Common functional polymorphisms in SLC6A4 and COMT genes are associated with circadian phenotypes in a South American sample

Neurological Sciences

Volumn 35, Issue 1, 2014, Pages 41-47

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

^a CENTRO DE INVESTIGACIONES   (Colombia)

^b UNIVERSIDAD DE CIENCIAS APLICADAS Y AMBIENTALES   (Colombia)

^c Health Outcomes Research   (Spain)

^d UNIVERSITY OF BARCELONA   (Spain)

^e UNIVERSIDAD NACIONAL DE COLOMBIA   (Colombia)

Author keywords

Endophenotypes; Molecular genetics; Morningness eveningness; Neurogenetics; Neuropsychiatric genetics; Synaptic genes

Indexed keywords

CATECHOL METHYLTRANSFERASE; SEROTONIN TRANSPORTER;

ADULT; ARTICLE; CIRCADIAN RHYTHM; COLOMBIA; COMPOSITE SCALE OF MORNINGNESS; DAYTIME SOMNOLENCE; DNA POLYMORPHISM; EPWORTH SLEEPINESS SCALE; FEMALE; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE; HUMAN; MALE; NORMAL HUMAN; PHENOTYPE; SOMNOLENCE; SOUTH AMERICA; YOUNG ADULT;

ADOLESCENT; ADULT; CATECHOL O-METHYLTRANSFERASE; CIRCADIAN RHYTHM; FEMALE; GENOTYPE; HUMANS; MALE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; QUESTIONNAIRES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEROTONIN PLASMA MEMBRANE TRANSPORT PROTEINS; SOUTH AMERICA; YOUNG ADULT;

EID: 84892678206     PISSN: 15901874     EISSN: 15903478     Source Type: Journal    
DOI: 10.1007/s10072-013-1466-x     Document Type: Article

References (40)

1. Danilenko KV, Cajochen C, Wirz-Justice A (2003) Is sleep per se a zeitgeber in humans? J Biol Rhythms 18:170-178 (Pubitemid 37203372)
2. Adan A, Archer SN, Hidalgo MP, Di Milia L, Natale V, Randler C (2012) Circadian typology: a comprehensive review. Chronobiol Int 29:1153-1175
3. von Schantz M (2008) Phenotypic effects of genetic variability in human clock genes on circadian and sleep parameters. J Genet 87:513-519
4. Forero DA, Benitez B, Arboleda G, Yunis JJ, Pardo R, Arboleda H (2006) Analysis of functional polymorphisms in three synaptic plasticity-related genes (BDNF, COMT AND UCHL1) in Alzheimer's disease in Colombia. Neurosci Res 55:334-341 (Pubitemid 43766406)
5. Ramamoorthy S, Bauman AL, Moore KR, Han H, Yang-Feng T, Chang AS, Ganapathy V, Blakely RD (1993) Antidepressant- and cocaine-sensitive human serotonin transporter: molecular cloning, expression, and chromosomal localization. Proc Natl Acad Sci USA 90:2542-2546 (Pubitemid 23078664)
6. Lesch KP, Balling U, Gross J, Strauss K, Wolozin BL, Murphy DL, Riederer P (1994) Organization of the human serotonin transporter gene. J Neural Transm Gen Sect 95:157-162
7. Heils A, Teufel A, Petri S, Stober G, Riederer P, Bengel D, Lesch KP (1996) Allelic variation of human serotonin transporter gene expression. J Neurochem 66:2621-2624 (Pubitemid 26159101)
8. Collier DA, Stober G, Li T, Heils A, Catalano M, Di Bella D, Arranz MJ, Murray RM, Vallada HP, Bengel D, Muller CR, Roberts GW, Smeraldi E, Kirov G, Sham P, Lesch KP (1996) A novel functional polymorphism within the promoter of the serotonin transporter gene: possible role in susceptibility to affective disorders. Mol Psychiatry 1:453-460 (Pubitemid 126439785)
9. Canli T, Lesch KP (2007) Long story short: the serotonin transporter in emotion regulation and social cognition. Nat Neurosci 10:1103-1109 (Pubitemid 47339957)
10. Caspi A, Sugden K, Moffitt TE, Taylor A, Craig IW, Harrington H, McClay J, Mill J, Martin J, Braithwaite A, Poulton R (2003) Influence of life stress on depression: moderation by a polymorphism in the 5-HTT gene. Science 301:386-389 (Pubitemid 36877077)
11. Shield AJ, Thomae BA, Eckloff BW, Wieben ED, Weinshilboum RM (2004) Human catechol O-methyltransferase genetic variation: gene resequencing and functional characterization of variant allozymes. Mol Psychiatry 9:151-160 (Pubitemid 38299528)
12. Egan MF, Goldberg TE, Kolachana BS, Callicott JH, Mazzanti CM, Straub RE, Goldman D, Weinberger DR (2001) Effect of COMT Val108/158 Met genotype on frontal lobe function and risk for schizophrenia. Proc Natl Acad Sci USA 98:6917-6922 (Pubitemid 32538317)
13. Lachman HM, Papolos DF, Saito T, Yu YM, Szumlanski CL, Weinshilboum RM (1996) Human catechol-O-methyltransferase pharmacogenetics: description of a functional polymorphism and its potential application to neuropsychiatric disorders. Pharmacogenetics 6:243-250 (Pubitemid 26226317)
14. Chen J, Lipska BK, Halim N, Ma QD, Matsumoto M, Melhem S, Kolachana BS, Hyde TM, Herman MM, Apud J, Egan MF, Kleinman JE, Weinberger DR (2004) Functional analysis of genetic variation in catechol-O-methyltransferase (COMT): effects on mRNA, protein, and enzyme activity in postmortem human brain. Am J Hum Genet 75:807-821 (Pubitemid 39390488)
15. Rojas W, Parra MV, Campo O, Caro MA, Lopera JG, 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 (2010) Genetic make up and structure of Colombian populations by means of uniparental and biparental DNA markers. Am J Phys Anthropol 143:13-20
16. Beskow LM, Burke W, Merz JF, Barr PA, Terry S, Penchaszadeh VB, Gostin LO, Gwinn M, Khoury MJ (2001) Informed consent for population-based research involving genetics. JAMA 286:2315-2321 (Pubitemid 33063154)
17. Portaluppi F, Smolensky MH, Touitou Y (2010) Ethics and methods for biological rhythm research on animals and human beings. Chronobiol Int 27:1911-1929
18. Smith CS, Reilly C, Midkiff K (1989) Evaluation of three circadian rhythm questionnaires with suggestions for an improved measure of morningness. J Appl Psychol 74:728-738
19. Adan A, Caci H, Prat G (2005) Reliability of the Spanish version of the composite scale of morningness. Eur Psychiatry 20:503-509 (Pubitemid 41681560)
20. Smith CS, Folkard S, Schmieder RA, Parra LF, Spelten E, Almiral H, Sen RN, Sahu S, Perez LM, Tisak J (2002) Investigation of morning-evening orientation in six countries using the preferences scale. Pers Indl Differ 32:949-968
21. Caci H, Adan A, Bohle P, Natale V, Pornpitakpan C, Tilley A (2005) Transcultural properties of the composite scale of morningness: the relevance of the "morning affect" factor. Chronobiol Int 22:523-540 (Pubitemid 41140875)
22. Johns MW (1991) A new method for measuring daytime sleepiness: the Epworth sleepiness scale. Sleep 14:540-545
23. Chica-Urzola HL, Escobar-Cordoba F, Eslava-Schmalbach J (2007) Validating the Epworth sleepiness scale. Rev Salud Publica (Bogota) 9:558-567
24. Lahiri DK, Nurnberger JI Jr (1991) A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 19:5444
25. Liu Q, Thorland EC, Heit JA, Sommer SS (1997) Overlapping PCR for bidirectional PCR amplification of specific alleles: a rapid one-tube method for simultaneously differentiating homozygotes and heterozygotes. Genome Res 7:389-398 (Pubitemid 27183007)
26. Sole X, Guino E, Valls J, Iniesta R, Moreno V (2006) SNPStats: a web tool for the analysis of association studies. Bioinformatics 22:1928-1929 (Pubitemid 44283043)
27. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81:559-575 (Pubitemid 47330214)
28. Ritchie MD, Hahn LW, Roodi N, Bailey LR, Dupont WD, Parl FF, Moore JH (2001) Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer. Am J Hum Genet 69:138-147 (Pubitemid 32614026)
29. Chang AM, Buch AM, Bradstreet DS, Klements DJ, Duffy JF (2011) Human diurnal preference and circadian rhythmicity are not associated with the CLOCK 3111C/T gene polymorphism. J Biol Rhythms 26:276-279
30. Osland TM, Bjorvatn BR, Steen VM, Pallesen S (2011) Association study of a variable-number tandem repeat polymorphism in the clock gene PERIOD3 and chronotype in Norwegian university students. Chronobiol Int 28:764-770
31. Pedrazzoli M, Louzada FM, Pereira DS, Benedito-Silva AA, Lopez AR, Martynhak BJ, Korczak AL, Koike Bdel V, Barbosa AA, D'Almeida V, Tufik S (2007) Clock polymorphisms and circadian rhythms phenotypes in a sample of the Brazilian population. Chronobiol Int 24:1-8 (Pubitemid 46279993)
32. Barclay NL, Eley TC, Mill J, Wong CC, Zavos HM, Archer SN, Gregory AM (2011) 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 156B:681-690
33. Deuschle M, Schredl M, Schilling C, Wust S, Frank J, Witt SH, Rietschel M, Buckert M, Meyer-Lindenberg A, Schulze TG (2010) Association between a serotonin transporter length polymorphism and primary insomnia. Sleep 33:343-347
34. Fiedorowicz JG, Moser DJ, Hynes SM, Beglinger LJ, Schultz SK, Ellingrod VL (2007) LA allelic heterozygosity of the 5HTTLPR polymorphism is associated with higher cognitive function and lower interpersonal sensitivity. Psychiatr Genet 17:3-4 (Pubitemid 44953336)
35. Sonuga-Barke EJ, Kumsta R, Schlotz W, Lasky-Su J, Marco R, Miranda A, Mulas F, Oades RD, Banaschewski T, Mueller U, Andreou P, Christiansen H, Gabriels I, Uebel H, Kuntsi J, Franke B, Buitelaar J, Ebstein R, Gill M, Anney R, Roeyers H, Rothenberger A, Sergeant J, Steinhausen HC, Asherson P, Faraone SV (2011) A functional variant of the serotonin transporter gene (SLC6A4) moderates impulsive choice in attention-deficit/hyperactivity disorder boys and siblings. Biol Psychiatry 70:230-236
36. Steffens DC, Taylor WD, McQuoid DR, Krishnan KR (2008) Short/long heterozygotes at 5HTTLPR and white matter lesions in geriatric depression. Int J Geriatr Psychiatry 23:244-248 (Pubitemid 351404017)
37. Dzirasa K, Ribeiro S, Costa R, Santos LM, Lin SC, Grosmark A, Sotnikova TD, Gainetdinov RR, Caron MG, Nicolelis MA (2006) Dopaminergic control of sleep-wake states. J Neurosci 26:10577-10589 (Pubitemid 44564610)
38. Dauvilliers Y, Neidhart E, Lecendreux M, Billiard M, Tafti M (2001) MAO-A and COMT polymorphisms and gene effects in narcolepsy. Mol Psychiatry 6:367-372 (Pubitemid 32566084)
39. Ciarleglio CM, Ryckman KK, Servick SV, Hida A, Robbins S, Wells N, Hicks J, Larson SA, Wiedermann JP, Carver K, Hamilton N, Kidd KK, Kidd JR, Smith JR, Friedlaender J, McMahon DG, Williams SM, Summar ML, Johnson CH (2008) Genetic differences in human circadian clock genes among worldwide populations. J Biol Rhythms 23:330-340 (Pubitemid 352010009)
40. Pereira DS, Tufik S, Louzada FM, Benedito-Silva AA, Lopez AR, Lemos NA, Korczak AL, D'Almeida V, Pedrazzoli M (2005) Association of the length polymorphism in the human Per3 gene with the delayed sleep-phase syndrome: does latitude have an influence upon it? Sleep 28:29-32 (Pubitemid 40543117)