The Development of Rs2853826 Genotyping and the Initial Association with Breast Cancer Risk in Vietnamese Women
Duong Thi Hong Hanh*, Nguyen Thi Ngoc Thanh and Nguyen Thi Hue
Department of Biology and Biotechnology, University of Science, Vietnam National University, 227 Nguyen Van Cu St., Ward 4, District 5, 700000, Ho Chi Minh City, Vietnam.
Breast cancer (BC) is known as the leading cause of dead in women through worldwide including Vietnam. Recently, mitochondrial genome mutations concerned to breast cancer has been screened in order to propose new potential biomarkers. The SNP rs2853826 located at 10398-nucleotide position within the NADH-dehydrogenase3 has been demonstrated to be associated with BC in populations such as Malaysian, Northern Indian, Poland, Banglasdesh, African-American, Eropean-American, but Vietnam. Thus, rs2853826 was selected as the candidate SNP for investigation in Vietnamese population. In this study, the High Resolution Melting method is optimized for genotyping 100/100 cases/controls samples, then determined the association between this SNP and the disease. The genotyping results revealed SNP rs2853826 has high polymorphism with the minor allele frequency, G allele, was 17.2%. risk allele G was 17.2 %. The association result between rs2853826 and BC revealed that G allele tend to increases risk of BC among Vietnamese when comparing A allele (OR[95%CI]=1.224[0.818-1.832]); and homozygote and heterozygote model also showed this trend when compared to dominant model. Since the p-values were larger 0.05 (p=0.326), our results only show a trend correlation rather than a significant association between SNP rs2853826 and BC risk. However, the reliability of this association analysis result is low (7.57%), so this research needs to be conducted with a larger sample size to reach the greater power (>90%) for therelation.
Keywords: Breast cancer, ND3, rs2853826, HRM
How to cite this article:
Duong Thi Hong Hanh, Nguyen Thi Ngoc Thanh and Nguyen Thi Hue. The Development of Rs2853826 Genotyping and the Initial Association with Breast Cancer Risk in Vietnamese Women .International Research Journal of Obstetrics and Gynecology, 2019, 2:6
1. Bray, F., et al., Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA: a cancer journal for clinicians, 2018. 68(6): p. 394-424.
2. Ministry of Health of Viet Nam, H.P.G. Join annual health review 2014: strengthening prevention and control of non-communicable diseases. 2014. Ministry of Health of Viet Nam Hanoi.
3. Trieu, P.D.Y., C. Mello-Thoms, and P.C. Brennan, Female breast cancer in Vietnam: a comparison across Asian specific regions. Cancer biology & medicine, 2015. 12(3): p. 238.
4. Vuong, D.A., et al., Temporal trends of cancer incidence in Vietnam, 1993-2007. Asian Pac J Cancer Prev, 2010. 11(3): p. 739-45.
5. Easton, D.F., How many more breast cancer predisposition genes are there? Breast Cancer Res, 1999. 1(1): p. 14-17.
6. Ripperger, T., et al., Breast cancer susceptibility: current knowledge and implications for genetic counselling. Eur J Hum Genet, 2009. 17(6): p. 722-731.
7. Nathanson, K.L., R. Wooster, and B.L. Weber, Breast cancer genetics: what we know and what we need. Nat Med, 2001. 7(5): p. 552-556.
8. Balmain, A., J. Gray, and B. Ponder, The genetics and genomics of cancer. Nat Genet, 2003. 33 Suppl: p. 238-244.
9. Pharoah, P.D., et al., Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet, 2002. 31(1): p. 33-6.
10. Chatterjee, A., S. Dasgupta, and D. Sidransky, Mitochondrial subversion in cancer. Cancer prevention research, 2011. 4(5): p. 638-654.
11. Księżakowska-Łakoma, K., M. Żyła, and J.R. Wilczyński, Mitochondrial dysfunction in cancer. Przeglad menopauzalny= Menopause review, 2014. 13(2): p. 136.
12. Bianchi, N.O., M.S. Bianchi, and S.M. Richard, Mitochondrial genome instability in human cancers. Mutation Research/Reviews in Mutation Research, 2001. 488(1): p. 9-23.
13. Lièvre, A., et al., Clinical value of mitochondrial mutations in colorectal cancer. Journal of Clinical Oncology, 2005. 23(15): p. 3517-3525.
14. Canter, J.A., et al., Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African-American women. Cancer research, 2005. 65(17): p. 8028-8033.
15. Darvishi, K., et al., Mitochondrial DNA G10398A polymorphism imparts maternal Haplogroup N a risk for breast and esophageal cancer. Cancer letters, 2007. 249(2): p. 249-255.
16. Baharudin, N.T., H. Jaafar, and Z. Zainuddin, Association of mitochondrial DNA 10398 polymorphism in invasive breast cancer in malay population of peninsular malaysia. The Malaysian journal of medical sciences: MJMS, 2012. 19(1): p. 36.
17. Czarnecka, A.M., et al., Mitochondrial NADH-dehydrogenase subunit 3 (ND3) polymorphism (A10398G) and sporadic breast cancer in Poland. Breast cancer research and treatment, 2010. 121(2): p. 511-518.
18. Bai, R.-K., et al., Mitochondrial genetic background modifies breast cancer risk. Cancer research, 2007. 67(10): p. 4687-4694.
19. Wittwer, C.T., et al., High-resolution genotyping by amplicon melting analysis using LCGreen. Clinical chemistry, 2003. 49(6): p. 853-860.
20. Liew, M., et al., Genotyping of single-nucleotide polymorphisms by high-resolution melting of small amplicons. Clinical chemistry, 2004. 50(7): p. 1156-1164.
21. Vali, Z., et al., Development of a high-resolution melting analysis method based on SYBR Green-I for rs7216389 locus genotyping in asthmatic child patients. Avicenna journal of medical biotechnology, 2014. 6(2): p. 72.
22. Krypuy, M., et al., High resolution melting for mutation scanning of TP53 exons 5–8. BMC cancer, 2007. 7(1): p. 168.
23. James, P.A., et al., Optimal selection of individuals for BRCA mutation testing: a comparison of available methods. J Clin Oncol, 2006. 24(4): p. 707-715.
24. Garritano, S., et al., Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus. BMC genetics, 2009. 10(1): p. 5.
25. Minucci, A., et al., High Resolution Melting Analysis is Very Useful to Identify BRCA1 c. 4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA. Molecular diagnosis & therapy, 2017. 21(2): p. 217.
26. Vorkas, P.A., et al., Mutation scanning of exon 20 of the BRCA1 gene by high-resolution melting curve analysis. Clinical biochemistry, 2010. 43(1-2): p. 178-185.
27. Nguyen‐Dumont, T., et al., Description and validation of high‐throughput simultaneous genotyping and mutation scanning by high‐resolution melting curve analysis. Human mutation, 2009. 30(6): p. 884-890.
28. Hue, N.T., et al., Extraction of human genomic DNA from dried blood spots and hair roots. International Journal of Bioscience, Biochemistry and Bioinformatics, 2012. 2(1): p. 21.
29. Fisher, R.A. and F. Yates, Statistical Tables for Biological, Agricultural and Medical Research. 1963, Oliver and Boyd, Edinburgh.
30. Jiang, H., et al., Peripheral blood mitochondrial DNA content, A10398G polymorphism, and risk of breast cancer in a Han Chinese population. Cancer science, 2014. 105(6): p. 639-645.
31. Jeffrey A. Canter, et al., Mitochondrial DNA G10398A Polymorphism and Invasive Breast Cancer in African-American Women. 2005.
32. Setiawan, V.W., et al., Mitochondrial DNA G10398A variant is not associated with breast cancer in African-American women. Cancer genetics and cytogenetics, 2008. 181(1): p. 16-19.
33. Sultana, G.N.N., et al., Breast cancer risk associated mitochondrial NADH-dehydrogenase subunit-3 (ND3) polymorphisms (G10398A and T10400C) in Bangladeshi women. Journal of Medical Genetics and Genomics, 2011. 3(8): p. 131-135.
34. Francis, A., et al., A mitochondrial DNA variant 10398G> A in breast cancer among South Indians: an original study with meta-analysis. Mitochondrion, 2013. 13(6): p. 559-565.
35. Ismaeel, H.M., H.Q. Younan, and R.A. Zahid, Mitochondrial DNA A10398G mutation is not associated with breast cancer risk in a sample of iraqi women. Current Research Journal of Biological Sciences, 2013. 5(3): p. 126-129.
36. Anderson, S., et al., Sequence and organization of the human mitochondrial genome. Nature, 1981. 290(5806): p. 457.
37. Setiawan, V.W., et al., Mitochondrial DNA G10398A variant is not associated with breast cancer in African-American women. Cancer Genetics, 2008. 181(1): p. 16-19.