摘要
线粒体DNA突变16189T→C对2型糖尿病患者的影响是过去十年间的研究热点问题。如果确实突变16189T→C增加了患2型糖尿病的风险,如最近一些研究表明的那样,这个突变与疾病之间的关系应当是在收集国内一个大范围的地理区域的数据和样本进行系统的研究分析后给出。为了验证这个假设,我们首先对10个东亚地区的人口中2型糖尿病的流行性与16189C突变的等位基因频率,及两个病例组--对照组中这个突变的基因型(昆明和西宁的汉族中国人)做了一个线性分析。线性分析表明突变与患病率间没有相关性(r2=0.211, P=0.181),并且基因型的结果也显示16189T→C的突变频率在不同人群的病例和对照组中没有有显著差异(昆明和西宁分别是P=0.38 和 0.89 )。相同的母系遗传(就单倍群而言)产生相同的单倍群分布在不同人口中((P>0.1))。所有的结果未能表明突变16189T→C可能是东亚人口发展成2型糖尿病的一个关键因素。
关键词: 单倍群,线粒体DNA
Current Molecular Medicine
Title:Reappraising the Relationship Between Mitochondrial DNA Variant m.16189T>C and Type 2 Diabetes Mellitus in East Asian Populations
Volume: 14 Issue: 10
Author(s): L. Zhong, J. Tang, Q.-P. Kong, C. Sun, W.-P. Zhou, M. Yang, Y.-G. Yao and Y.-P. Zhang
Affiliation:
关键词: 单倍群,线粒体DNA
摘要: The role of mitochondrial DNA (mtDNA) variant 16189T>C in type 2 diabetes mellitus (T2DM) remains hotly debated in the past decade. If mutation 16189T>C indeed posed a risk to T2DM, as echoed by some recent studies, correlation between this mutation and disease should be observed when carrying out a systematical study using data and samples collected in a large geographic region in China. To test this hypothesis, we first performed a linear regression analysis between the prevalence of T2DM and the allele frequency of 16189C variant in 10 East Asian populations, and further genotyped this variant in two casecontrol cohorts from west Han Chinese (Kunming and Xining). Linear regression analysis showed that no significant correlation was observed (r2=0.211, P=0.181), and the genotyping results indicated that the m.16189T>C frequency difference between case and control was not significant in either populations (P=0.38 and 0.89 for Kunming and Xining, respectively). Matrilineal backgrounds constitution (in terms of haplogroups) analysis generated a similar haplogroup distribution in both populations (P>0.1). All results failed to substantiate that m.16189T>C may play an active role in the development of T2DM in East Asian populations.
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Cite this article as:
L. Zhong, J. Tang, Q.-P. Kong, C. Sun, W.-P. Zhou, M. Yang, Y.-G. Yao and Y.-P. Zhang , Reappraising the Relationship Between Mitochondrial DNA Variant m.16189T>C and Type 2 Diabetes Mellitus in East Asian Populations, Current Molecular Medicine 2014; 14 (10) . https://dx.doi.org/10.2174/1566524014666141202161326
DOI https://dx.doi.org/10.2174/1566524014666141202161326 |
Print ISSN 1566-5240 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5666 |
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