Genetic association study of common mitochondrial variants on body fat mass.
Genetic association study of common mitochondrial variants on body fat mass.
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常见线粒体变异与体脂肪量的遗传关联研究
DOI：
10.1371/journal.pone.0021595
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发表时间：
2011
期刊：
影响因子：
3.7
通讯作者：
Deng HW
中科院分区：
文献类型：
--
作者：
Yang TL;Guo Y;Shen H;Lei SF;Liu YJ;Li J;Liu YZ;Yu N;Chen J;Xu T;Cheng Y;Tian Q;Yu P;Papasian CJ;Deng HW
线粒体在ATP产生和能量代谢中起着核心作用。以前的研究表明，mtDNA的常见变异与几种常见的复杂疾病有关，包括肥胖症。为了验证常见mtDNA变异影响肥胖相关表型（包括BMI和体脂量）的假设，我们在2，286名无关高加索受试者的大样本中对整个线粒体基因组中的445个mtSNP进行了基因分型。这445个mtSNP中的72个通过了质量控制标准，并用于随后的分析。我们还将所有受试者分为9个常见的欧洲单倍型群。对BMI和体脂量与单个mtSNPs和mtDNA单倍型群进行关联分析。检测到两个mtSNPs，mt4823和mt 8873与体脂量显著相关，校正P值分别为4.94×10-3和4.58×10-2。次要等位基因mt4823 C和mt 8873 A与脂肪量值降低相关，效应量（β）估计分别为3.52和3.18。这两个mtSNP也达到了与BMI相关的名义上显著水平。对于单倍群分析，我们发现单倍群X与BMI（校正P = 8.31×10-3）和体脂量（校正P = 5.67×10-4）密切相关。被归类为单倍群X的受试者的BMI和体脂量值较低，β估计值分别为2.86和6.03。 我们的研究结果表明，线粒体的常见变异可能在体脂量的变化中发挥作用。需要进一步的分子和功能研究来阐明潜在的机制。
Mitochondria play a central role in ATP production and energy metabolism. Previous studies suggest that common variants in mtDNA are associated with several common complex diseases, including obesity. To test the hypothesis that common mtDNA variants influence obesity-related phenotypes, including BMI and body fat mass, we genotyped a total of 445 mtSNPs across the whole mitochondrial genome in a large sample of 2,286 unrelated Caucasian subjects. 72 of these 445 mtSNPs passed quality control criteria, and were used for subsequent analyses. We also classified all subjects into nine common European haplogroups. Association analyses were conducted for both BMI and body fat mass with single mtSNPs and mtDNA haplogroups. Two mtSNPs, mt4823 and mt8873 were detected to be significantly associated with body fat mass, with adjusted P values of 4.94×10-3 and 4.58×10-2, respectively. The minor alleles mt4823 C and mt8873 A were associated with reduced fat mass values and the effect size (β) was estimated to be 3.52 and 3.18, respectively. These two mtSNPs also achieved nominally significant levels for association with BMI. For haplogroup analyses, we found that haplogroup X was strongly associated with both BMI (adjusted P = 8.31×10-3) and body fat mass (adjusted P = 5.67×10-4) Subjects classified as haplogroup X had lower BMI and fat mass values, with the β estimated to be 2.86 and 6.03, respectively. Our findings suggest that common variants in mitochondria might play a role in variations of body fat mass. Further molecular and functional studies will be needed to clarify the potential mechanism.
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影响因子：
3.5
作者：
Liu, Yong-Jun;Liu, Xiao-Gang;Deng, Hong-Wen
通讯作者：
Deng, Hong-Wen
DOI：
10.1111/j.2517-6161.1995.tb02031.x
发表时间：
1995-01-01
影响因子：
5.8
作者：
BENJAMINI, Y;HOCHBERG, Y
通讯作者：
HOCHBERG, Y
影响因子：
9.8
作者：
Deng, HW;Deng, HY;Recker, RR
通讯作者：
Recker, RR
影响因子：
9.8
作者：
van der Walt, JM;Nicodemus, KK;Vance, JM
通讯作者：
Vance, JM
影响因子：
3.5
作者：
Poulton, J;Luan, J;Wareham, NJ
通讯作者：
Wareham, NJ