No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls.
No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls.
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DOI：
10.1136/annrheumdis-2012-201932
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发表时间：
2013-01
影响因子：
27.4
通讯作者：
arcOGEN Consortium
中科院分区：
文献类型：
--
作者：
Hudson G;Panoutsopoulou K;Wilson I;Southam L;Rayner NW;Arden N;Birrell F;Carluke I;Carr A;Chapman K;Deloukas P;Doherty M;McCaskie A;Ollier WE;Ralston SH;Reed MR;Spector TD;Valdes AM;Wallis GA;Wilkinson JM;Zeggini E;Samuels DC;Loughlin J;Chinnery PF;arcOGEN Consortium
骨关节炎 (OA) 的病因复杂，具有很强的遗传因素。全基因组关联研究表明，几个核基因与病因有关，但遗传性的主要组成部分尚未在分子水平上得到定义。初步研究表明，根据性别和特定关节受累情况，骨关节炎患者亚组中存在母系遗传的线粒体 DNA (mtDNA) 变异，但这些发现尚未得到重复。作者研究了在一项两队列遗传关联研究中对 138 个母系遗传 mtDNA 变异进行了基因分型，涉及 arcOGEN 联盟的总共 7393 例 OA 病例和在 Wellcome Trust 病例对照联盟 2 研究中进行基因分型的 5122 例对照。经过数据质量控制，我们检查了队列 1 和队列 2 中常见的 48 个 mtDNA 变异，发现与 OA 没有关联。先前与 mtDNA 单倍群相关的表型亚群在本研究中均不相关。我们无法复制之前在迄今为止最大的线粒体 DNA 关联研究中发表的研究结果。目前将 OA 与 mtDNA 联系起来的证据并不令人信服。
Osteoarthritis (OA) has a complex aetiology with a strong genetic component. Genome-wide association studies implicate several nuclear genes in the aetiology, but a major component of the heritability has yet to be defined at the molecular level. Initial studies implicate maternally inherited variants of mitochondrial DNA (mtDNA) in subgroups of patients with OA based on gender and specific joint involvement, but these findings have not been replicated. The authors studied 138 maternally inherited mtDNA variants genotyped in a two cohort genetic association study across a total of 7393 OA cases from the arcOGEN consortium and 5122 controls genotyped in the Wellcome Trust Case Control consortium 2 study. Following data quality control we examined 48 mtDNA variants that were common in cohort 1 and cohort 2, and found no association with OA. None of the phenotypic subgroups previously associated with mtDNA haplogroups were associated in this study. We were not able to replicate previously published findings in the largest mtDNA association study to date. The evidence linking OA to mtDNA is not compelling at present.
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影响因子：
2.3
作者：
Fernandez-Moreno M;Soto-Hermida A;Pertega S;Oreiro N;Fernandez-Lopez C;Rego-Perez I;Blanco FJ
通讯作者：
Blanco FJ
影响因子：
9.8
作者：
Carelli, V;Achilli, A;Torroni, A
通讯作者：
Torroni, A
DOI：
10.1038/nrg1606
发表时间：
2005-05
期刊：
Nature reviews. Genetics
影响因子：
--
作者：
通讯作者：
--
影响因子：
4.4
作者：
Blanco, FJ;López-Armada, MJ;Maneiro, E
通讯作者：
Maneiro, E
影响因子：
56.9
作者：
Ruiz-Pesini, E;Mishmar, D;Wallace, DC
通讯作者：
Wallace, DC