Syed Ali Shah Bukhari, Muhammad Shahid, Saad Farooq, Muhammad Irfan, Muhammad Shakeel, Ishtiaq Ahmad Khan
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引用次数: 0
Abstract
Objective: To analyse mitochondrial hypervariable segment I (HVS-I) variations in Pakistani type 2 diabetic subjects.
Study design: Case-control study. Place and Duration of the Study: National Institute of Diabetes and Endocrinology, Dow University of Health Sciences, Karachi, Pakistan, between January 2019 to January 2021.
Methodology: DNA from whole blood was isolated, and mitochondrial HVS-I region (16024-16370) of 92 individuals, including 47 controls and 45 diabetics, was amplified, sequenced, and analysed.
Results: Ninety-two variable sites in the sequenced region were identified and individuals were classified into 56 different haplotypes according to phylotree 17.0 classifications, where major haplotype M5 was nearly 2-fold higher in diabetes. Fischer's exact test revealed variant 16189T>C significantly associated with diabetes (Odds ratio = 12.9, 95% CI = 0.6917 - 2400248) as compared to controls. The authors further analysed 1000 Genomes Project data of Pakistani Control subjects (i.e. PJL, n=96) and found that besides 16189T>C (Odds ratio = 5.875, 95% CI = 1.093 - 31.57, p <0.0339), 16264C>T (Odds ratio = 16, 95% CI = 0.8026 - 314.7, p <0.0310) also showed significant association with diabetic subjects. Comparing diabetic subject data with global control population data of the 1000 Genomes Project, significant associations of eight variants in the studied region were found.
Conclusion: Based on the results of this case-control study, it can be concluded that specific variations in the mitochondrial hypervariable segment I (HVS-I) region are significantly associated with type 2 diabetes in the Pakistani population. The major haplotype M5 was found to be higher in diabetic subjects and variants 16189T>C and 16264C>T were significantly associated with diabetes. These findings suggest that mitochondrial DNA variations may play a role in the development of type 2 diabetes in the Pakistani population.
期刊介绍:
Journal of College of Physicians and Surgeons Pakistan (JCPSP), is the prestigious, peer reviewed monthly biomedical journal of the country published regularly since 1991.
Established with the primary aim of promotion and dissemination of medical research and contributed by scholars of biomedical sciences from Pakistan and abroad, it carries original research papers, , case reports, review articles, articles on medical education, commentaries, short communication, new technology, editorials and letters to the editor. It covers the core biomedical health science subjects, basic medical sciences and emerging community problems, prepared in accordance with the “Uniform requirements for submission to bio-medical journals” laid down by International Committee of Medical Journals Editors (ICMJE). All publications of JCPSP are peer reviewed by subject specialists from Pakistan and locally and abroad.