Mutational Analysis of KCNQ1 Gene in Type 2 Diabetes Mellitus: A Case-control Study
Introduction: KCNQ1 (Potassium voltage-gated channel subfamily Q member 1) gene encodes for pore-forming subunit of a voltage-gated K+ channel that is essential for the depolarisation phase of the action potential in cardiac muscle. KCNQ1 is also associated with impaired insulin secretion in Type 2...
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JCDR Research and Publications Private Limited
2025-01-01
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| Series: | Journal of Clinical and Diagnostic Research |
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| Online Access: | https://www.jcdr.net/articles/PDF/20531/75978_CE(Ra1)_F(Sh_SHU)_QC(SD_OM)_PF1(AG_SS)_PFA(OM)_PB(AG_IS)_PN(IS).pdf |
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| author | Ankush Ganjewar Ishwar B Bagoji Sharan Badiger Rudragouda B Bulagouda Gurushnatappa Kadakol |
| author_facet | Ankush Ganjewar Ishwar B Bagoji Sharan Badiger Rudragouda B Bulagouda Gurushnatappa Kadakol |
| author_sort | Ankush Ganjewar |
| collection | DOAJ |
| description | Introduction: KCNQ1 (Potassium voltage-gated channel subfamily Q member 1) gene encodes for pore-forming subunit of a voltage-gated K+ channel that is essential for the depolarisation phase of the action potential in cardiac muscle. KCNQ1 is also associated with impaired insulin secretion in Type 2 Diabetes Mellitus (T2DM), suggesting that this impairment might underlie the diabetes susceptibility conferred by rs151290, which is associated with 30-min C-peptide levels during an Oral Glucose Tolerance Test (OGTT) and first-phase insulin secretion. Variants rs2237892, rs2237895 and rs2237897 have been associated with OGTT-derived insulin secretion indexes. The risk associated with KCNQ1 may increase the expression of KCNQ1 in pancreatic β cells, promoting the development of T2DM.
Aim: To know the association of KCNQ1 gene common variant rs2237895 risk factor for T2DM.
Materials and Methods: The present case-control study was conducted at the Department of General Medicine and Genetics Laboratory of the Anatomy Department at BLDE (Deemed to be University) Shri BM Patil Medical College Hospital and Research Centre in Vijayapura, Karnataka, India. The duration of present study was from March 2023 to December 2023. A total of 30 peripheral blood samples were collected from the T2DM and 30 samples of healthy controls, and then subjected to genetic analysis. Amplification of DNA products were analysed using Sanger-based DNA sequencing.
Results: Sequencing analysis revealed g.6956 C>T and c.C1956T mutations in seven patients. Out of these, three were in homozygous condition and four were in heterozygous condition. All these mutations were observed in 3’ untranslated region and exhibited a benign phenotype.
Conclusion: KCNQ1 gene is not associated with Type 2 DM. To establish a definitive association between the KCNQ1 gene and T2DM, further screening in larger population is necessary. |
| format | Article |
| id | doaj-art-5a467374d65b4a9e96a11312f3010d6e |
| institution | Kabale University |
| issn | 2249-782X 0973-709X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | JCDR Research and Publications Private Limited |
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| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj-art-5a467374d65b4a9e96a11312f3010d6e2025-01-24T12:29:16ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2025-01-011901010410.7860/JCDR/2025/75978.20531Mutational Analysis of KCNQ1 Gene in Type 2 Diabetes Mellitus: A Case-control StudyAnkush Ganjewar0Ishwar B Bagoji1Sharan Badiger2Rudragouda B Bulagouda3Gurushnatappa Kadakol4Scholar, Department of Anatomy, BLDE (DU) Shri B M Patil Medical College, Vijayapura, Karnataka, India.Associate Professor, Department of Anatomy, BLDE (DU) Shri B M Patil Medical College, Vijayapura, Karnataka, India.Professor, Department of Medicine, BLDE (DU) Shri B M Patil Medical College, Vijayapura, Karnataka, India.Professor, Department of Anatomy, BLDE (DU) Shri B M Patil Medical College, Vijayapura, Karnataka, India.Assistant Professor, Genetics Laboratory, School of Applied Science and Technology, BLDE (DU) Shri B M Patil Medical College, Vijayapura, Karnataka, India.Introduction: KCNQ1 (Potassium voltage-gated channel subfamily Q member 1) gene encodes for pore-forming subunit of a voltage-gated K+ channel that is essential for the depolarisation phase of the action potential in cardiac muscle. KCNQ1 is also associated with impaired insulin secretion in Type 2 Diabetes Mellitus (T2DM), suggesting that this impairment might underlie the diabetes susceptibility conferred by rs151290, which is associated with 30-min C-peptide levels during an Oral Glucose Tolerance Test (OGTT) and first-phase insulin secretion. Variants rs2237892, rs2237895 and rs2237897 have been associated with OGTT-derived insulin secretion indexes. The risk associated with KCNQ1 may increase the expression of KCNQ1 in pancreatic β cells, promoting the development of T2DM. Aim: To know the association of KCNQ1 gene common variant rs2237895 risk factor for T2DM. Materials and Methods: The present case-control study was conducted at the Department of General Medicine and Genetics Laboratory of the Anatomy Department at BLDE (Deemed to be University) Shri BM Patil Medical College Hospital and Research Centre in Vijayapura, Karnataka, India. The duration of present study was from March 2023 to December 2023. A total of 30 peripheral blood samples were collected from the T2DM and 30 samples of healthy controls, and then subjected to genetic analysis. Amplification of DNA products were analysed using Sanger-based DNA sequencing. Results: Sequencing analysis revealed g.6956 C>T and c.C1956T mutations in seven patients. Out of these, three were in homozygous condition and four were in heterozygous condition. All these mutations were observed in 3’ untranslated region and exhibited a benign phenotype. Conclusion: KCNQ1 gene is not associated with Type 2 DM. To establish a definitive association between the KCNQ1 gene and T2DM, further screening in larger population is necessary.https://www.jcdr.net/articles/PDF/20531/75978_CE(Ra1)_F(Sh_SHU)_QC(SD_OM)_PF1(AG_SS)_PFA(OM)_PB(AG_IS)_PN(IS).pdfkcnq1 rs2237895polymerase chain reactionsanger sequencing |
| spellingShingle | Ankush Ganjewar Ishwar B Bagoji Sharan Badiger Rudragouda B Bulagouda Gurushnatappa Kadakol Mutational Analysis of KCNQ1 Gene in Type 2 Diabetes Mellitus: A Case-control Study Journal of Clinical and Diagnostic Research kcnq1 rs2237895 polymerase chain reaction sanger sequencing |
| title | Mutational Analysis of KCNQ1 Gene in Type 2 Diabetes Mellitus: A Case-control Study |
| title_full | Mutational Analysis of KCNQ1 Gene in Type 2 Diabetes Mellitus: A Case-control Study |
| title_fullStr | Mutational Analysis of KCNQ1 Gene in Type 2 Diabetes Mellitus: A Case-control Study |
| title_full_unstemmed | Mutational Analysis of KCNQ1 Gene in Type 2 Diabetes Mellitus: A Case-control Study |
| title_short | Mutational Analysis of KCNQ1 Gene in Type 2 Diabetes Mellitus: A Case-control Study |
| title_sort | mutational analysis of kcnq1 gene in type 2 diabetes mellitus a case control study |
| topic | kcnq1 rs2237895 polymerase chain reaction sanger sequencing |
| url | https://www.jcdr.net/articles/PDF/20531/75978_CE(Ra1)_F(Sh_SHU)_QC(SD_OM)_PF1(AG_SS)_PFA(OM)_PB(AG_IS)_PN(IS).pdf |
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