Publication Cover
Amyloid
The Journal of Protein Folding Disorders
Volume 30, 2023 - Issue 4
104
Views
0
CrossRef citations to date
0
Altmetric
Letters to the Editor

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

, , &
Pages 442-444 | Received 03 Mar 2023, Accepted 07 Jun 2023, Published online: 14 Jul 2023

References

  • Buxbaum JN, Dispenzieri A, Eisenberg DS, et al. Amyloid nomenclature 2022: update, novel proteins, and recommendations by the international society of amyloidosis (ISA) nomenclature committee. Amyloid. 2022;29(4):213–219. doi: 10.1080/13506129.2022.2147636.
  • Wang Q, Dhindsa RS, Carss K, et al. Rare variant contribution to human disease in 281,104 UK biobank exomes. Nature. 2021;597(7877):527–532. doi: 10.1038/s41586-021-03855-y.
  • 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.
  • 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.
  • Charoenkwan P, Ahmed S, Nantasenamat C, et al. AMYPred-FRL is a novel approach for accurate prediction of amyloid proteins by using feature representation learning. Sci Rep. 2022;12(1):7697. doi: 10.1038/s41598-022-11897-z.
  • Thiel A, Hermanns C, Lauer AA, et al. Vitamin D and its analogues: from differences in molecular mechanisms to potential benefits of adapted use in the treatment of alzheimer’s disease. Nutrients. 2023;15(7):1684. doi: 10.3390/nu15071684.
  • Ravichandran S, Lachmann HJ, Wechalekar AD. Epidemiologic and survival trends in amyloidosis, 1987–2019. N Engl J Med. 2020;382(16):1567–1568. doi: 10.1056/NEJMc1917321.
  • Pinney JH, Smith CJ, Taube JB, et al. Systemic amyloidosis in England: an epidemiological study. Br J Haematol. 2013;161(4):525–532. doi: 10.1111/bjh.12286.
  • Canetti D, Rendell NB, Gilbertson JA, et al. Diagnostic amyloid proteomics: experience of the UK national amyloidosis Centre. Clin Chem Lab Med. 2020;58(6):948–957. doi: 10.1515/cclm-2019-1007.
  • Lachmann HJ, Booth DR, Booth SE, et al. Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med. 2002;346(23):1786–1791. doi: 10.1056/NEJMoa013354.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.