Mitochondrial superclusters influence age of onset of Parkinson's disease in a gender specific manner in the Cypriot population: A case-control study.
Mitochondrial superclusters influence age of onset of Parkinson's disease in a gender specific manner in the Cypriot population: A case-control study.
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DOI：
10.1371/journal.pone.0183444
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发表时间：
2017
期刊：
影响因子：
3.7
通讯作者：
Zamba-Papanicolaou E
中科院分区：
文献类型：
--
作者：
Georgiou A;Demetriou CA;Heraclides A;Christou YP;Leonidou E;Loukaides P;Yiasoumi E;Panagiotou D;Manoli P;Thomson P;Loizidou MA;Hadjisavvas A;Zamba-Papanicolaou E
尽管有证据支持线粒体功能障碍参与某些神经退行性疾病的发病机制，但有关线粒体单倍群及其与神经退行性疾病（包括特发性帕金森病（PD））的关联的研究结果不一致。为了在希族塞人群体中检验这一假设，招募了 230 名 PD 患者和 457 名健康匹配对照者。确定了病例和对照的线粒体单倍群分布。在线粒体单倍群和 PD 之间进行关联测试。线粒体单倍群 U 与塞浦路斯人群 PD 风险降低相关。将线粒体单倍群汇集在一起形成单倍群簇和超簇后，关联测试证明线粒体单倍群簇 N (xR) 和超簇 LMN 仅对女性的 PD 风险具有显着的保护作用。此外，对于属于UKJT和R（xH，xUKJT）单倍群的女性PD病例，PD发病年龄较晚的几率分别比属于H单倍群的女性病例高13倍和15倍。 PD风险和PD发病年龄之间的统计显着关联主要在女性中被发现，因此表明性别是线粒体单倍群和PD状态/PD发病年龄之间的风险调节因子。这种性别特异性背后的生物学机制仍有待确定。
Despite evidence supporting an involvement of mitochondrial dysfunction in the pathogenesis of some neurodegenerative disorders, there are inconsistent findings concerning mitochondrial haplogroups and their association to neurodegenerative disorders, including idiopathic Parkinson’s disease (PD). To test this hypothesis for the Greek-Cypriot population, a cohort of 230 PD patients and 457 healthy matched controls were recruited. Mitochondrial haplogroup distributions for cases and controls were determined. Association tests were carried out between mitochondrial haplogroups and PD. Mitochondrial haplogroup U was associated with a reduced PD risk in the Cypriot population. After pooling mitochondrial haplogroups together into haplogroup clusters and superclusters, association tests demonstrated a significantly protective effect of mitochondrial haplogroup cluster N (xR) and supercluster LMN for PD risk only in females. In addition, for female PD cases belonging to UKJT and R (xH, xUKJT) haplogroup, the odds of having a later age of onset of PD were 13 and 15 times respectively higher than the odds for female cases with an H haplogroup. Statistically significant associations regarding PD risk and PD age of onset were mostly detected for females thus suggesting that gender is a risk modifier between mitochondrial haplogroups and PD status / PD age of onset. The biological mechanisms behind this gender specificity remain to be determined.
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影响因子：
5.6
作者：
Ciccone S;Maiani E;Bellusci G;Diederich M;Gonfloni S
通讯作者：
Gonfloni S
影响因子：
5.2
作者：
Ghezzi, D;Marelli, C;Zeviani, M
通讯作者：
Zeviani, M
DOI：
10.1002/ajmg.b.32276
发表时间：
2015-01-01
影响因子：
2.8
作者：
Fachal, Laura;Mosquera-Miguel, Ana;Salas, Antonio
通讯作者：
Salas, Antonio
影响因子：
3.3
作者：
Gaweda-Walerych, Katarzyna;Maruszak, Aleksandra;Zekanowski, Cezary
通讯作者：
Zekanowski, Cezary
DOI：
10.1126/science.1243518
发表时间：
2014-02-14
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Hellenthal G;Busby GBJ;Band G;Wilson JF;Capelli C;Falush D;Myers S
通讯作者：
Myers S