Genes of the circadian rhythm and sleep disorders in an open population of men aged 25—64 years (an epidemiological study under the WHO MONICA-PSYCHOSOCIAL program)

V.V. Gafarov

Research Institute of Therapy and Preventive Medicine — branch of the Institute of Cytology and Genetics Siberian Branch of the Russian Academy of Sciences;
Collaborative Laboratory of Epidemiology of Cardiovascular Diseases

ORCID: 0000-0001-5701-7856

E.A. Gromova

ORCID: 0000-0001-8313-3893

A.N. Tripelgorn

Research Institute of Therapy and Preventive Medicine — branch of the Institute of Cytology and Genetics Siberian Branch of the Russian Academy of Sciences

ORCID: 0000-0002-3898-3247

I.V. Gagulin

ORCID: 0000-0001-5255-5647

V.N. Maksimov

Research Institute of Therapy and Preventive Medicine — branch of the Institute of Cytology and Genetics Siberian Branch of the Russian Academy of Sciences

ORCID: 0000-0002-7165-4496

A.V. Gafarova

ORCID: 0000-0001-5380-9434

Genes of the circadian rhythm and sleep disorders in an open population of men aged 25—64 years (an epidemiological study under the WHO MONICA-PSYCHOSOCIAL program)

Authors:

V.V. Gafarov, E.A. Gromova, A.N. Tripelgorn, I.V. Gagulin, V.N. Maksimov, A.V. Gafarova

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2023;123(6): 88‑93

DOI: 10.17116/jnevro202312306188

Downloaded: 1

Contact the author

Table of contents

To cite this article:

Gafarov VV, Gromova EA, Tripelgorn AN, Gagulin IV, Maksimov VN, Gafarova AV. Genes of the circadian rhythm and sleep disorders in an open population of men aged 25—64 years (an epidemiological study under the WHO MONICA-PSYCHOSOCIAL program). S.S. Korsakov Journal of Neurology and Psychiatry. 2023;123(6):88‑93. (In Russ.)
https://doi.org/10.17116/jnevro202312306188

Доказательная гастроэнтерология: pro et contra

Актуальные вопросы педиатрической практики

Использование инфографики авторами научных работ

Close metadata

OBJECTIVE

To study an effect of polymorphisms of genes encoding circadian rhythm proteins (CLOCK, BMAL1, PER2, NPAS2) on sleep disorders in men aged 25-64 years.

MATERIAL AND METHODS

The general examination was carried out according to standard methods included in the WHO MONICA-psychosocial (MOPSY) program. The standard Jenkins questionnaire was used to study sleep disorders. Genotyping of the polymorphisms of CLOCK, BMAL1, PER2, NPAS2 was carried out.

RESULTS

Carriers of the C/T genotype of CLOCK rs2412646 were more likely to think that their sleep was «satisfactory» or «bad». Carriers of the C/T genotype of BMAL1 rs2278749 were more likely to experience disturbing dreams, they woke up tired and exhausted. Carriers of the A/A genotype of PER2 rs934945 were more likely (25%) to wake up two or more times a night, in general, from 4 to 7 times a week. In the population, the C/T and T/T genotypes of NPAS2 rs4851377 were significantly more common in individuals with 7-hour sleep (50% and 53.3%, respectively).

CONCLUSION

An association of certain polymorphisms of tCLOCK, BMAL1, PER2, NPAS2 with sleep disorders was found.

Keywords:

population

men

sleep disorders

CLOCK gene

BMAL1 gene

PER2 gene

NPAS2 gene

Authors:

V.V. Gafarov

ORCID: 0000-0001-5701-7856

E.A. Gromova

ORCID: 0000-0001-8313-3893

A.N. Tripelgorn

Research Institute of Therapy and Preventive Medicine — branch of the Institute of Cytology and Genetics Siberian Branch of the Russian Academy of Sciences

ORCID: 0000-0002-3898-3247

I.V. Gagulin

ORCID: 0000-0001-5255-5647

V.N. Maksimov

Research Institute of Therapy and Preventive Medicine — branch of the Institute of Cytology and Genetics Siberian Branch of the Russian Academy of Sciences

ORCID: 0000-0002-7165-4496

A.V. Gafarova

ORCID: 0000-0001-5380-9434

Received:

10.02.2023

Accepted:

06.03.2023

List of references:

Rijo-Ferreira F, Takahashi JS. Genomics of circadian rhythms in health and disease. Genome Med. 2019;11(1):82. https://doi.org/10.1186/s13073-019-0704-0
Konopka RJ, Benzer S. Clock mutants of Drosophila melanogaster. Proc Natl Acad Sci USA. 1971;68:2112-2116. https://doi.org/10.1073/pnas.68.9.2112
Vitaterna MH, King DP, Chang AM, et al. Mutagenesis and mapping of a mouse gene, Clock, essential for circadian behavior. Science. 1994;264(5159):719-725. https://doi.org/10.1126/science.8171325.
King DP, Zhao Y, Sangoram AM, et al. Positional cloning of the mouse circadian clock gene. Cell. 1997;89(4):641-653. https://doi.org/10.1016/s0092-8674(00)80245-7.
Panchenko AV, Gubareva EA, Anisimov VN. Role of circadian rhytms and cellular clock in aging cancer development. Uspekhi Gerontologii. 2016;29(1):29-37. (In Russ.).
Romanchuk NP, Pyatin VF. Melatonin: neurophysiological and neuroendocrine aspects. Byulleten’ Nauki i Praktiki. 2019:5(7):71-85. (In Russ.). https://doi.org/10.33619/2414-2948/44/08
Pyatin VF, Romanchuk NP, Bulgakova SV, et al. Circadian stress in homo sapiens: new neurophysiological, neuroendocrine and psychoneuroimmune mechanisms. Byulleten’ nauki i praktiki. 2020;6(6):115-135. (In Russ.).
Volobuev AN, Romanchuk PI. Genetics and epigenetics of sleep and dreams. Byulleten’ nauki i praktiki. 2020;6(7):176-217. (In Russ.).
Dorokhov VB, Puchkova AN, Taranov AO, et al. An hour in the morning is worth two in the evening: association of morning component of morningness-eveningness with single nucleotide polymorphisms in circadian clock genes. Biological Rhythm Research. 2018;49(4):622-642. https://doi.org/10.1080/09291016.2017.1390823
Dorokhov VB, Puchkova AN, Arsen’ev GN, et al. Association of obesity in shift workers with the minor allele of a single-nucleotide polymorphism (rs4851377) in the largest circadian clock gene (NPAS2). Biological Rhythm Research. 2020;51(4):522-534. https://doi.org/10.1080/09291016.2018.1537558
Gubin DG, Kolomejchuk SN. Biological clock accuracy, chronotype, health and longevity. Hronomedicinskij Zhurnal. 2019;21(2):14-27. (In Russ.). https://doi.org/10.36361/2307-4698-2019-21-2-14-27
Semenova NV, Madaeva IM, Kolesnikova LI. The Clock Gene, Melatonin, and the Sleep-Wake Cycle. Genetika. 2021;57(3):247-254. (In Russ.). https://doi.org/10.31857/S0016675821030127
Ruben MD, Wu G, Smith DF, et al. A database of tissue-specific rhythmically expressed human genes has potential applications in circadian medicine. Sci Transl Med. 2018;10(458):eaat8806. https://doi.org/10.1126/scitranslmed.aat8806
Patke A, Murphy PJ, Onat OE, et al. Mutation of the Human Circadian Clock Gene CRY1 in Familial Delayed Sleep Phase Disorder. Cell. 2017;169(2):203-215.e13. https://doi.org/10.1016/j.cell.2017.03.027
Hirano A, Shi G, Jones CR, et al. A Cryptochrome 2 mutation yields advanced sleep phase in humans. Elife. 2016;5:e16695. https://doi.org/10.7554/eLife.16695
Takahashi JS. Transcriptional architecture of the mammalian circadian clock. Nat Rev Genet. 2017;18(3):164-179. https://doi.org/10.1038/nrg.2016.150
Podkolodnaya OA, Podkolodnaya NN, Podkolodnyj NL. Mammalian circadian clock: gene network and computer analysis. Vavilovskij zhurnal genetiki i selekcii. 2014;18(4-2):928-938. (In Russ.).
Gekakis N, Staknis D, Nguyen HB, et al. Role of the CLOCK protein in the mammalian circadian mechanism. Science. 1998;280(5369):1564-1569. https://doi.org/10.1126/science.280.5369.1564
Kume K, Zylka MJ, Sriram S, et al. mCRY1 and mCRY2 are essential components of the negative limb of the circadian clock feedback loop. Cell. 1999;98(2):193-205. https://doi.org/10.1016/s0092-8674(00)81014-4
Shearman LP, Sriram S, Weaver DR, et al. Interacting molecular loops in the mammalian circadian clock. Science. 2000;288(5468):1013-1019. https://doi.org/10.1126/science.288.5468.1013
Lee C, Etchegaray JP, Cagampang FR, et al. Posttranslational mechanisms regulate the mammalian circadian clock. Cell. 2001;107(7):855-867. https://doi.org/10.1016/s0092-8674(01)00610-9
Gallego M, Virshup DM. Post-translational modifications regulate the ticking of the circadian clock. Nat Rev Mol Cell Biol. 2007;8(2):139-148. https://doi.org/10.1038/nrm2106
Lowrey PL, Takahashi JS. Genetics of circadian rhythms in Mammalian model organisms. Adv Genet. 2011;74:175-230. https://doi.org/10.1016/B978-0-12-387690-4.00006-4
Preußner M, Heyd F. Post-transcriptional control of the mammalian circadian clock: implications for health and disease. Pflugers Arch. 2016;468(6):983-991. https://doi.org/10.1007/s00424-016-1820-y
Xu Y, Padiath QS, Shapiro RE, et al. Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome. Nature. 2005;434(7033):640-644. https://doi.org/10.1038/nature03453
World Health Organization. MONICA Psychosocial Optional Study. Suggested Measurement Instruments. Copenhagen: WHO Regional Office for Europe; 1988.
MONICA Monograph and Multimedia Sourcebook. Helsinki. 2003;237.
Byul A, Tzofel P. SPSS: the art of information processing. Analysis of statistical data and restoration of hidden patterns. SPb.: OOO DiaSoftUP; 2015;608.
Pandis N. The chi-square test. Am J Orthod Dentofacial Orthop. 2016;150(5):898-899. https://doi.org/10.1016/j.ajodo.2016.08.009
Hu Y, Shmygelska A, Tran D, et al. GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person. Nat Commun. 2016;7:10448. https://doi.org/10.1038/ncomms10448
Jones SE, Tyrrell J, Wood AR, et al. Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci. PLoS Genet. 2016;12(8):e1006125. https://doi.org/10.1371/journal.pgen.1006125
Ojeda DA, Perea CS, Niño CL, et al. A novel association of two non-synonymous polymorphisms in PER2 and PER3 genes with specific diurnal preference subscales. Neurosci Lett. 2013;553:52-56. https://doi.org/10.1016/j.neulet.2013.08.016
Serretti A, Benedetti F, Mandelli L, et al. Genetic dissection of psychopathological symptoms: insomnia in mood disorders and CLOCK gene polymorphism. Am J Med Genet B Neuropsychiatr Genet. 2003;121B(1):35-38. https://doi.org/10.1002/ajmg.b.20053
Mishima K, Tozawa T, Satoh K, et al. The 3111T/C polymorphism of hClock is associated with evening preference and delayed sleep timing in a Japanese population sample. Am J Med Genet B Neuropsychiatr Genet. 2005;133B(1):101-104. https://doi.org/10.1002/ajmg.b.30110
Li JZ, Bunney BG, Meng F, et al. Circadian patterns of gene expression in the human brain and disruption in major depressive disorder. Proc Natl Acad Sci USA. 2013;110(24):9950-9955. https://doi.org/10.1073/pnas.1305814110
Dudley CA, Erbel-Sieler C, Estill SJ, et al. Altered patterns of sleep and behavioral adaptability in NPAS2-deficient mice. Science. 2003;301(5631):379-383. https://doi.org/10.1126/science.1082795
von Gall C. The Effects of Light and the Circadian System on Rhythmic Brain Function. Int J Mol Sci. 2022;23(5):2778. https://doi.org/10.3390/ijms23052778

Close metadata