Abstract
Parkinson’s disease (PD) is the second most common neurodegenerative disorder characterized by the loss of dopaminergic neurons. The vast majority of PD patients develop the disease sporadically and it is assumed that the cause lies in polygenic and environmental components. The overall polygenic risk is the result of a large number of common low-risk variants discovered by large genome-wide association studies (GWAS). Polygenic risk scores (PRS), generated by compiling genome-wide significant variants, are a useful prognostic tool that quantifies the cumulative effect of genetic risk in a patient and in this way helps to identify high-risk patients. Although there are limitations to the construction and application of PRS, such as considerations of limited genetic underpinning of diseases explained by SNPs and generalizability of PRS to other populations, this personalized risk prediction could make a promising contribution to stratified medicine and tailored therapeutic interventions in the future.
Highlights
Parkinson’s disease (PD) is the second most common neurodegenerative disorder characterized by the loss of dopaminergic neurons
Consistent with the common disease-common variant (CDCV) hypothesis, PD overall genetic risk can be considered to be a consequence of the synergistic effect of a large number of common low-risk variants [3]
Polygenic risk scores (PRS) are usually calculated as the sum of common variants (SNPs) weighted by corresponding effect size estimates and certain P-values derived from genome-wide association studies (GWAS) summary statistics data
Summary
Parkinson’s disease (PD) is the second most common neurodegenerative disorder characterized by the abnormal aggregation of the protein a-synuclein in the form of Lewy bodies and Lewy neurites and the degeneration predominantly of dopaminergic neurons of the midbrain. Within each individual, are hoped to facilitate population stratification and identification of high-risk individuals This personalized risk prediction may hold promise for the future by the means of stratified medicine and tailored therapeutic interventions. Each such claim will require extensive investigation to justify its practical application -called Polygenic scores (PRS) have been constructed through the compilation of genome-wide significant variants emerging from successive and ever-larger GWAS with the intention to capture the cumulative effect of many low to intermediate risk variants in a patient population. “PRS,” and “polygenic scores” in the PubMed advanced search engine to access all papers to review the current PRS approaches and their applications in PD
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