Syed Ali Shah Bukhari, Muhammad Shahid, Saad Farooq, Muhammad Irfan, Muhammad Shakeel, Ishtiaq Ahmad Khan
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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.</p><p><strong>Methodology: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p><p><strong>Key words: </strong>Diabetes Mellitus, HVS-1 region, Diabetic subjects, Mitochondrial genomics, Pakistani population.</p>","PeriodicalId":54905,"journal":{"name":"Jcpsp-Journal of the College of Physicians and Surgeons Pakistan","volume":"33 7","pages":"748-753"},"PeriodicalIF":0.7000,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Association of Mitochondrial HVS-I Region Variants with Type 2 Diabetes in Pakistani Diabetic Subjects.\",\"authors\":\"Syed Ali Shah Bukhari, Muhammad Shahid, Saad Farooq, Muhammad Irfan, Muhammad Shakeel, Ishtiaq Ahmad Khan\",\"doi\":\"10.29271/jcpsp.2023.07.748\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>To analyse mitochondrial hypervariable segment I (HVS-I) variations in Pakistani type 2 diabetic subjects.</p><p><strong>Study design: </strong>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.</p><p><strong>Methodology: </strong>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.</p><p><strong>Results: </strong>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. 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引用次数: 0
摘要
目的:分析巴基斯坦2型糖尿病患者线粒体高变段I (HVS-I)的变异。研究设计:病例对照研究。研究地点和时间:巴基斯坦卡拉奇陶氏健康科学大学国家糖尿病和内分泌研究所，2019年1月至2021年1月。方法:分离全血DNA，对92例个体(包括47例对照和45例糖尿病患者)的线粒体HVS-I区(16024-16370)进行扩增、测序和分析。结果:在测序区域中鉴定出92个可变位点，根据系统树17.0分类将个体划分为56个不同的单倍型，其中M5主要单倍型在糖尿病中高出近2倍。Fischer精确检验显示，与对照组相比，变异16189T>C与糖尿病显著相关(优势比= 12.9,95% CI = 0.6917 - 2400248)。作者进一步分析了巴基斯坦对照受试者(即PJL, n=96)的1000基因组计划数据，发现除了16189T>C(优势比= 5.875,95% CI = 1.093 ~ 31.57, p T(优势比= 16,95% CI = 0.8026 ~ 314.7, p)外，线粒体高变段I (HVS-I)区域的特异性变异与巴基斯坦人群的2型糖尿病显著相关。主要单倍型M5在糖尿病患者中较高，变异16189T>C和16264C>T与糖尿病显著相关。这些发现表明，线粒体DNA变异可能在巴基斯坦人群中2型糖尿病的发展中发挥作用。关键词:糖尿病，HVS-1区，糖尿病受试者，线粒体基因组学，巴基斯坦人群
Association of Mitochondrial HVS-I Region Variants with Type 2 Diabetes in Pakistani Diabetic Subjects.
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.
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