rs117248307 - POLR2A

Magnitude 4.5 · 1 study on file

Reported associations

• Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease - Unknown journal (n.d.) · Unknown authors · PubMed 33958783

  ABSTRACT: A key driver of patients' well-being and clinical trials for Parkinson's disease (PD) is the course disease takes over time (progression and prognosis). To assess how genetic variation influences the progression of PD over time to dementia (PDD), a major determinant for quality of life, we performed a genome-wide survival study (GWSS) of 11.2 million variants in 3,821 PD patients over 31,053 longitudinal visits. We discover and replicate RIMS2 as a progression locus (P = 2.78 × 10−11; hazard ratio (HR) = 4.77), identify suggestive evidence for TMEM108 (HR = 2.86, P = 2.09 × 10−8) and WWOX (HR = 2.12, P = 2.37 × 10−8), and confirm associations for GBA (HR = 1.93, P = 0.0002) and APOE (HR = 1.48, P = 0.001). Polygenic progression scores exhibit a substantial aggregate

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