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Updated: Jul 25, 2025

Human Circadian Phenotyping and Diurnal Performance Testing in the Real World
Published on: April 7, 2020
[Genes of the circadian rhythm and sleep disorders in an open population of men aged 25-64 years (an epidemiological
V V Gafarov1,2, E A Gromova1,2, A N Tripelgorn1
1Research Institute of Therapy and Preventive Medicine - branch of the Institute of Cytology and Genetics Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.
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.
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