Assessment of SLC25A46 variants in Parkinson’s disease

medRxiv (Cold Spring Harbor Laboratory)(2022)

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摘要
The SLC25A46 gene was recently reported to be associated with Parkinson’s disease (PD). Here, we comprehensively investigated the role of SLC25A46 variants in PD patients of European ancestry and assessed susceptibility using whole-genome sequencing data from 1647 patients with PD and 1050 healthy controls. Burden analysis of rare non-synonymous variants across case-control individuals from whole-genome data did not find evidence of SLC25A46 association with PD. Therefore, our results do not support a major role for SLC25A46 in PD in the European population and large-scale sequencing studies of family trios are necessary to further evaluate the role of SLC25A46 in PD etiology. ### Competing Interest Statement The authors have declared no competing interest. ### Funding Statement This study did not receive any funding ### Author Declarations I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes The details of the IRB/oversight body that provided approval or exemption for the research described are given below: The study used ONLY openly available human data that were originally located at AMP-PD(https://amp-pd.org/). I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines and uploaded the relevant EQUATOR Network research reporting checklist(s) and other pertinent material as supplementary files, if applicable. Yes All data produced in the present study are available upon reasonable request to the authors
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关键词
slc25a46 variants,parkinson
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