Analysis of 13 TP53 and WRAP53 polymorphism frequencies in russian populations

About authors

1 Research Centre of Medical Genetics (RCMG), Moscow, Russia

2 Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia

Correspondence should be addressed: Marina V. Olkova
Gubkina 3, Moscow, 119991; ur.xobni@sciteneg

About paper

Funding: the study was carried out as part of the public contract between the Ministry of Science and Higher Education of the Russian Federation and the Research Centre of Medical Genetics (phenotyping of samples, database construction, data analysis).

Acknowledgement: we would like to express our appreciation to Oleg Balanovsky, head of the Genome Geography Laboratory of the Vavilov Institute of General Genetics for study management and manuscript editing, to all DNA donors and Biobank of North Eurasia for provided collection of samples, as well as to the Center for Precision Genome Editing and Genetic Technologies for Biomedicine of the Pirogov Russian National Research Medical University (Moscow, Russia) for the opportunity to use the molecular biology technologies.

Author contribution: Olkova MV — study design, statistical analysis, manuscript writing; Petrushenko VS — bioinformatics analysis, Ponomarev GYu — experiments.

Compliance with ethical standards: the study was carried out in accordance with the World Medical Association Declaration of Helsinki. All samples were obtained from Biobank of North Eurasia. The informed consent was obtained from all donors.

Received: 2020-11-26 Accepted: 2020-12-12 Published online: 2021-01-12

In the last decade the search for and annotation of human genome polymorphisms associated with phenotype have become particularly important concerning the opportunity of their use in medical and population genetics, pharmacogenomics and evolutionary biology. The study was aimed to calculate the frequencies and analyze the prevalence of 13 germline polymorphisms of two genes, ТР53 encoding the genome-keeper p53 protein and WRAP53 involved in regulation of p53 production, in 28 Russian populations. We obtained data on 9 exonic ТР53 variants (rs587781663, rs17882252, rs150293825, rs112431538, rs149633775, rs144340710, rs1042522, rs1800371, rs201753350), one intronic polymorphism (rs17881850), and three variants of WRAP53 (rs17880282, rs2287499, rs34067256). In the majority of populations the sample size was over 50 people (except five populations with 30–49 surveyed people). The alternative alleles’ population frequencies for studies genetic variants in most Russian populations were close to appropriate allele frequencies in European and Asian populations of similar origin taken from global databases. The exceptions were six populations ("Central Caucasus", "Dagestan", "northern Russians", "southeastern Russians", "Tatars" and "Transcaucasia") with increased alternative alleles’ population frequencies. All listed populations except the population of “southeastern Russians” are characterized by polymorphisms with high allele frequencies not satisfying the Hardy–Weinberg principle.

Keywords: polymorphism, р53, ТР53, WRAP53, tumor marker, population frequency, genetic epidemiology