Analysis of 13 TP53 and WRAP53 polymorphism frequencies in russian populations

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.

[1]  R. Scott,et al.  Prevalence of germline TP53 variants among early-onset breast cancer patients from Polish population , 2020, Breast Cancer.

[2]  Davoud Farajzadeh,et al.  Haplotype and linkage disequilibrium of TP53-WRAP53 locus in Iranian-Azeri women with breast cancer , 2019, PloS one.

[3]  Sofie Bergstrand,et al.  The Cajal Body Protein WRAP53β Prepares the Scene for Repair of DNA Double-Strand Breaks by Regulating Local Ubiquitination , 2019, Front. Mol. Biosci..

[4]  R. Catarino,et al.  TP53 Arg72Pro polymorphism is associated with increased overall survival but not response to therapy in Portuguese/Caucasian patients with advanced cervical cancer. , 2018, Oncology letters.

[5]  S. Bojesen,et al.  TP53 Arg72Pro, mortality after cancer, and all-cause mortality in 105,200 individuals , 2017, Scientific Reports.

[6]  S. Böhm,et al.  Phosphorylation of the Cajal body protein WRAP53β by ATM promotes its involvement in the DNA damage response , 2016, RNA biology.

[7]  S. Farber-Katz,et al.  Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes , 2016, International journal of breast cancer.

[8]  J. Bourdon,et al.  p53 Isoforms: Key Regulators of the Cell Fate Decision. , 2016, Cold Spring Harbor perspectives in medicine.

[9]  H. Rassoolzadeh Unwrapping the role of WRAP53β in DNA damage response , 2016 .

[10]  О. П. Балановский,et al.  Популяционные биобанки: принципы организации и перспективы применения в геногеографии и персонализированной медицине , 2016 .

[11]  C. Méndez-Vidal,et al.  Wrap53, a Natural p53 Antisense Transcript Required for p53 Induction upon DNA Damage. , 2016, Molecular cell.

[12]  M. Farnebo,et al.  On the road with WRAP53β: guardian of Cajal bodies and genome integrity , 2015, Front. Genet..

[13]  Z. Ruan,et al.  Increased Risk of Cutaneous Melanoma Associated with p53 Arg72Pro Polymorphism , 2015, PloS one.

[14]  J. Bourdon,et al.  Uncovering the role of p53 splice variants in human malignancy: a clinical perspective , 2013, OncoTargets and therapy.

[15]  S. Mahmoudi WRAP53 Unwrapped; Roles in Nuclear Architecture and Cancer , 2011 .

[16]  L. Henríquez-Hernández,et al.  Distribution of TYMS, MTHFR, p53 and MDR1 gene polymorphisms in patients with breast cancer treated with neoadjuvant chemotherapy. , 2010, Cancer epidemiology.

[17]  M. Farnebo Wrap53, a novel regulator of p53 , 2009, Cell cycle.

[18]  D. Hua,et al.  Prognostic role of p53 codon 72 polymorphism in gastric cancer patients treated with fluorouracil-based adjuvant chemotherapy , 2008, Journal of Cancer Research and Clinical Oncology.

[19]  R. Catarino,et al.  TP 53 Arg 72 Pro polymorphism is associated with increased overall survival but not response to therapy in Portuguese / Caucasian patients with advanced cervical cancer , 2022 .