Association of H19 polymorphism with breast cancer risk: a meta-analysis

   The meta-analysis was aimed to evaluate the association between polymorphisms rs2107425, rs2839698, rs217727, rs3741219 of the H19 gene and the risk of developing of breast cancer. Publications were searched in the Google Scholar and PubMed databases until August 2023. The association was assessed by statistical odds ratio (OR) criteria with a 95% confidence interval (CI). RevMan software (Cochrane Collaboration, 5.3. Copenhagen) was used for the meta-analysis. To assess the association of polymorphisms rs2107425, rs2839698, rs217727, rs3741219 with the risk of developing breast cancer, 9 case-control studies with a total sample of 6572 patients with breast cancer and 6968 donors in the control group were included in the meta-analysis. As a result of the study, we observed an association between rs2839698 H19 and the risk of developing breast cancer when calculating the allelic model (OR = 1.33, 95 % CI: 1.00-1.76, Pz = 0.005, Pi2 = < 0.00001). In addition, analysis of the recessive model also showed that the risk of developing breast cancer was significantly associated in individuals with a mutation in the polymorphic allele rs2839698 (OR = 1.33, 95 % CI: 1.03-1.71, Pz = 0.03, Pi2 = 0.05). When calculating genetic models for the rs2107425, rs217727, rs3741219 polymorphisms, no statistically significant associations with the risk of developing breast cancer were found. The present meta-analysis showed that the H19 rs2839698 polymorphism associated with the risk of breast cancer.

1. Sung H., Ferlay J., Siegel R.L. et al. Global Cancer Statistics 2020: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries. CA Cancer J Clin. 2021;71(3):209-249. doi: 10.3322/caac.21660

2. Yuan Y., Wang Y., Niu X. et al. Association of lncRNA H19 polymorphisms with cancer susceptibility: An updated meta-analysis based on 53 studies. Frontiers in genetics. 2022;(13):1051766. doi: 10.3389/fgene.2022.1051766

3. Taniue K., Akimitsu N.. The Functions and Unique Features of LncRNAs in Cancer Development and Tumorigenesis. Int J Mol Sci. 2021;22(2):632. doi: 10.3390/ijms22020632

4. Ghahramani Almanghadim H., Ghorbian S., Khademi N.S. et al. New Insights into the Importance of Long Non-Coding RNAs in Lung Cancer: Future Clinical Approaches. DNA and cell biology. 2021;40(12):1476–1494. doi: 10.1089/dna.2021.0563

5. Kallen A.N., Zhou X.B., Xu J. et al. The imprinted H19 lncRNA antagonizes let-7 microRNAs. Molecular cell. 2013;52(1):101–112. doi: 10.1016/j.molcel.2013.08.027

6. Yoshimizu T., Miroglio A., Ripoche M.A. et al. The H19 locus acts in vivo as a tumor suppressor. Proceedings of the National Academy of Sciences of the United States of America. 2008;105(34):2417–12422. doi: 10.1073/pnas.0801540105

7. Zhang L., Yang F., Yuan J.H. et al. Epigenetic activation of the MiR-200 family contributes to H19-mediated metastasis suppression in hepatocellular carcinoma. Carcinogenesis. 2013;34(3):577–586. doi: 10.1093/carcin/bgs381

8. Moher D., Shamseer L., Clarke M. et al. Preferred reporting items for systematic review and meta-analysis protocols (PRISMA-P) 2015 statement. Syst Rev. 2015;4(1):1. doi: 10.1186/2046-4053-4-1

9. Barnholtz-Sloan J.S., Shetty P.B., Guan X. et al. FGFR2 and other loci identified in genome-wide association studies are associated with breast cancer in African-American and younger women. Carcinogenesis. 2010;31(8):1417–1423. doi: 10.1093/carcin/bgq128

10. Butt S., Harlid S., Borgquist S. et al. Genetic predisposition, parity, age at first childbirth and risk for breast cancer. BMC research notes. 2012;(5):414. URL: https://www.researchgate.net/publication/230621915_Genetic_predisposition_parity_age_at_first_childbirth_and_risk_for_breast_cancer

11. Gong W.J., Yin J.Y., Li X.P. et al. Association of well-characterized lung cancer lncRNA polymorphisms with lung cancer susceptibility and platinum-based chemotherapy response. Tumour biology: the journal of the International Society for Oncodevelopmental Biology and Medicine. 2016;37(6):8349–8358. doi: 10.1007/s13277-015-4497-5

12. Xia Z., Yan R., Duan F. et al. Genetic Polymorphisms in Long Noncoding RNA H19 Are Associated With Susceptibility to Breast Cancer in Chinese Population. Medicine. 2016;95(7):e2771. doi: 10.1097/MD.0000000000002771

13. Hassanzarei S., Hashemi M., Sattarifard H. et al. Genetic polymorphisms in long noncoding RNA H19 are associated with breast cancer susceptibility in Iranian population. Meta Gene. 2017 Dec;(14):1-5. doi: 10.2147/OTT.S127962

14. Lin Y., Fu F., Chen Y. et al. Genetic variants in long noncoding RNA H19 contribute to the risk of breast cancer in a southeast China Han population. OncoTargets and therapy. 2017;(10):4369–4378. doi: 10.2147/OTT.S127962

15. Cui P., Zhao Y., Chu X. et al. SNP rs2071095 in LincRNA H19 is associated with breast cancer risk. Breast cancer research and treatment. 2018;171(1):161–171. URL: https://link.springer.com/article/10.1007/s10549-018-4814-y

16. Abdollahzadeh S., Ghorbian S. Association of the study between LncRNA-H19 gene polymorphisms with the risk of breast cancer. Journal of clinical laboratory analysis. 2019;33(3):e22826. doi: 10.1002/jcla.22826

17. Safari M.R., Mohammad Rezaei F., Dehghan A. et al. Genomic variants within the long non-coding RNA H19 confer risk of breast cancer in Iranian population. Gene. 2019;(701):121–124. doi: 10.1016/j.gene.2019.03.036

18. Li W., Jiang X., Jin X. et al. Significant association between long non-coding RNA H19 polymorphisms and cancer susceptibility: A PRISMA-compliant meta-analysis and bioinformatics prediction. Medicine (Baltimore). 2020 Apr;99(15):e19322. doi: 10.1097/MD.0000000000019322

19. Kit O..I, Timofeeva S.V., Sitkovskaya A.O. et al. Biobank of the “National Medical Research Centre for Oncology” as a resource for conducting research in the field of personalized medicine. Modern Oncology. 2022; (24):6-11. doi: 10.26442/18151434.2022.1.201384

20. Chen L., Zhang S. Long noncoding RNAs in cell differentiation and pluripotency. Cell and tissue research. 2016;366(3):509–521. doi: 10.1007/s00441-016-2451-5

21. Gao Y., Liu Y., Du L. et al. Down-regulation of miR-24-3p in colorectal cancer is associated with malignant behavior. Medical oncology (Northwood, London, England). 2015;32(1):362. doi: 10.1007/s12032-014-0362-4

22. Liu X., Zhao Y., Li Y., Zhang J. Quantitative assessment of lncRNA H19 polymorphisms and cancer risk: a meta-analysis based on 48,166 subjects. Artificial cells, nanomedicine, and biotechnology. 2020;48(1):15–27. doi: 10.1080/21691401.2019.1699804

23. Vladimirova L.Yu., Storozhakova A.E., Snezhko T.A., et al. Hormone-positive HER2-negative metastatic breast cancer: decision making in real clinical practice. South Russian Journal of Cancer. 2020;1(2):46-51. doi: 10.37748/2687-0533-2020-1-2-6