期刊
GENES
卷 12, 期 7, 页码 -出版社
MDPI
DOI: 10.3390/genes12071006
关键词
Parkinson's disease; genetics; precision medicine; clinical trials; monogenic; polygenic
资金
- National Institute for Health Research
The genetic landscape of Parkinson's disease includes rare high penetrance pathogenic variants, genetic risk factor variants, and high frequency, low penetrance variants which contribute to the risk of developing the disease. Understanding these influences can have a major impact on the clinical care of PD patients.
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.
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