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Volume 26, Issue 118 (September & October 2018)
J Adv Med Biomed Res 2018, 26(118): 9-14 |
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Golbon P, Esmaeilzadeh A, Mahmazi S. Association of ENPP1 (K121Q rs 1044498) and TCF7L2 (C/T rs7903146) Gene Polymorphisms with Type2 Diabetes in Zanjan population (Northwest, Iran). J Adv Med Biomed Res 2018; 26 (118) :9-14
URL: http://journal.zums.ac.ir/article-1-4950-en.html
URL: http://journal.zums.ac.ir/article-1-4950-en.html
1- Dept. of Genetics, Faculty of Basic Sciences, Islamic Azad University, Zanjan Branch, Zanjan, Iran
2- Dept. of Immunology, Faculty of Medicine, Faculty of Medicine, Zanjan University of Medical Science, Zanjan, Iran
3- Dept. of Genetics, Faculty of Basic Sciences, Islamic Azad University, Zanjan Branch, Zanjan, Iran ,sanazmahmazi@yahoo.com
2- Dept. of Immunology, Faculty of Medicine, Faculty of Medicine, Zanjan University of Medical Science, Zanjan, Iran
3- Dept. of Genetics, Faculty of Basic Sciences, Islamic Azad University, Zanjan Branch, Zanjan, Iran ,
Abstract: (147623 Views)
Background and Objective: Ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) is a class II membrane glycoprotein that binds to insulin α receptor and can interfere in insulin signaling pathway. Transcription factor-7-like 2 (TCF7L2) is a transcription factor which plays a critical role in pancreatic β cell activity. ENPP1 and TCF7L2 gene polymorphisms may have functional role in susceptibility to type2 diabetes (T2D). The aim of this study was to investigate the association of reported K121Q and C/T rs7903146 variants of ENPP1 and TCF7L2 genes with the risk of T2D in our population
Material and Methods: 240 T2D and 240 healthy subjects were recruited. Genotyping was carried out by PCR-RFLP method. T test was used for association study.
Results: ENPP1 121Q (CC) genotype was significantly higher in T2D comparing to controls (OR;1.61, 95% CI;1.02-2.55, P=0.02) and a significant association between the frequency of C allele and T2D was observed (OR;1.339, 95%CI;1.04-1.72, P=0.012). TT genotype of TCF7L2 C>T rs7903146 was significantly higher in T2D patients (OR;0.67, 95% CI;0.49-0.98, P=0.02), but the T allele could not significantly affect the risk for T2D in our population.
Conclusion: The high frequency of Q allele of the ENPP1 K121Q and TT genotype of the TCF7L2 might be considered as a predisposing factor for T2D.
Material and Methods: 240 T2D and 240 healthy subjects were recruited. Genotyping was carried out by PCR-RFLP method. T test was used for association study.
Results: ENPP1 121Q (CC) genotype was significantly higher in T2D comparing to controls (OR;1.61, 95% CI;1.02-2.55, P=0.02) and a significant association between the frequency of C allele and T2D was observed (OR;1.339, 95%CI;1.04-1.72, P=0.012). TT genotype of TCF7L2 C>T rs7903146 was significantly higher in T2D patients (OR;0.67, 95% CI;0.49-0.98, P=0.02), but the T allele could not significantly affect the risk for T2D in our population.
Conclusion: The high frequency of Q allele of the ENPP1 K121Q and TT genotype of the TCF7L2 might be considered as a predisposing factor for T2D.
Keywords: Diabetes Mellitus Type 2 [MeSH], Ectonucleotide pyrophosphatase phosphodiesterase 1 [MeSH], Polymorphism [MeSH], Transcription Factor 7-Like 2 [MeSH], PCR-RFLP [MeSH]
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✅ The high frequency of Q allele of the ENPP1 K121Q and TT genotype of the TCF7L2 might be considered as a predisposing factor for T2D.
Type of Study: Original Article |
Subject:
Medical Biology
Received: 2017/11/17 | Accepted: 2018/04/16 | Published: 2018/08/1
Received: 2017/11/17 | Accepted: 2018/04/16 | Published: 2018/08/1
References
1. Bonnefond A, Froguel P, Vaxillaire M. The emerging genetics of type 2 diabetes. Trend Molec Med. 2010; 16(9): 407-16. [DOI:10.1016/j.molmed.2010.06.004] [PMID]
2. Sun X, Yu W, Hu C. Genetics of type 2 diabetes: insights into the pathogenesis and its clinical application. Bio Med Res Int. 2014; 2014: 1-15. [DOI:10.1155/2014/926713] [PMID] [PMCID]
3. Chaudhury A, Duvoor C, Dendi VSR, et al. Clinical review of antidiabetic drugs: Implications for type 2 diabetes mellitus management. Front Endocrinol. 2017; 8: 6. [DOI:10.3389/fendo.2017.00006] [PMID] [PMCID]
4. Mahmazi S, Parivar K, Rahnema M, Ohadi M. Calreticulin novel mutations in type 2 diabetes mellitus. Int J Diabetes Develop Count. 2013; 33(4): 219-25. [DOI:10.1007/s13410-013-0152-0]
5. Association AD. 2. Classification and diagnosis of diabetes. Diabetes Care. 2016; 41: S13-S27. [DOI:10.2337/dc18-S002] [PMID]
6. Lyssenko V, Groop L, Prasad RB. Genetics of type 2 diabetes: it matters from which parent we inherit the risk. Rev Diabet Stud. 2015; 12(3-4): 233-42. [DOI:10.1900/RDS.2015.12.233] [PMID] [PMCID]
7. Neve B, Le Bacquer O, Caron S, et al. Alternative human liver transcripts of TCF7L2 bind to the gluconeogenesis regulator HNF4α at the protein level. Diabetologia. 2014; 57(4): 785-96. [DOI:10.1007/s00125-013-3154-z] [PMID]
8. Jin T. Current understanding on role of the Wnt signaling pathway effector TCF7L2 in glucose homeostasis. Endocrine Rev. 2016; 37(3): 254-77. [DOI:10.1210/er.2015-1146] [PMID]
9. Kasper J, Milton A, Smith A, et al. Cognitive deficits associated with a high-fat diet and insulin resistance are potentiated by overexpression of Ecto-nucleotide pyrophosphatase phosphodiesterase-1. Int J Dev Neuro Sci. 2018; 64: 48-53. [DOI:10.1016/j.ijdevneu.2017.03.011] [PMID] [PMCID]
10. Fajar JK. The association of ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) K121Q gene polymorphism with the risk of type 2 diabetes mellitus in European, American, and African populations: A meta-analysis. J Health Sci. 2016; 6(2): 76-86. [DOI:10.17532/jhsci.2016.358]
11. Costanzo BV, Trischitta V, Di Paola R, et al. The Q allele variant (GLN121) of membrane glycoprotein PC-1 interacts with the insulin receptor and inhibits insulin signaling more effectively than the common K allele variant (LYS121). Diabetes. 2001; 50(4): 831-36. [DOI:10.2337/diabetes.50.4.831] [PMID]
12. Bhambhani G, Bhambhani RG, Thakor NC. Lipid profile of patients with diabetes mellitus: a cross sectional study. Int J Res Med Sci. 2015; 3(11): 3292-95. [DOI:10.18203/2320-6012.ijrms20151179]
13. Daniel MJ. Lipid management in patients with type 2 diabetes. Am Health Drug Bene fits. 2011; 4(5): 312-22.
14. Li Y-y. ENPP1 K121Q polymorphism and type 2 diabetes mellitus in the Chinese population: a meta-analysis including 11 855 subjects. Metabolism. 2012; 61(5): 625-33. [DOI:10.1016/j.metabol.2011.10.002] [PMID]
15. Bhatti JS, Bhatti G, Mastana S, Ralhan S, Joshi A, Tewari R. ENPP1/PC-1 K121Q polymorphism and genetic susceptibility to type 2 diabetes in North Indians. Molec Cell Biochem. 2010; 345(1-2): 249-57. [DOI:10.1007/s11010-010-0579-2] [PMID]
16. Kang JY, Sung SH, Lee YJ, Choi TI, Choi SJ. Impact of ENPP1 K121Q on change of insulin resistance after web-based intervention in korean men with diabetes and impaired fasting glucose. J Korean Med Sci. 2014; 29(10): 1353-59. [DOI:10.3346/jkms.2014.29.10.1353] [PMID] [PMCID]
17. Matsha T, Fanampe B, Yako Y, et al. Association of the ENPP1 rs997509 polymorphism with obesity in South African mixed ancestry learners. East Afr Med J. 2010; 87(8): 323-9.
18. Prakash J, Mittal B, Awasthi S, Agarwal C, Srivastava N. K121Q ENPP1/PC-1 gene polymorphism is associated with insulin resistance in a North Indian population. J Genetic. 2013; 92(3): 571-76. [DOI:10.1007/s12041-013-0287-2]
19. Sortica DA, Buffon MP, Souza BM, et al. Association between the ENPP1 K121Q polymorphism and risk of diabetic kidney disease: A systematic review and meta-analysis. PloS one. 2015; 10(3): e0118416. [DOI:10.1371/journal.pone.0118416] [PMID] [PMCID]
20. Sumi S, Ramachandran S, RamanKutty V, et al. ENPP1 121Q functional variant enhances susceptibility to coronary artery disease in South Indian patients with type 2 diabetes mellitus. Mol Cell Biochem. 2017; 435(1-2): 67-72. [DOI:10.1007/s11010-017-3057-2] [PMID]
21. Hansson O, Zhou Y, Renström E, Osmark P. Molecular function of TCF7L2: Consequences of TCF7L2 splicing for molecular function and risk for type 2 diabetes. Current Diabete Report. 2010; 10(6): 444-51. [DOI:10.1007/s11892-010-0149-8] [PMID]
22. Shokouhi S, Delpisheh A, Haghani K, Mahdizadeh M, Bakhtiyari S. Association of rs7903146, rs12255372, and rs290487 polymorphisms in TCF7L2 gene with type 2 diabetes in an Iranian Kurdish ethnic group. Clin Lab. 2014; 60(8): 1269-76. [DOI:10.7754/Clin.Lab.2013.130809]
23. Palizban A, Nikpour M, Salehi R, Maracy M-R. Association of a common variant in TCF7L2 gene with type 2 diabetes mellitus in a Persian population. Clin Experiment Med. 2012; 12(2): 115-19. [DOI:10.1007/s10238-011-0144-7] [PMID]
24. Tong Y, Lin Y, Zhang Y, et al. Association between TCF7L2gene polymorphisms and susceptibility to type 2 diabetes mellitus: a large human genome epidemiology (HuGE) review and meta-analysis. BMC Med Genet. 2009; 10: 15. [DOI:10.1186/1471-2350-10-15] [PMID] [PMCID]
25. Grant SF, Thorleifsson G, Reynisdottir I, et al. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nature Genetics. 2006; 38(3): 320-23. [DOI:10.1038/ng1732] [PMID]
26. Javorský M, Babjaková E, Klimčáková L, et al. Association between TCF7L2 genotype and glycemic control in diabetic patients treated with gliclazide. Int J Endocrinol. 2013; 2013: 374858. [DOI:10.1155/2013/374858] [PMID] [PMCID]
27. Florez JC, Jablonski KA, Bayley N, et al. TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention Program. New Eng J Med. 2006; 355(3): 241-50. [DOI:10.1056/NEJMoa062418] [PMID] [PMCID]
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