Introduction: Type 2 Diabetes (T2D) is chronic metabolic disorder that has genetic component. Single Nucleotide Polymorphism (SNP) is the variation single position in DNA sequence among individuals. Glucokinase Regulatory Protein (GCKR) and Potassium Voltage-Gated Channel Subfamily Q (KCNQ1) are SNP genes. The risk or cytosine (C) allele in gene variant GCKR rs780094 and KCNQ1 rs2237892 were associated with incidence of T2D in Asian-Caucasian populations. The aim of this study was to determine frequency of those gene variants and combined genotype in T2D patients in urban area in South Tangerang, Indonesia. Methods: Fifty-four T2D subjects were identified SNP genes using real time Polymerase Chain Reaction techniques. Results: Frequency C allele in GCKR rs780094 was 54.63% and the most common genotype was heterozygous (CT) 46.3%. Frequency of non-risk (T) allele in KCNQ1 rs223792 was 62.03% with the highest homozygous non-risk (TT) genotype 50%. The most common genotype in GCKR and KCNQ1 control group were CT 55%. The highest frequency of combined genotype was CT/TT 25.92%. Conclusion: Gene variant GCKR rs 780094 had more risk allele (C) in T2D patients in urban area in South Tangerang, Indonesia with the most common genotype CT while KCNQ1 rs2237892 had more non-risk alleles (T) with most common genotype TT. The most abundant genotype for GCKR rs780094 and KCNQ1 rs2237892 in control group were CT and the highest frequency of combined genotype was CT/TT.
Published in | American Journal of Health Research (Volume 10, Issue 4) |
DOI | 10.11648/j.ajhr.20221004.13 |
Page(s) | 169-174 |
Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
Copyright |
Copyright © The Author(s), 2022. Published by Science Publishing Group |
Type 2 Diabetes Mellitus, Variant Gene, Combined Genotype, GCKR rs 780094, KCNQ1 rs223782
[1] | World Health Organization, “Classification of Diabetes Mellitus,” 2019. [Online]. Available: https://apps.who.int/iris/rest/bitstreams/1233344/retrieve. [Accessed: Sept-2021]. |
[2] | Tim Penyusun Buku Pedoman Pengelolaan dan Pencegahan Diabetes Melitus Tipe 2 di Indonesia 2021, Pedoman Pengelolaan dan Pencegahan Diabetes Melitus Tipe 2 Dewasa di Indonesia 2021. Jakarta: PB PERKENI, 2021. Available: https://pbperkeni.or.id/wp-content/uploads/2021/11/22-10-21-Website-Pedoman-Pengelolaan-dan-Pencegahan-DMT2-Ebook.pdf. [Accessed: Sept-2021]. |
[3] | R. B. Prasad and L. Groop, “Genetics of Type 2 Diabetes—Pitfalls and Possibilities,” Genes (Basel)., vol. 6, no. 1, pp. 87–123, 2015, doi: 10.3390/genes6010087. |
[4] | J. B. Reece, L. A. Urry, M. L. Cain, S. A. Wasserman, P. V.Minorsky, and R. B.Jackson, Campbell Biology, 10th ed. Unites States of America: Pearson Education, 2011. |
[5] | “Allele.” [Online]. Available: https://www.genome.gov/genetics-glossary/Allele. [Accessed: 04-Mar-2021]. |
[6] | W. Zhou et al., “Gene-gene interactions lead to higher risk for development of type 2 diabetes in a Chinese Han population : a prospective nested case-control study,” pp. 1–9, 2018, doi: 10.1186/s12944-018-0813-6. |
[7] | Y. Ling, X. Li, Q. Gu, H. Chen, D. Lu, and X. Gao, “Associations of common polymorphisms in GCKR with type 2 diabetes and related traits in a Han Chinese population : a case-control study,” no. Ld, 2011, doi: 10.1186/1471-2350-12-66. |
[8] | J. Dupuis et al., “New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk,” Nat. Genet., vol. 42, no. 2, pp. 105–116, 2010, doi: 10.1038/ng.520. |
[9] | R. Saxena, “Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels,” Science (80-.)., vol. 316, pp. 1331–1336, 2007. Available: https://www.science.org/doi/10.1126/science.1142358. [Accessed: Sept-2021]. |
[10] | R. Ali et al., “KCNQ1 Variants Associate with Type 2 Diabetes in Malaysian Malay Subjects,” Ann Acad Med Singap., vol. 40, no. 11, pp. 488–92, 2011. Available: http://www.annals.edu.sg/pdf/40VolNo11Nov2011/V40N11p488.pdf. [Accessed: Sept-2021]. |
[11] | C. Hu et al., “Effects of GCK, GCKR, G6PC2 and MTNR1B Variants on Glucose Metabolism and Insulin Secretion,” vol. 5, no. 7, pp. 5–10, 2010, doi: 10.1371/journal.pone.0011761. |
[12] | S. Jamalpour, S. M. Zain, M. Mosavat, Z. Mohamed, and S. Z. Omar, “A case-control study and meta-analysis confirm glucokinase regulatory gene rs780094 is a risk factor for gestational diabetes mellitus,” Gene, vol. 650, pp. 34–40, 2018, doi: 10.1016/j.gene.2018.01.091. |
[13] | Q. Qi et al., “Association of GCKR rs780094, alone or in combination with GCK rs1799884, with type 2 diabetes and related traits in a Han Chinese population,” pp. 834–843, 2009, doi: 10.1007/s00125-009-1290-2. |
[14] | H. Onuma et al., “The GCKR rs780094 polymorphism is associated with susceptibility of type 2 diabetes, reduced fasting plasma glucose levels, increased triglycerides levels and lower HOMA-IR in Japanese population,” J. Hum. Genet., no. June, pp. 600–604, 2010, doi: 10.1038/jhg.2010.75. |
[15] | “GCKR-glucokinase regulator [Homo sapiens (human)],” 2020. [Online]. Available: https://www.ncbi.nlm.nih.gov/gene/2646. Accessed: Sept-2021. |
[16] | T. Erfani, N. Sarhangi, M. Afshari, D. Abbasi, and H. Meybodi, “KCNQ1 common genetic variant and type 2 diabetes mellitus risk,” J Diabetes Metab Disord, vol. 19, no. 1, p. 47, 2020, doi: 10.1007/s40200-019-00473-4. |
[17] | K. Masao, “KCNQ1 a Susceptibility Gene for Type 2 Diabetes. Asian Association for the Study of Diabetes and Blackwell Publishing Asia Pty Ltd.,” vol. 2, no. 6, pp. 408–16, 2011. |
[18] | Y. Liu, D. Z. Zhou, D. Zhang, Z. Chen, and T. Zhao, “Variants in KCNQ1 are associated with susceptibility to type 2 diabetes in the population of mainland China,” pp. 1315–1321, 2009, doi: 10.1007/s00125-009-1375-y. |
[19] | N. Plengvidhya, C. Chanprasert, N. Chongjaroen, and P. Yenchitsomanus, “Impact of KCNQ1, CDKN2A / 2B, CDKAL1, UBE2E2 on risk of developing type 2 diabetes in Thai population,” pp. 1–9, 2018, doi: 10.1186/s12881-018-0614-9. |
[20] | Y. H. Lee, E. S. Kang, S. H. Kim, S. J. Han, C. H. Kim, and H. J. Kim, “Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population,” Hum Genet, vol. 53, no. 11–12, pp. 991–8, 2008, doi: 10.1007/s10038-008-0341-8. |
[21] | L. F. Been, S. Ralhan, G. S. Wander, N. K. Mehra, J. R. Singh, and J. J. Mulvihill, “Variants in KCNQ1 increase type II diabetes susceptibility in South Asians: A study of 3,310 subjects from India and the US,” BMC Med Genet, vol. 12, no. 1, p. 18, 2011, doi: 10.1186/1471-2350-12-18. |
[22] | A. Turki, N. Mtiraoui, A. Al-busaidi, and M. Khirallah, “Lack of association between genetic polymorphisms within KCNQ1 locus and type 2 diabetes in Tunisian Arabs,” Diabetes Res Clin Pr., vol. 98, no. 3, pp. 450–6, 2012, doi: 10.1016/j.diabres.2012.10.006. |
[23] | S. Baniasadian, S. Farajnia, B. Jafari, “Frequency of KCNQ1 variant rs2237892 in type 2 diabetes in east Azerbaijan population, northwest of Iran,” Acta Med Iran, vol. 56, no. 2, pp. 90–4, 2018. Available: https://acta.tums.ac.ir/index.php/acta/article/view/6514. [Accessed: Sept-2021]. |
[24] | M. D. Bazzi, F. A. Nasr, M. S. Alanazi, A. Alamri, A. A. Turjoman, and A. S. Moustafa, “Association between FTO, MC4R, SLC30A8, and KCNQ1 gene variants and type 2 diabetes in Saudi population,” Genet Mol Res, vol. 13, no. 4, pp. 10194–203, 2014, doi: 10.4238/2014.December.4.14. |
[25] | M. Anghebem-Oliveira et al., “The GCKR Gene Polymorphism rs780094 is a Risk Factor for Gestational Diabetes in a Brazilian Population,” J Clin Lab Anal, vol. 31, no. 2, p. 22035, 2017, doi: 10.1002/jcla.2235. |
[26] | T. Sparso, G. Andersen, T. Nielsen, and et al, “The GCKR rs780094 polymorphism is associated with elevated fasting serum triacylglycerol, reduced fasting and OGTT-related insulinaemia, and reduced risk of type 2 diabetes,” Diabetologia, vol. 51, pp. 70–75, 2008, doi: 10.1007/s00125-007-0865-z. |
[27] | C. Adhiyanto, S. Susianti, N. Rhmawati, and et al, “Screening of b-globin gene mutations in adolescent schoolgirls in rural Malang and Sukabumi City, Java Province, Indonesia. Proceedings of the 1st International Integrative Conference on Health, Life and Social Sciences (ICHLaS 2017),” Atl. Press, vol. 12, pp. 9–12, 2017, doi: 10.2991/ichlas-17.2017.47. |
[28] | S. Maeda and M. Imamura, “Genetics of Type 2 diabetes: The GWAS Era and Future Perspective,” Endocr2, vol. 58, no. 9, pp. 723–739, 2011, doi: 10.1507/endocrj. EJ11-0113. |
APA Style
Hari Hendarto, Rini Puspitaningrum, Amaliya Mata’ul Hayah, Safira Qalbissilmi, Femmy Nurul Akbar, et al. (2022). Variants and Combined Genotypes Frequencies of GCKR rs780094 and KCNQ1 rs2237892 in Type 2 Diabetes Patients in Indonesia Urban Area. American Journal of Health Research, 10(4), 169-174. https://doi.org/10.11648/j.ajhr.20221004.13
ACS Style
Hari Hendarto; Rini Puspitaningrum; Amaliya Mata’ul Hayah; Safira Qalbissilmi; Femmy Nurul Akbar, et al. Variants and Combined Genotypes Frequencies of GCKR rs780094 and KCNQ1 rs2237892 in Type 2 Diabetes Patients in Indonesia Urban Area. Am. J. Health Res. 2022, 10(4), 169-174. doi: 10.11648/j.ajhr.20221004.13
AMA Style
Hari Hendarto, Rini Puspitaningrum, Amaliya Mata’ul Hayah, Safira Qalbissilmi, Femmy Nurul Akbar, et al. Variants and Combined Genotypes Frequencies of GCKR rs780094 and KCNQ1 rs2237892 in Type 2 Diabetes Patients in Indonesia Urban Area. Am J Health Res. 2022;10(4):169-174. doi: 10.11648/j.ajhr.20221004.13
@article{10.11648/j.ajhr.20221004.13, author = {Hari Hendarto and Rini Puspitaningrum and Amaliya Mata’ul Hayah and Safira Qalbissilmi and Femmy Nurul Akbar and Chris Adhiyanto}, title = {Variants and Combined Genotypes Frequencies of GCKR rs780094 and KCNQ1 rs2237892 in Type 2 Diabetes Patients in Indonesia Urban Area}, journal = {American Journal of Health Research}, volume = {10}, number = {4}, pages = {169-174}, doi = {10.11648/j.ajhr.20221004.13}, url = {https://doi.org/10.11648/j.ajhr.20221004.13}, eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajhr.20221004.13}, abstract = {Introduction: Type 2 Diabetes (T2D) is chronic metabolic disorder that has genetic component. Single Nucleotide Polymorphism (SNP) is the variation single position in DNA sequence among individuals. Glucokinase Regulatory Protein (GCKR) and Potassium Voltage-Gated Channel Subfamily Q (KCNQ1) are SNP genes. The risk or cytosine (C) allele in gene variant GCKR rs780094 and KCNQ1 rs2237892 were associated with incidence of T2D in Asian-Caucasian populations. The aim of this study was to determine frequency of those gene variants and combined genotype in T2D patients in urban area in South Tangerang, Indonesia. Methods: Fifty-four T2D subjects were identified SNP genes using real time Polymerase Chain Reaction techniques. Results: Frequency C allele in GCKR rs780094 was 54.63% and the most common genotype was heterozygous (CT) 46.3%. Frequency of non-risk (T) allele in KCNQ1 rs223792 was 62.03% with the highest homozygous non-risk (TT) genotype 50%. The most common genotype in GCKR and KCNQ1 control group were CT 55%. The highest frequency of combined genotype was CT/TT 25.92%. Conclusion: Gene variant GCKR rs 780094 had more risk allele (C) in T2D patients in urban area in South Tangerang, Indonesia with the most common genotype CT while KCNQ1 rs2237892 had more non-risk alleles (T) with most common genotype TT. The most abundant genotype for GCKR rs780094 and KCNQ1 rs2237892 in control group were CT and the highest frequency of combined genotype was CT/TT.}, year = {2022} }
TY - JOUR T1 - Variants and Combined Genotypes Frequencies of GCKR rs780094 and KCNQ1 rs2237892 in Type 2 Diabetes Patients in Indonesia Urban Area AU - Hari Hendarto AU - Rini Puspitaningrum AU - Amaliya Mata’ul Hayah AU - Safira Qalbissilmi AU - Femmy Nurul Akbar AU - Chris Adhiyanto Y1 - 2022/08/17 PY - 2022 N1 - https://doi.org/10.11648/j.ajhr.20221004.13 DO - 10.11648/j.ajhr.20221004.13 T2 - American Journal of Health Research JF - American Journal of Health Research JO - American Journal of Health Research SP - 169 EP - 174 PB - Science Publishing Group SN - 2330-8796 UR - https://doi.org/10.11648/j.ajhr.20221004.13 AB - Introduction: Type 2 Diabetes (T2D) is chronic metabolic disorder that has genetic component. Single Nucleotide Polymorphism (SNP) is the variation single position in DNA sequence among individuals. Glucokinase Regulatory Protein (GCKR) and Potassium Voltage-Gated Channel Subfamily Q (KCNQ1) are SNP genes. The risk or cytosine (C) allele in gene variant GCKR rs780094 and KCNQ1 rs2237892 were associated with incidence of T2D in Asian-Caucasian populations. The aim of this study was to determine frequency of those gene variants and combined genotype in T2D patients in urban area in South Tangerang, Indonesia. Methods: Fifty-four T2D subjects were identified SNP genes using real time Polymerase Chain Reaction techniques. Results: Frequency C allele in GCKR rs780094 was 54.63% and the most common genotype was heterozygous (CT) 46.3%. Frequency of non-risk (T) allele in KCNQ1 rs223792 was 62.03% with the highest homozygous non-risk (TT) genotype 50%. The most common genotype in GCKR and KCNQ1 control group were CT 55%. The highest frequency of combined genotype was CT/TT 25.92%. Conclusion: Gene variant GCKR rs 780094 had more risk allele (C) in T2D patients in urban area in South Tangerang, Indonesia with the most common genotype CT while KCNQ1 rs2237892 had more non-risk alleles (T) with most common genotype TT. The most abundant genotype for GCKR rs780094 and KCNQ1 rs2237892 in control group were CT and the highest frequency of combined genotype was CT/TT. VL - 10 IS - 4 ER -