Negative / Null Result ReportOpen accessMedicine· cited by 41

Analysis of rare Parkinson’s disease variants in millions of people

Vanessa Pitz; Mary B. Makarious; Sara Bandrés‐Ciga; Hirotaka Iwaki; Stella Aslibekyan; Adam Auton; Elizabeth Babalola; Robert K. Bell · 2024 · npj Parkinson s Disease

WASTE classifies this as Negative / Null Result Report · AI classification, approximate

The study found no significant effect — useful as a negative control or null benchmark for your own design.

The finding, in one line

“Although many rare variants have been reportedly associated with Parkinson's disease (PD), many have not been replicated or have failed to replicate.”

Abstract

Although many rare variants have been reportedly associated with Parkinson's disease (PD), many have not been replicated or have failed to replicate. Here, we conduct a large-scale replication of rare PD variants. We assessed a total of 27,590 PD cases, 6701 PD proxies, and 3,106,080 controls from three data sets: 23andMe, Inc., UK Biobank, and AMP-PD. Based on well-known PD genes, 834 variants of interest were selected from the ClinVar annotated 23andMe dataset. We performed a meta-analysis using summary statistics of all three studies. The meta-analysis resulted in five significant variants

Abstract by Vanessa Pitz; Mary B. Makarious; Sara Bandrés‐Ciga; Hirotaka Iwaki; Stella Aslibekyan; Adam Auton; Elizabeth Babalola; Robert K. Bell, npj Parkinson s Disease (2024) — licensed CC BY 4.0.

Read the full paper (open access)