Nguyen Thi Thuy Mau, Pham Thi Hong Nhung, Do Thi Le Hang, Phi Thi Tu Anh, Vu Thi Thom, Pham Thi Quan

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Metformin is currently recommended as a first-line drug for treatment of hyperglycemia in patients with type 2 diabetes. Nevertheless, the drug’s treatment effect is not uniform in all patients. The recent studies have indicated that the single-nucleotide polymorphism (SNP) rs11212617 (C>A) (11q22.3), located near the ataxia telangiectasia mutated (ATM) gene, is associated with Metformin treatment response, in which, allele C is better than allele A. Therefore, an SNP detecting protocol for a group of Vietnamese type 2 diabetic patients was to be established. The DNA, PCR and sequencing-extracted blood samples were applied to identify rs11212617 polymorphism among 22 Vietnamese patients. Out of the 22 patients genotyped for rs11212617 polymorphism, CC and AA were the homozygous genotypes with frequency of 54.5% and 13.7%, respectively. 31.8% of the patients had heterozygous genotype CA. The frequencies of allele C and allele A were 0.71 and 0.29, respectively. This result is expected to help develop further studies aimed to evaluate the association between genetic polymorphism with clinically drug response in Vietnamese population and thereby, improving the effectiveness of treatment.


Single nucleotide polymorphism, rs11212617, ATM gene, metformin, type 2 diabetes.


World Health Organization, Global report on Diabetes. 2016: Geneva.
[2] Bộ Y Tế (2015), Báo cáo tổng quan chung ngành Y tế năm 2014. Tăng cường dự phòng và kiểm soát bệnh không lây nhiễm, NXB Y học pp.138-175.
[3] D.L. Kasper, S.L. Hause, A.S. Fauci, D.L. Longo, J.L. Jameson, and J. Loscaizo (2012), “Diabetes Mellitus: Diagnosis, classification and pathophysiology”, in Harrison's Principles of Internal Medicine 19th Edition, D.L. Kasper, S.L. Hause, A.S. Fauci, D.L. Longo, J.L. Jameson, and J. Loscaizo, Editors, McGraw Hill Education, pp. 2399-2407.
[4] American Diabetes Association (2017), “Standards of medical care in diabetes - 2017”, Diabetes Care, 40 (Suppl 1).
[5] S.F. University of California. Gene variant explains differences in diabetes drug response. ScienceDaily 2016 [cited 21/10/2017]; Available from:
[6] N. Van Leeuwen, G. Nijpels, M.L. Becker, H. Deshmukh, K. Zhou, et al. (2012), “A gene variant near ATM is significantly associated with metformin treatment response in type 2 diabetes: a replication and meta-analysis of five cohorts”, Diabetologia, 55(7), pp. 1971-1977.
[7] K. Zhou, C. Bellenguez, C.C. Spencer, A.J. Bennett, R.L. Coleman, et al. (2011), “Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes”, Nature genetics, 43(2), pp. 117-120.
[8] F. Shokri, H. Ghaedi, S. Ghafouri Fard, A. Movafagh, S. Abediankenari, A. Mahrooz, Z. Kashi, and M.D. Omrani (2016), “Impact of ATM and SLC22A1 Polymorphisms on Therapeutic Response to Metformin in Iranian Diabetic Patients”, International Journal of Molecular and Cellular Medicine, 5(1), pp. 1-7.
[9] J.C. Florez, K.A. Jablonski, A. Taylor, K. Mather, E. Horton, N.H. White, E. Barrett-Connor, W.C. Knowler, A.R. Shuldiner, T.I. Pollin, and D.P.P.R. Group (2012), “The C allele of ATM rs11212617 does not associate with metformin response in the Diabetes Prevention Program”, Diabetes Care, 35(9), pp. 1864-1867.
[10] Y. Zhou, Y. Guo, W. Ye, Y. Wang, X. Li, Y. Tian, Z. Liu, S. Li, and J. Yan (2014), “RS11212617 is associated with metformin treatment response in type 2 diabetes in Shanghai local Chinese population”, International Journal of Clinical Practice, 68(12), pp. 1462-1466.
[11] Bộ Y Tế (2017), Hướng dẫn chẩn đoán và điều trị đái tháo đường týp 2, NXB Y học pp.1-17.
[12] Y. Espach, A. Lochner, H. Strijdom, and B. Huisamen (2015), “ATM protein kinase signaling, type 2 diabetes and cardiovascular disease”, Cardiovascular Drugs and Therapy, 29(1), pp. 51-58.
[13] S. Schiekofer, I. Bobak, M.E. Kleber, W. Maerz, G. Rudofsky, K.A. Dugi, and J.G. Schneider (2014), “Association between a gene variant near ataxia telangiectasia mutated and coronary artery disease in men”, Diabetes and Vascular Disease Research, 11(1), pp. 60-63.
[14] X. Ding, Y. He, Q. Hao, S. Chen, M. Yang, S.X. Leng, J. Yue, and B. Dong (2018), “The association of single nucleotide polymorphism rs189037C>T in ATM gene with coronary artery disease in Chinese Han populations”, Medicine, 97(4).
[15] M.W. Chaudhary and R.S. Al-Baradie (2014), “Ataxia-telangiectasia: future prospects”, The Application of Clinical Genetics, 7, pp. 159-167.