Rare-variant collapsing and bioinformatic analyses for amyloidosis, dementia and Parkinson's disease in the UK biobank reveal novel susceptibility loci

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis(2023)

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Click to increase image sizeClick to decrease image size AcknowledgmentsWe acknowledge the free access to the Astra Zeneca and Genebass portals that made this work possible (https://azphewas.com/ and https://app.genebass.org/) [3 Karczewski KJ, Solomonson M, Chao KR, et al. Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK biobank exomes. Cell Genom. 2022;2(9):100168. doi: 10.1016/j.xgen.2022.100168.[Crossref], [PubMed] , [Google Scholar],4 Goldschmidt L, Teng PK, Riek R, et al. Identifying the amylome, proteins capable of forming amyloid-like fibrils. Proc Natl Acad Sci USA. 2010;107(8):3487–3492. doi: 10.1073/pnas.0915166107.[Crossref], [PubMed], [Web of Science ®] , [Google Scholar]].Disclosure statementNo potential conflict of interest was reported by the author(s).Additional informationFundingThis work was supported by a grant awarded to Dr. Bengt Zöller by ALF-funding from Region Skåne, Sparbanken Skåne, and by the Swedish Research Council. The funders had no role in the study.
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关键词
amyloidosis,dementia,bioinformatic analyses,parkinsons,disease,rare-variant
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