Association of mitochondrial copy number variation and T16189C polymorphism with colorectal cancer in North Indian population
Globally, colorectal cancer is the third most common type of cancer. Genetic instability leading to cancer development is one of the major causes for development of cancer. Alterations in mitochondrial genome, that is, mutations, single-nucleotide polymorphisms, and copy number variations are known...
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| Format: | Article |
| Language: | English |
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SAGE Publishing
2017-11-01
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| Series: | Tumor Biology |
| Online Access: | https://doi.org/10.1177/1010428317740296 |
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| author | Bhupender Kumar Zafar Iqbal Bhat Savita Bansal Sunil Saini Afreen Naseem Khushnuma Wahabi Archana Burman Geeta Trilok Kumar Sundeep Singh Saluja M Moshahid Alam Rizvi |
| author_facet | Bhupender Kumar Zafar Iqbal Bhat Savita Bansal Sunil Saini Afreen Naseem Khushnuma Wahabi Archana Burman Geeta Trilok Kumar Sundeep Singh Saluja M Moshahid Alam Rizvi |
| author_sort | Bhupender Kumar |
| collection | DOAJ |
| description | Globally, colorectal cancer is the third most common type of cancer. Genetic instability leading to cancer development is one of the major causes for development of cancer. Alterations in mitochondrial genome, that is, mutations, single-nucleotide polymorphisms, and copy number variations are known to contribute in cancer development. The aim of our study was to investigate association of mitochondrial T16189C polymorphism and copy number variation with colorectal cancer in North Indian population. DNA isolated from peripheral blood of 126 colorectal cancer patients and 114 healthy North Indian subjects was analyzed for T16189C polymorphism and half of them for mitochondrial copy number variation. Genotyping was done using polymerase chain reaction–restriction fragment length polymorphism, and copy number variation was estimated using real-time polymerase chain reaction, numbers of mitochondrial copies and found to be significantly higher in colorectal cancer patients than healthy controls (88 (58–154), p = 0.001). In the regression analysis, increased mitochondrial copy number variation was associated with risk of colorectal cancer (odds ratio = 2.885, 95% confidence interval = 1.3–6.358). However, T16189C polymorphism was found to be significantly associated with the risk of rectal cancer (odds ratio = 5.213, p = 0.001) and non-significantly with colon cancer (odds ratio = 0.867, p = 0.791). Also, false-positive report probability analysis was done to validate the significant findings. Our results here indicate that mitochondrial copy number variation may be playing an important role in the development of colorectal cancer, and detection of mitochondrial copy number variation can be used as a biomarker for predicting the risk of colorectal cancer in North Indian subjects. |
| format | Article |
| id | doaj-art-b56dc0d762d846c088b2a2b21e82d0d9 |
| institution | Kabale University |
| issn | 1423-0380 |
| language | English |
| publishDate | 2017-11-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | Tumor Biology |
| spelling | doaj-art-b56dc0d762d846c088b2a2b21e82d0d92025-08-20T03:58:50ZengSAGE PublishingTumor Biology1423-03802017-11-013910.1177/1010428317740296Association of mitochondrial copy number variation and T16189C polymorphism with colorectal cancer in North Indian populationBhupender Kumar0Zafar Iqbal Bhat1Savita Bansal2Sunil Saini3Afreen Naseem4Khushnuma Wahabi5Archana Burman6Geeta Trilok Kumar7Sundeep Singh Saluja8M Moshahid Alam Rizvi9Department of Biochemistry, Institute of Home Economics, University of Delhi, New Delhi, IndiaGenome Biology Laboratory, Department of Biosciences, Jamia Millia Islamia, New Delhi, IndiaDepartment of Biochemistry, Institute of Home Economics, University of Delhi, New Delhi, IndiaSchool of Life Sciences, Jawaharlal Nehru University, New Delhi, IndiaGenome Biology Laboratory, Department of Biosciences, Jamia Millia Islamia, New Delhi, IndiaGenome Biology Laboratory, Department of Biosciences, Jamia Millia Islamia, New Delhi, IndiaDepartment of Biochemistry, Institute of Home Economics, University of Delhi, New Delhi, IndiaDepartment of Biochemistry, Institute of Home Economics, University of Delhi, New Delhi, IndiaDepartment of Gastrointestinal Surgery, Govind Ballabh Pant Hospital and Maulana Azad Medical College, New Delhi, IndiaGenome Biology Laboratory, Department of Biosciences, Jamia Millia Islamia, New Delhi, IndiaGlobally, colorectal cancer is the third most common type of cancer. Genetic instability leading to cancer development is one of the major causes for development of cancer. Alterations in mitochondrial genome, that is, mutations, single-nucleotide polymorphisms, and copy number variations are known to contribute in cancer development. The aim of our study was to investigate association of mitochondrial T16189C polymorphism and copy number variation with colorectal cancer in North Indian population. DNA isolated from peripheral blood of 126 colorectal cancer patients and 114 healthy North Indian subjects was analyzed for T16189C polymorphism and half of them for mitochondrial copy number variation. Genotyping was done using polymerase chain reaction–restriction fragment length polymorphism, and copy number variation was estimated using real-time polymerase chain reaction, numbers of mitochondrial copies and found to be significantly higher in colorectal cancer patients than healthy controls (88 (58–154), p = 0.001). In the regression analysis, increased mitochondrial copy number variation was associated with risk of colorectal cancer (odds ratio = 2.885, 95% confidence interval = 1.3–6.358). However, T16189C polymorphism was found to be significantly associated with the risk of rectal cancer (odds ratio = 5.213, p = 0.001) and non-significantly with colon cancer (odds ratio = 0.867, p = 0.791). Also, false-positive report probability analysis was done to validate the significant findings. Our results here indicate that mitochondrial copy number variation may be playing an important role in the development of colorectal cancer, and detection of mitochondrial copy number variation can be used as a biomarker for predicting the risk of colorectal cancer in North Indian subjects.https://doi.org/10.1177/1010428317740296 |
| spellingShingle | Bhupender Kumar Zafar Iqbal Bhat Savita Bansal Sunil Saini Afreen Naseem Khushnuma Wahabi Archana Burman Geeta Trilok Kumar Sundeep Singh Saluja M Moshahid Alam Rizvi Association of mitochondrial copy number variation and T16189C polymorphism with colorectal cancer in North Indian population Tumor Biology |
| title | Association of mitochondrial copy number variation and T16189C polymorphism with colorectal cancer in North Indian population |
| title_full | Association of mitochondrial copy number variation and T16189C polymorphism with colorectal cancer in North Indian population |
| title_fullStr | Association of mitochondrial copy number variation and T16189C polymorphism with colorectal cancer in North Indian population |
| title_full_unstemmed | Association of mitochondrial copy number variation and T16189C polymorphism with colorectal cancer in North Indian population |
| title_short | Association of mitochondrial copy number variation and T16189C polymorphism with colorectal cancer in North Indian population |
| title_sort | association of mitochondrial copy number variation and t16189c polymorphism with colorectal cancer in north indian population |
| url | https://doi.org/10.1177/1010428317740296 |
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