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. 2023;123(6):88-93.
doi: 10.17116/jnevro202312306188.

[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)]

[Article in Russian]
V V Gafarov  1   2 , E A Gromova  1   2 , A N Tripelgorn  1 , I V Gagulin  1   2 , V N Maksimov  1 , A V Gafarova  1   2
Affiliations

[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)]

[Article in Russian]
V V Gafarov et al. Zh Nevrol Psikhiatr Im S S Korsakova. 2023.

Abstract
in English, Russian

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.

Цель исследования: Изучение влияния полиморфизма генов, кодирующих белки циркадного ритма (гены CLOCK, BMAL1, PER2, NPAS2), на нарушения сна в открытой популяции мужчин 25—64 лет.

Материал и методы: Общее обследование проводилось по стандартным методикам, включенным в программу Всемирной организации здравоохранения (ВОЗ) «MONICA-психосоциальная (MOPSY)». Для изучения нарушений сна использовали стандартный опросник Дженкинса. Проводилось генотипирование изучаемых полиморфизмов генов CLOCK, BMAL1, PER2, NPAS2.

Результаты: Носители генотипа С/Т гена CLOCK rs2412646 чаще других считали, что их сон «удовлетворительный» или «плохой». Носители генотипа C/T гена BMAL1 rs2278749 чаще испытывали тревожные сновидения, просыпались уставшими и изнуренными. Носители генотипа A/A гена PER2 rs934945 чаще (25%) просыпались 2 раза и больше за ночь, в целом от 4 до 7 раз в неделю. В популяции достоверно чаще генотипы C/T и T/T гена NPAS2 rs4851377 были у лиц с 7-часовым сном (50 и 53,3% соответственно).

Заключение: Найдена ассоциация определенных полиморфизмов генов CLOCK, BMAL1, PER2, NPAS2 с нарушениями сна.

Keywords: BMAL1 gene; CLOCK gene; NPAS2 gene; PER2 gene; men; population; sleep disorders.

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