Search for signals of positive selection of circadian rhythm genes PER1, PER2, PER3 in different human populations

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 sl...

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Published in:	Vavilovskiĭ zhurnal genetiki i selekt͡s︡ii Vol. 28; no. 6; pp. 640 - 649
Main Authors:	Mishina, A I, Bakoev, S Y, Oorzhak, A Y, Keskinov, A A, Kabieva, Sh Sh, Korobeinikova, A V, Yudin, V S, Bobrova, M M, Shestakov, D A, Makarov, V V, Getmantseva, L V
Format:	Journal Article
Language:	English
Published:	Russia (Federation) The Federal Research Center Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences 01-10-2024 Siberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and Breeders
Subjects:	adaptation Original per1 per2 per3 populations snp PER2 PER1 adaptation PER3 SNP populations
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Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Correspondence to: A.I. Mishina arinamishina32@yandex.ru
ISSN:	2500-0462 2500-3259 2500-3259
DOI:	10.18699/vjgb-24-71