线粒体单倍群T与奥地利青少年及成年人的肥胖相关。
Mitochondrial Haplogroup T Is Associated with Obesity in Austrian Juveniles and Adults.
作者信息
Ebner Sabine, Mangge Harald, Langhof Helmut, Halle Martin, Siegrist Monika, Aigner Elmar, Paulmichl Katharina, Paulweber Bernhard, Datz Christian, Sperl Wolfgang, Kofler Barbara, Weghuber Daniel
机构信息
Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.
Clinical Institute for Medical and Chemical Laboratory Diagnostics, Medical University Graz, Graz, Austria; BioTechMed-Graz, Graz, Austria.
出版信息
PLoS One. 2015 Aug 31;10(8):e0135622. doi: 10.1371/journal.pone.0135622. eCollection 2015.
BACKGROUND
Recent publications have reported contradictory data regarding mitochondrial DNA (mtDNA) variation and its association with body mass index. The aim of the present study was to compare the frequencies of mtDNA haplogroups as well as control region (CR) polymorphisms of obese juveniles (n = 248) and obese adults (n = 1003) versus normal weight controls (njuvenile = 266, nadults = 595) in a well-defined, ethnically homogenous, age-matched comparative cohort of Austrian Caucasians.
METHODOLOGY AND PRINCIPAL FINDINGS
Using SNP analysis and DNA sequencing, we identified the nine major European mitochondrial haplogroups and CR polymorphisms. Of these, only the T haplogroup frequency was increased in the juvenile obese cohort versus the control subjects [11.7% in obese vs. 6.4% in controls], although statistical significance was lost after adjustment for sex and age. Similar data were observed in a local adult cohort, in which haplogroup T was found at a significantly higher frequency in the overweight and obese subjects than in the normal weight group [9.7% vs. 6.2%, p = 0.012, adjusted for sex and age]. When all obese subjects were considered together, the difference in the frequency of haplogroup T was even more clearly seen [10.1% vs. 6.3%, p = 0.002, OR (95% CI) 1.71 (1.2-2.4), adjusted for sex and age]. The frequencies of the T haplogroup-linked CR polymorphisms C16294T and the C16296T were found to be elevated in both the juvenile and the adult obese cohort compared to the controls. Nevertheless, no mtDNA haplogroup or CR polymorphism was robustly associated with any of several investigated metabolic and cardiovascular parameters (e.g., blood pressure, blood glucose concentration, triglycerides, cholesterol) in all obese subjects.
CONCLUSIONS AND SIGNIFICANCE
By investigation of this large ethnically and geographically homogenous cohort of Middle European Caucasians, only mtDNA haplogroup T was identified as an obesity risk factor.
背景
近期的出版物报道了关于线粒体DNA（mtDNA）变异及其与体重指数关联的相互矛盾的数据。本研究的目的是在一个明确界定的、种族同质、年龄匹配的奥地利白种人比较队列中，比较肥胖青少年（n = 248）和肥胖成年人（n = 1003）与正常体重对照组（青少年n = 266，成年人n = 595）的mtDNA单倍群频率以及控制区（CR）多态性。
方法和主要发现
使用单核苷酸多态性（SNP）分析和DNA测序，我们确定了九个主要的欧洲线粒体单倍群和CR多态性。其中，与对照组相比，仅青少年肥胖队列中的T单倍群频率升高[肥胖组为11.7%，对照组为6.4%]，尽管在对性别和年龄进行调整后失去了统计学意义。在一个当地的成年队列中观察到了类似的数据，其中超重和肥胖受试者中T单倍群的频率显著高于正常体重组[9.7%对6.2%，p = 0.012，经性别和年龄调整]。当将所有肥胖受试者一起考虑时，T单倍群频率的差异更加明显[10.1%对6.3%，p = 图002，比值比（95%可信区间）1.71（1.2 - 2.4），经性别和年龄调整]。与对照组相比，发现T单倍群相关的CR多态性C16294T和C16296T在青少年和成年肥胖队列中的频率均升高。然而，在所有肥胖受试者中，没有mtDNA单倍群或CR多态性与所研究的几种代谢和心血管参数（如血压、血糖浓度、甘油三酯、胆固醇）中的任何一种有强烈关联。
结论和意义
通过对这个种族和地理上同质的中欧白种人大队列的研究，仅mtDNA单倍群T被确定为肥胖风险因素。
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