Faculty of Health, University of Plymouth, Plymouth PL4 8AA, UK.
Department of Clinical and Movement Neurosciences, University College London Institute of Neurology, London WC1N 3BG, UK.
Genes (Basel). 2021 Jun 30;12(7):1006. doi: 10.3390/genes12071006.
The genetic landscape of Parkinson's disease (PD) is characterised by rare high penetrance pathogenic variants causing familial disease, genetic risk factor variants driving PD risk in a significant minority in PD cases and high frequency, low penetrance variants, which contribute a small increase of the risk of developing sporadic PD. This knowledge has the potential to have a major impact in the clinical care of people with PD. We summarise these genetic influences and discuss the implications for therapeutics and clinical trial design.
帕金森病 (PD) 的遗传特征是罕见的高外显率致病性变异导致家族性疾病，少数遗传风险因素变异导致 PD 病例中的 PD 风险，以及高频、低外显率变异，这些变异导致散发型 PD 的发病风险略有增加。这些知识有可能对 PD 患者的临床护理产生重大影响。我们总结了这些遗传影响，并讨论了它们对治疗和临床试验设计的意义。
