Kalinderi K, Bostantjopoulou S, Fidani L
Department of General Biology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.
3rd University Department of Neurology, G. Papanikolaou Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Acta Neurol Scand. 2016 Nov;134(5):314-326. doi: 10.1111/ane.12563. Epub 2016 Feb 12.
Almost two decades of genetic research in Parkinson's disease (PD) have remarkably increased our knowledge regarding the genetic basis of PD with numerous genes and genetic loci having been found to cause familial PD or affect the risk for PD. Approximately 5-10% of PD patients have monogenic forms of the disease, exhibiting a classical Mendelian type of inheritance, however, the majority PD cases are sporadic, probably caused by a combination of genetic and environmental risk factors. Nowadays, six genes, alpha synuclein, LRRK2, VPS35, Parkin, PINK1 and DJ-1, have definitely been associated with an autosomal dominant or recessive PD mode of inheritance. The advent of genome-wide association studies (GWAS) and the implementation of new technologies, like next generation sequencing (NGS) and exome sequencing has undoubtedly greatly aided the identification on novel risk variants for sporadic PD. In this review, we will summarize the current progress and future prospects in the field of PD genetics.
近二十年来对帕金森病(PD)的基因研究显著增加了我们对PD遗传基础的认识,已发现众多基因和基因位点可导致家族性PD或影响患PD的风险。约5%-10%的PD患者患有单基因形式的疾病,表现出经典的孟德尔遗传类型,然而,大多数PD病例是散发性的,可能由遗传和环境风险因素共同导致。如今,六个基因,即α-突触核蛋白、LRRK2、VPS35、Parkin、PINK1和DJ-1,已明确与常染色体显性或隐性PD遗传模式相关。全基因组关联研究(GWAS)的出现以及新技术如新一代测序(NGS)和外显子组测序的应用无疑极大地有助于识别散发性PD的新风险变异。在本综述中,我们将总结PD遗传学领域的当前进展和未来前景。