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The PMS2 gene is associated with HCVC
https://doi.org/10.25557/2073-7998.2022.07.19-23
Abstract
Chronic viral hepatitis C (HCVC) is a multifactorial disease with a complex genetic component. The present study examined the involvement of the PMS2 gene in the development of HCVC and the progression of fibrosis to cirrhosis. The frequencies of alleles and genotypes of rs1805321 in the PMS2 gene were analyzed in patients with chronic hepatitis C (n=150) and in a population samples from the Tomsk (n=345). The association of the studied marker with HCVC was established: the C allele (p=0.00005) and the CC genotype (p=0.013) predispose to the development of pathology, the TT genotype is protective (p=0.00002). Allele C has been shown to predispose to the development of liver cirrhosis (p = 0.038). The studied SNP may also affect the rate of progression of liver fibrosis in HCVC.
About the Authors
N. P. Babushkina
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
I. A. Goncharova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
A. E. Postrigan
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
A. N. Kucher
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
References
1. Guven M., Guven G.S., Oz E. et al. DNA repair gene XRCC1 and XPD polymorphisms and their association with coronary artery disease risks and micronucleus frequency. Heart Vessels. 2007;22:355-360.
2. Guo Z., Kozlov S., Lavin M.F. et al. ATM activation by oxidative stress. Science. 2010; 330:517-521.
3. GoDARTS and UKPDS Diabetes Pharmacogenetics Study Group; Wellcome Trust Case Control Consortium, Zhou K., Bellenguez C., Spencer C.C. et al.Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes. Nat. Genet. 2011;43:117-120.
4. Verschuren J.J., Trompet S., Deelen J. et al. Non-homologous end-joining pathway associated with occurrence of myocardial infarction: gene set analysis of genome-wide association study data. PLoS ONE. 2013;8:e56262.
5. Ding X., He Y., Hao Q. et al. The association of single nucleotide polymorphism rs189037C>T in ATM gene with coronary artery disease in Chinese Han populations: A case control study. Medicine (Baltimore). 2018;97(4): e9747.
6. Lu G., Moriyama E.N. Vector NTI, a balanced all-in-one sequence analysis suite. Brief Bioinform. 2004;5(4):378-88.
7. Kasela M., Nyström M., Kansikas M. PMS2 expression decrease causes severe problems in mismatch repair. Hum Mutat. 2019 Jul;40(7):904-907. doi: 10.1002/humu.23756.
8. Rahman M.M., Mohiuddin M., Keka Sh.I., et al. Genetic evidence for the involvement of mismatch repair proteins, PMS2 and MLH3, in a late step of homologous recombination. J Biol Chem. 2020 Dec 18;295(51):17460-17475. doi: 10.1074/jbc.RA120.013521.
9. Yang J.D., Hainaut P., Gores G.J., et al. A global view of hepatocellular carcinoma: trends, risk, prevention and management. Nat Rev Gastroenterol Hepatol. 2019 Oct;16(10):589-604. doi: 10.1038/s41575-019-0186-y.
10. Ozer O., Bilezikci B., Aktas S., Sahin F.I. Methylation profile analysis of DNA repair genes in hepatocellular carcinoma with MS-MLPA. DiagnMolPathol. 2013 Dec;22(4):222-7. doi: 10.1097/PDM.0b013e31828ed856.
11. Hinrichsen I., Kemp M., Peveling-Oberhag J., et al. Promoter methylation of MLH1, PMS2, MSH2 and p16 is a phenomenon of advanced-stage HCCs. PLoS One. 2014 Jan 6;9(1):e84453. doi: 10.1371/journal.pone.0084453.
12. Wu L., Quan W., Luo Q., et al. Identification of an Immune-Related Prognostic Predictor in Hepatocellular Carcinoma. Front Mol Biosci. 2020 Sep 24;7:567950. doi: 10.3389/fmolb.2020.567950.
13. Liu Y., Zhang X., Jia J., et al. Correlation between polymorphisms in DNA mismatch repair genes and the risk of primary hepatocellular carcinoma for the Han population in northern China. Scand J Gastroenterol. 2015;50(11):1404-10. doi: 10.3109/00365521. 2015.1045429.
14. Альтшулер Е.П., Серебряная Д.В., Катруха А.Г. Получение рекомбинантных антител и способы увеличения их аффинности. Успехи биологической химии. 2010;50:203-258.
15. Schrader C.E., Edelmann W., Kucherlapati R., Stavnezer J. Reduced isotype switching in splenic B cells from mice deficient in mismatch repair enzymes. J Exp Med. 1999;190:323-330. doi: 10.1084/jem.190.3.323.
16. Peron S., Metin A., Gardes P., et al. Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination. J Exp Med. 2008;205:2465-2472. doi: 10.1084/jem.20080789.
17. Chahwan R., Edelmann W., Scharff M.D., Roa S. Mismatch-mediated error prone repair at the immunoglobulin genes. Biomed Pharmacother. 2011;65:529-536. doi: 10.1016/j.biopha.2011.09.001.
18. Chahwan R., van Oers J.M., Avdievich E., et al. The ATPase activity of MLH1 is required to orchestrate DNA double-strand breaks and end processing during class switch recombination. J Exp Med. 2012;209:671-678. doi: 10.1084/jem.20111531.
19. Zubani G.G., Zivojnovic M., De Smet A., et al. Pms2 and uracil-DNA glycosylases act jointly in the mismatch repair pathway to generate Ig gene mutations at A-T base pairs. J Exp Med. 2017 Apr 3;214(4):1169-1180. doi: 10.1084/jem.20161576.
20. Olave M.C., Graham R.P. Mismatch repair deficiency: The what, how and why it is important. Genes Chromosomes Cancer. 2022 Jun;61(6):314-321. doi: 10.1002/gcc.23015
Review
For citations:
Babushkina N.P., Goncharova I.A., Postrigan A.E., Kucher A.N. The PMS2 gene is associated with HCVC. Medical Genetics. 2022;21(7):19-23. (In Russ.) https://doi.org/10.25557/2073-7998.2022.07.19-23
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