vavilovВавиловский журнал генетики и селекцииVavilov Journal of Genetics and Breeding2500-3259Institute of Cytology and Genetics of Siberian Branch of the RAS10.18699/vjgb-24-71vavilov-4293Research ArticleГЕНЕТИКА ЧЕЛОВЕКАHUMAN GENETICSПоиск сигналов положительного отбора генов циркадных ритмов PER1, PER2, PER3 в различных популяциях людейSearch for signals of positive selection of circadian rhythm genes PER1, PER2, PER3 in different human populationshttps://orcid.org/0000-0003-1134-9366МишинаА. И.MishinaA. I.

Москва

Moscow

arinamishina32@yandex.ruhttps://orcid.org/0000-0002-0324-3580БакоевС. Ю.BakoevS. Y.

Москва

Moscow

ОоржакА. Ю.OorzhakA. Y.

Москва

Moscow

https://orcid.org/0000-0001-7378-983XКескиновА. А.KeskinovA. A.

Москва

Moscow

https://orcid.org/0009-0004-9610-0889КабиеваШ. Ш.KabievaSh. Sh.

Москва

Moscow

https://orcid.org/0009-0003-0556-9343КоробейниковаА. В.KorobeinikovaA. V.

Москва

Moscow

https://orcid.org/0000-0002-9199-6258ЮдинВ. С.YudinV. S.

Москва

Moscow

https://orcid.org/0000-0002-8923-9805БоброваМ. М.BobrovaM. M.

Москва

Moscow

ШестаковД. А.ShestakovD. A.

Москва

Moscow

https://orcid.org/0000-0002-1907-0098МакаровВ. В.MakarovV. V.

Москва

Moscow

https://orcid.org/0000-0003-1868-3148ГетманцеваЛ. В.GetmantsevaL. V.

Москва

Moscow

Центр стратегического планирования и управления медико-биологическими рисками здоровью Федерального медико-биологического агентстваРоссияCentre for Strategic Planning and Management of Biomedical Health Risks of the Federal Medical Biological AgencyRussian Federation202409102024286640649Copyright © Мишина А.И., Бакоев С.Ю., Ооржак А.Ю., Кескинов А.А., Кабиева Ш.Ш., Коробейникова А.В., Юдин В.С., Боброва М.М., Шестаков Д.А., Макаров В.В., Гетманцева Л.В., 20242024Мишина А.И., Бакоев С.Ю., Ооржак А.Ю., Кескинов А.А., Кабиева Ш.Ш., Коробейникова А.В., Юдин В.С., Боброва М.М., Шестаков Д.А., Макаров В.В., Гетманцева Л.В.Mishina A.I., Bakoev S.Y., Oorzhak A.Y., Keskinov A.A., Kabieva S.S., Korobeinikova A.V., Yudin V.S., Bobrova M.M., Shestakov D.A., Makarov V.V., Getmantseva L.V.This work is licensed under a Creative Commons Attribution 4.0 License.https://vavilov.elpub.ru/jour/article/view/4293

Разнообразие географически распределенных человеческих популяций демонстрирует большую вариацию внешних и внутренних признаков индивидов. Такие различия в значительной степени объясняются генетической адаптацией к различным воздействиям окружающей среды, к которым относят изменения климатических условий, колебания условий сна и бодрствования, вариации рациона и другие. Полногеномные данные, полученные от людей различных популяций, дают возможность идентифицировать конкретные генетические участки, ответственные за эти адаптации, и глубже понимать генетическую структуру, лежащую в основе адаптивных характеристик человека. В данной работе проведен поиск сигналов однонуклеотидных полиморфизмов (SNP), находящихся под давлением отбора у людей различных популяций. Для выявления сигналов отбора в различных популяционных группах были исследованы гены PER1, PER2 и PER3, играющие важнейшую роль в координации термогенных функций и регуляции циркадных ритмов, что напрямую отражается на адаптационных способностях организма. Анализ данных осуществляли на основе общедоступных данных из проекта «1000 геномов» (1000 Genomes Project) по 23 популяциям. Для поиска следов отбора был выбран статистический метод XP-EHH (expanded haplotype homozygosity score). Проведенный сравнительный анализ позволил идентифицировать точки, подверженные давлению отбора. Найденные SNP были аннотированы через каталог GWAS, а также вручную, путем анализа интернет-ресурсов и публикаций. Исследование позволяет сделать вывод о том, что условия проживания, климат и другие внешние факторы напрямую влияют на генетическую структуру популяций и варьируют в зависимости от расы и географического местоположения. Кроме того, многие из вариантов отбора в генах PER1, PER2, PER3, по-видимому, регулируют биологические процессы, связанные с основными современными заболеваниями, включая ожирение, онкологию, метаболический синдром, биполярное расстройство личности, депрессию, ревматоидный артрит, сахарный диабет, красную волчанку, инсульт и болезнь Альцгеймера, что делает их крайне интересными объектами для дальнейших исследований, направленных на идентификацию генетически обусловленных причин заболеваний человека. 

The diversity of geographically distributed human populations shows considerable variation in external and internal traits of individuals. Such differences are largely attributed to genetic adaptation to various environmental influences, which include changes in climatic conditions, variations in sleep and wakefulness, dietary variations, and others. Whole-genome data from individuals of different populations make it possible to determine the specific genetic sites responsible for adaptations and to further understand the genetic structure underlying human adaptive characteristics. In this article, we searched for signals of single nucleotide polymorphisms (SNPs) under selection pressure in people of different populations. To identify selection signals in different population groups, the PER1, PER2 and PER3 genes that are involved in the coordination of thermogenic functions and regulation of circadian rhythms, which is directly reflected in the adaptive abilities of the organism, were investigated. Data were analyzed using publicly available data from the 1000 Genomes Project for 23 populations. The Extended Haplotype Homozygosity Score statistical method was chosen to search for traces of selection. The comparative analysis performed identified points subject to selection pressure. The SNPs were annotated through the GWAS catalog and manually by analyzing Internet resources. This study suggests that living conditions, climate, and other external factors directly influence the genetic structure of populations and vary across races and geographic locations. In addition, many of the selection variants in the PER1, PER2, PER3 genes appear to regulate biological processes that are associated with major modern diseases, including obesity, cancer, metabolic syndrome, bipolar personality disorder, depression, rheumatoid arthritis, diabetes mellitus, lupus erythematosus, stroke and Alzheimer’s disease, making them extremely interesting targets for further research aimed at identifying the genetic causes of human disease. 

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The authors declare that there are no conflicts of interest present.