw C., Ruangrit U., Chanprasert J., Assawamakin A., Tongsima S. WASP: a web-based allele-specific PCR assay designing tool for detecting SNPs and mutations. BMC Genomics 2007, 8:275.
43. Yu E.A., Weaver D.R. Disrupting the circadian clock: gene-specific effects on aging, cancer, and other phenotypes. Aging (Albany NY) 2011, 3:479-493.