Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population
Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population
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DOI：
10.1016/j.mito.2012.08.004
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发表时间：
2012-11-01
期刊：
影响因子：
4.4
通讯作者：
Bindoff, Laurence A.
中科院分区：
文献类型：
--
作者：
Balafkan, Novin;Tzoulis, Charalampos;Bindoff, Laurence A.
在某些人群中，线粒体DNA聚合酶γ（POLG1）基因中CAG重复序列的数量与帕金森病（PD）相关。我们对191名挪威PD患者和相同数量的对照组进行了POLG1的CAG序列测序，发现非10或11个CAG重复序列与我们人群中的PD之间存在关联。虽然我们的结果是显着的，但这种趋势并没有保持在多次测试的校正后。我们还对所有已发表的研究进行了荟萃分析，包括我们自己的研究，这些研究表明PD与POLG1中CAG重复序列的数量相关。荟萃分析表明，罕见的等位基因变异所涵盖的非10 CAG重复与PD显着相关（p = 0.0017）。这是否反映了POLG对PD发病机制的直接影响，或POLG 1等位基因与附近影响疾病的遗传变异之间的连锁不平衡，仍不清楚。(C)2012 Elsevier B.V.和线粒体研究学会。All rights reserved.
The number of CAG repeats in the mitochondrial DNA-polymerase gamma (POLG1) gene has been associated with Parkinson disease (PD) in some populations. We sequenced the CAG tract of POLG1 in 191 Norwegian patients with PD and an equal number of controls and found an association between non-10 or 11 CAG repeats and PD in our population. While our results were significant, this trend was not maintained following correction for multiple testing. We also performed a meta-analysis of all published studies including our own that shows PD is associated with the number of CAG repeats in POLG1. The meta-analysis reveals that the rare allelic variation encompassed by non-10 CAG repeats associates significantly with PD (p = 0.0017). Whether this reflects a direct influence of POLG on the pathogenesis of PD or linkage disequilibrium between POLG1 alleles and nearby, disease-influencing genetic variants remains unknown. (C) 2012 Elsevier B.V. and Mitochondria Research Society. All rights reserved.