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Polygenic Risk Score, PD Motor Progression Linked
JAMA Neurology; ePub 2018 Jan 16; Paul, Schulz, et al
Susceptibility single-nucleotide polymorphisms (SNPs) for Parkinson disease (PD) combined with a cumulative polygenic risk score (PRS) were associated with faster motor and cognitive decline in patients, according to a recent study. Thus, these genetic markers may be associated with not only PD susceptibility but also disease progression in multiple domains. This longitudinal, population-based, cohort study of 285 patients of European ancestry with incident PD genotyped 23 genome-wide association study SNPs. 199 patients were followed up for a mean (SD) of 5.3 (2.1) years for progression; 57 patients had died or were too ill for follow-up, and 29 withdrew or could not be contacted. Of total patients undergoing genotyping, 160 were men (56.1%) and 125 were women (43.9%); the mean (SD) age at diagnosis was 69.1 (10.4) years. Researchers found:
- The weighted PRS was associated with significantly faster cognitive decline, measured by change in the Mini-Mental State Examination (hazard ratio [HR] per 1 SD, 1.44).
- The PRS was also associated with faster motor decline, measured by time to Hoehn & Yahr Scale stage 3 (HR, 1.34) and change in Unified Parkinson’s Disease Rating Scale part III score (HR, 1.42).
Paul KC, Schulz J, Bronstein JM, Lill CM, Ritz BR. Association of polygenic risk score with cognitive decline and motor progression in Parkinson disease. [Published online ahead of print January 16, 2018]. JAMA Neurology. doi:10.1001/jamaneurol.2017.4206.