Otaegui D, Paisán C, Sáenz A, Martí I, Ribate M, Martí-Massó J F, Pérez-Tur J, López de Munain A
Experimental Unit, Hospital Donostia, Spain.
Neurosci Lett. 2004 Nov 11;370(2-3):171-4. doi: 10.1016/j.neulet.2004.08.012.
The mtDNA polymorphisms A4336G, A10398G and T4216C have been associated with PD. While A4336G is thought to be a genetic risk factor, A10398G appears to be a protective factor and T4216C is only weakly associated with the disease. In this work we analyzed the association between these three genetic polymorphisms and PD in a Spanish-PD population. The samples were classified by ethnic origin in Basques or other origin. Our analysis confirm the association between A4336G and PD. Our results with A10398G polymorphism highlight the importance of performing the association studies in ethnically homogeneous populations.
线粒体DNA多态性A4336G、A10398G和T4216C与帕金森病（PD）相关。虽然A4336G被认为是一种遗传风险因素，但A10398G似乎是一种保护因素，而T4216C与该疾病的关联较弱。在这项研究中，我们分析了西班牙帕金森病患者群体中这三种基因多态性与帕金森病之间的关联。样本按种族来源分为巴斯克人或其他种族。我们的分析证实了A4336G与帕金森病之间的关联。我们关于A10398G多态性的研究结果凸显了在种族同质群体中进行关联研究的重要性。
