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Identification Of Transcription Factor 7 Like 2 (TCF7L2) SNP Rs7901695 Gene Mutations in Type 2 Diabetes Mellitus Patients Using Direct Polymerase Chain Reaction

Identifikasi Mutasi Gen Transcription factor 7 like 2 (TCF7L2) SNP rs7901695 pada Penderita Diabetes Melitus Tipe-2 Menggunakan Polymerase Chain Reaction Secara Langsung

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DOI:

https://doi.org/10.21070/ups.8349

Keywords:

Type-2 Diabetes Mellitus, TCF7L2, SNPrs7901695, direct PCR, genetic mutation

Abstract

Type-2 Diabetes Mellitus (T2DM) is a chronic metabolic disorder influenced by genetic factors, including mutations in the TCF7L2 gene, particularly the SNP rs7901695. This study aims to detect the rs7901695 mutation in T2DM patients using a direct Polymerase Chain Reaction (PCR) method that is simple and cost-effective. A total of  30 blood samples from T2DM patients were analyzed using allele-specific primers targeting T allele (177 bp) and C allele (367 bp). Most patients were in the 50-59 years age group, indicating the importance of early detection during productive age. Electrophoresis results showed that 28 samples (93.3%) had the heterozygous TC genotype and 2 samples (6.7%) had the homozygous TT genotype, with no CC genotype found.. In conclusion, direct PCR is a practical and efficient method for early genetic identification in T2DM and may support personalized preventive strategies based on genetic screening.

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References

Ditjen P2P, “Saatnya Mengatur Si Manis,” p2p.kemkes.go.id. [Online]. Available: https://p2p.kemkes.go.id/saatnya-mengatur-si-manis/, Diakses pada tanggal 25 oktober 2024 jam 11.54

E. Lewis and Y. Machrina, “Polimorfisme Gen Leptin -2548G > A ( Rs7799039 ) Pada Penderita Diabetes Mellitus Tipe 2 Polymorphism of the Leptin Gene -2548G > A ( Rs7799039 ) In Type 2 Diabetes Mellitus Patients,” vol. 9, no. 1, pp. 87–93, 2023.

K. Tamarai, J. S. Bhatti, and P. H. Reddy, “Molecular and cellular bases of diabetes: Focus on type 2 diabetes mouse model-TallyHo,” Biochim Biophys Acta Mol Basis Dis, vol. 1865, no. 9, pp. 2276–2284, 2019, doi: 10.1016/j.bbadis.2019.05.004.

W. O. A. H. Husein, M. Mushlih, C. S. Rini, and G. R. Hanum, “Identifikasi Mutasi Rs7903146 Pada Gen Tcf7L2 Pada Penderita Diabetes Tipe Ii Di Wilayah Sidoarjo,” Jurnal Sains dan Matematika, vol. 8, no. 1, pp. 28–31, 2023.

M. I. Farrim, A. Gomes, D. Milenkovic, and R. Menezes, “Gene expression analysis reveals diabetes-related gene signatures,” Hum Genomics, vol. 18, no. 1, Dec. 2024, doi: 10.1186/s40246-024-00582-z.

N. DeForest and A. R. Majithia, “Genetics of Type 2 Diabetes: Implications from Large-Scale Studies,” May 01, 2022, Springer. doi: 10.1007/s11892-022-01462-3.

L. Del Bosque-Plata, E. Martínez-Martínez, M. Á. Espinoza-Camacho, and C. Gragnoli, “The Role of TCF7L2 in Type 2 Diabetes,” Diabetes, vol. 70, no. 6, pp. 1220–1228, Jun. 2021, doi: 10.2337/DB20-0573.

V. V. Benberin, T. A. Vochshenkova, G. Z. Abildinova, A. V. Borovikova, and A. A. Nagimtayeva, “Polymorphic genetic markers and how they are associated with clinical and metabolic indicators of type 2 diabetes mellitus in the Kazakh population,” J Diabetes Metab Disord, vol. 20, no. 1, pp. 131–140, 2021, doi: 10.1007/s40200-020-00720-z.

W. Bauer et al., “Dietary macronutrient intake may influence the effects of tcf7l2 rs7901695 genetic variants on glucose homeostasis and obesity-related parameters: A cross-sectional population-based study,” Nutrients, vol. 13, no. 6, 2021, doi: 10.3390/nu13061936.

S. Peng, Y. Zhu, B. Lü, F. Xu, X. Li, and M. Lai, “TCF7L2 gene polymorphisms and type 2 diabetes risk: A comprehensive and updated meta-analysis involving 121 174 subjects,” Mutagenesis, vol. 28, no. 1, pp. 25–37, 2013, doi: 10.1093/mutage/ges048.

Y. Wu, M. Jiang, S. Li, N. R. Waterfield, and G. Yang, “Establish an allele-specific real-time PCR for Leishmania species identification,” Infect Dis Poverty, vol. 11, no. 1, Dec. 2022, doi: 10.1186/s40249-022-00992-y.

T. Islam, Md. S. Rahman, N. Paul, S. Akhteruzzaman, and A. A. Sajib, “Allele-Specific Detection of SLC22A2 rs316019 Variants Associated with Metformin Disposition through the Kidney,” Dubai Diabetes and Endocrinology Journal, vol. 24, no. 1–4, pp. 22–28, 2018, doi: 10.1159/000493584.

N. Angria and S. Susanti, “Polimorfisme Gen Vdr Fok1 In Diabetes Mellitus Patients Using Pcr-Rflp,” Journal of Nursing and Health, Vol 9., No.2, hlm 259-267,2024.

Q. Liu, X. Jin, J. Cheng, H. Zhou, Y. Zhang, and Y. Dai, “Advances in the application of molecular diagnostic techniques for the detection of infectious disease pathogens (Review),” Mol Med Rep, vol. 27, no. 5, May 2023, doi: 10.3892/mmr.2023.12991.

F. Guan, Y. Jin, J. Zhao, J. Ai, and Y. Luo, “A Novel Direct PCR Lysis Buffer Can Improve PCR from Meat Matrices,” Food Anal Methods, vol. 12, no. 1, pp. 100–107, Jan. 2019, doi: 10.1007/s12161-018-1342-7.

M. Francaite-Daugeliene, V. Lesauskaite, A. Tamosiunas, A. Jasukaitiene, and D. Velickienė, “Genetic variants of TCF7L2 gene and its coherence with metabolic parameters in Lithuanian (Kaunas district) women population with previously diagnosed gestational diabetes mellitus compared to general population,” Diabetes Res Clin Pract, vol. 172, 2021, doi: 10.1016/j.diabres.2020.108636.

E. Badriyya and A. Achyar, “Polymerase chain reaction (PCR) primer design to identify SNP rs7901695 transcription factor 7 like 2 (TCF7L2),” Bioscience, vol. 7, no. 1, p. 01, Mar. 2023, doi: 10.24036/0202371122575-0-00.

A. Yuniastuti, R. S. Iswari, and R. Susanti, “The correlation between polymorphism of TCF7L2 gene and the incidence of type 2 Diabetes in Asian: A meta analysis,” in Journal of Physics: Conference Series, Institute of Physics Publishing, Nov. 2019. doi: 10.1088/1742-6596/1321/3/032029.

A. Sinclair, P. Saeedi, A. Kaundal, S. Karuranga, B. Malanda, and R. Williams, “Diabetes and global ageing among 65–99-year-old adults: Findings from the International Diabetes Federation Diabetes Atlas, 9th edition,” Diabetes Res Clin Pract, vol. 162, Apr. 2020, doi: 10.1016/j.diabres.2020.108078.

A. Ali Alhur et al., “Diabetes in the Kingdom of Saudi Arabia: Prevalence, Influencing Factors, and Associated Complications,” Niger Med J, vol. 65, no. 5, pp. 569–580, 2024, doi: 10.60787/nmj.v65i3.543.

H. Jeong and K. Park, “Sex differences in health-related quality of life among older Korean adults with type 2 diabetes mellitus: a cross-sectional study,” Korean Journal of Community Nutrition, vol. 29, no. 4, pp. 336–347, Aug. 2024, doi: 10.5720/kjcn.2024.00003.

S. Ma, Q. Sun, Y. Xu, Q. Tu, and S. Xu, “Identification of risk factors for diabetes in Chinese middle-aged and elderly adults,” Sci Rep, vol. 15, no. 1, Dec. 2025, doi: 10.1038/s41598-025-95813-1.

N. Abuhendi et al., “Genetic polymorphisms associated with type 2 diabetes in the Arab world: A systematic review and meta-analysis,” Diabetes Res Clin Pract, vol. 151, pp. 198–208, May 2019, doi: 10.1016/j.diabres.2019.03.037.

L. Potasso et al., “Clinical Impact of the TCF7L2 Gene rs7903146 Type 2 Diabetes Mellitus Risk Polymorphism in Women with Gestational Diabetes Mellitus: Impaired Glycemic Control and Increased Need of Insulin Therapy,” Experimental and Clinical Endocrinology and Diabetes, vol. 128, no. 10, pp. 663–666, Oct. 2020, doi: 10.1055/a-1008-9223.

W. Ding et al., “Meta-analysis of association between TCF7L2 polymorphism rs7903146 and type 2 diabetes mellitus,” BMC Med Genet, vol. 19, no. 1, Mar. 2018, doi: 10.1186/s12881-018-0553-5.

J. Chen, C. Ning, J. Mu, D. Li, Y. Ma, and X. Meng, “Role of Wnt signaling pathways in type 2 diabetes mellitus,” May 01, 2021, Springer. doi: 10.1007/s11010-021-04086-5.

J. Wang et al., “Association of rs7903146 (IVS3C/T) and rs290487 (IVS3C/T) Polymorphisms in TCF7L2 with Type 2 Diabetes in 9,619 Han Chinese Population,” PLoS One, vol. 8, no. 3, Mar. 2013, doi: 10.1371/journal.pone.0059053.

Posted

2025-07-01