Display options
Cite
Olkova MV, Balanovsky OP. Analysis of the Frequency of 10 Polymorphic Markers of CDKN2A and RB1 Genes in Russian Populations. Bull Exp Biol Med. 2022;doi: 10.1007/s10517-022-05391-9.
Olkova, M. V., & Balanovsky, O. P. (2022). Analysis of the Frequency of 10 Polymorphic Markers of CDKN2A and RB1 Genes in Russian Populations. Bulletin of experimental biology and medicine, . https://doi.org/10.1007/s10517-022-05391-9
Olkova, M V, and Balanovsky, O P. "Analysis of the Frequency of 10 Polymorphic Markers of CDKN2A and RB1 Genes in Russian Populations." Bulletin of experimental biology and medicine vol. (2022). doi: https://doi.org/10.1007/s10517-022-05391-9
Olkova MV, Balanovsky OP. Analysis of the Frequency of 10 Polymorphic Markers of CDKN2A and RB1 Genes in Russian Populations. Bull Exp Biol Med. 2022 Jan 10; doi: 10.1007/s10517-022-05391-9. Epub 2022 Jan 10. PMID: 35001307.
Copy Download .nbib Format: NLM
Share it on

Bull Exp Biol Med. 2022 Jan 10; doi: 10.1007/s10517-022-05391-9. Epub 2022 Jan 10.

Analysis of the Frequency of 10 Polymorphic Markers of CDKN2A and RB1 Genes in Russian Populations.

Bulletin of experimental biology and medicine

M V Olkova, O P Balanovsky

Affiliations

  1. N. P. Bochkov Research Centre for Medical Genetics, Moscow, Russia. [email protected].
  2. N. I. Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia. [email protected].
  3. N. P. Bochkov Research Centre for Medical Genetics, Moscow, Russia.
  4. N. I. Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.
  5. Biobank of Northern Eurasia, Moscow, Russia.

PMID: 35001307 DOI: 10.1007/s10517-022-05391-9

Abstract

The study of population frequencies of rare clinically significant alleles is a prerequisite of the development of personalized medicine. We performed genotyping of 1785 DNA samples from representatives of Russian populations according to 10 benign polymorphic markers of two genes involved in oncogenesis: 3 variants of the CDKN2A gene (rs3731249, rs116150891, and rs6413464) and 7 markers of the RB1 gene (rs149800437, rs147754935, rs183898408, rs146897002, rs4151539, rs187912365, and rs144668210). Genotyping was performed using the Illumina biochip test system. The sample covered 28 populations of the Russian Federation and neighboring countries, which were later combined into 3 groups (Asian, European, and Caucasian). The information from the ALFA (NCBI) project was used as reference for the frequencies of these polymorphisms in the Asian and European populations. It was shown that rare alleles in 8 of 10 studied polymorphic markers are presented in Russian populations of European and Caucasian origin with frequencies that are tens and hundreds of times higher than the available data for Western European populations, and in Russian Asian populations, alternative alleles of 5 markers absent in the Asian population of the ALFA project were found. In the subpopulation of Astrakhan Tatars, exceptionally high frequencies of rare alleles were identified; this requires further study.

© 2022. Springer Science+Business Media, LLC, part of Springer Nature.

Keywords: CDKN2A; RB1; genetic epidemiology; oncomarker; population frequency of the polymorphism

References

  1. ALFA: Allele Frequency Aggregator [URL: https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/ ]. - PubMed
  2. Cooper DN, Krawczak M, Polychronakos C, Tyler-Smith C, Kehrer-Sawatzki H. Where genotype is not predictive of phenotype: Towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum. Genet. 2013;132(10):1077-1130. doi: https://doi.org/10.1007/s00439-013-1331-2 - PubMed
  3. de Smith AJ, Walsh KM, Hansen HM, Barcellos LF, Chokkalingam AP, Jenkins RB, Wrensch MR, Wiencke JK, Metayer C, Wiemels JL. Missense SNP rs3731249 explains the CDKN2A association with childhood ALL and ahows risk allele selection in tumors with somatic CDKN2A alterations. Blood. 2014;124(21):129. doi: https://doi.org/10.1182/blood.V124.21.129.129 - PubMed
  4. DeRycke MS, Gunawardena S, Balcom JR, Pickart AM, Waltman LA, French AJ, McDonnell S, Riska SM, Fogarty ZC, Larson MC, Middha S, Eckloff BW, Asmann YW, Ferber MJ, Haile RW, Gallinger S, Clendenning M, Rosty C, Win AK, Buchanan DD, Hopper JL, Newcomb PA, Le Marchand L, Goode EL, Lindor NM, Thibodeau SN. Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. Mol. Genet. Genomic Med. 2017;5(5):553-569. doi: https://doi.org/10.1002/mgg3.317 - PubMed
  5. Dyson NJ. RB1: A prototype tumor suppressor and an enigma. Genes Dev. 2016;30(13):1492-1502. doi: https://doi.org/10.1101/gad.282145.116 - PubMed
  6. Ferru A, Fromont G, Gibelin H, Guilhot J, Savagner F, Tourani JM, Kraimps JL, Larsen CJ, Karayan-Tapon L. The status of CDKN2A alpha (p16INK4A) and beta (p14 ARF) transcripts in thyroid tumour progression. Br. J. Cancer. 2006;95(12):1670-1677. doi: https://doi.org/10.1038/sj.bjc.6603479 - PubMed
  7. Hassler M, Singh S, Yue WW, Luczynski M, Lakbir R, Sanchez-Sanchez F, Bader T, Pearl LH, Mittnacht S. Crystal structure of the retinoblastoma protein N domain provides insight into tumor suppression, ligand interaction, and holoprotein architecture. Mol. Cell. 2007;28(3):371-385. doi: https://doi.org/10.1016/j.molcel.2007.08.023 - PubMed
  8. Sen M, Akeno N, Reece A, Miller AL, Simpson DS, Wikenheiser-Brokamp KA. p16 controls epithelial cell growth and suppresses carcinogenesis through mechanisms that do not require RB1 function. Oncogenesis. 2017;6(4):e320. doi: https://doi.org/10.1038/oncsis.2017 . - PubMed
  9. Uchida C. Roles of pRB in the regulation of nucleosome and chromatin structures. Biomed. Res. Int. 2016;2016:5959721. doi: https://doi.org/10.1155/2016/5959721 - PubMed
  10. What is ClinVar? [URL: https://www.ncbi.nlm.nih.gov/clinvar/intro/ ]. - PubMed

Publication Types