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T16189C mitochondrial DNA variant is associated with metabolic syndrome in Caucasian subjects.

机译:T16189C线粒体DNA变体与白种人科目中的代谢综合征有关。

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OBJECTIVES: Different nuclear genes are thought to be involved in the regulation of the complex phenotype of metabolic syndrome (MS) and their number is increasing. A mutation in mitochondrial DNA (mtDNA), T4291C in transfer RNA isoleucine (tRNAile), has been associated with MS in a large American family. In addition, a mtDNA T16189C variant, already known to be associated with insulin resistance and type 2 diabetes mellitus in Caucasians, seems to underlie susceptibility to MS in the Chinese population. Our aim was to verify the T4291C and T16189C variants in subjects affected by different phenotypes of MS. METHODS: Seventy patients with MS and 35 healthy individuals were investigated for the presence of the mtDNA variants by polymerase chain reaction-restriction fragment length polymorphism analysis. RESULTS: The T4291C variant was absent in patients and in controls. The T16189C variant was more frequent in patients with MS than in control subjects (21.4% versus 5.7%, P<0.04) and was associated with hypertension (P=0.01), waist circumference (P=0.02), body mass index (P=0.009), visceral fat thickness (P=0.04), homeostasis model assessment (P=0.03), and the number of MS diagnostic criteria (P=0.01). CONCLUSION: The mtDNA T16189C variant is associated with MS and its different clinical expressions. Prospective studies are warranted to establish the clinical relevance of this association.
机译:目的:认为不同的核基因涉及调节代谢综合征(MS)的复杂表型,它们的数量正在增加。线粒体DNA(MTDNA),T4291C在转移RNA异亮氨酸(TRNAILE)中的突变与大型美国家庭中的MS相关。此外,已知具有胰岛素抵抗和2型糖尿病在高加索人中的MTDNA T16189C变体似乎对中国人群中MS的易感性提高了弱势。我们的目的是验证受MS不同表型影响的受试者的T4291C和T16189C变体。方法:通过聚合酶链反应限制片段长度多态性分析研究了七十个患有MS和35名健康个体的患者,用于存在MTDNA变体。结果:患者和对照中不存在T4291C变体。 MS的患者比对照对象更频繁频繁(21.4%对5.7%,P <0.04),并且与高血压有关(P = 0.01),腰围(P = 0.02),体重指数(P = 0.009),内脏脂肪厚度(P = 0.04),稳态模型评估(P = 0.03),以及MS诊断标准的数量(P = 0.01)。结论:MTDNA T16189C变体与MS及其不同的临床表达相关。有必要预期研究建立本协会的临床相关性。

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