A comprehensive screening of copy number variability in dementia with Lewy bodies
(2019) In Neurobiology of Aging 75. p.1-223- Abstract
- The role of genetic variability in dementia with Lewy bodies (DLB) is now indisputable; however, data regarding copy number variation (CNV) in this disease has been lacking. Here, we used whole-genome genotyping of 1454 DLB cases and 1525 controls to assess copy number variability. We used 2 algorithms to confidently detect CNVs, performed a case-control association analysis, screened for candidate CNVs previously associated with DLB-related diseases, and performed a candidate gene approach to fully explore the data. We identified 5 CNV regions with a significant genome-wide association to DLB; 2 of these were only present in cases and absent from publicly available databases: one of the regions overlapped LAPTM4B, a known lysosomal... (More)
- The role of genetic variability in dementia with Lewy bodies (DLB) is now indisputable; however, data regarding copy number variation (CNV) in this disease has been lacking. Here, we used whole-genome genotyping of 1454 DLB cases and 1525 controls to assess copy number variability. We used 2 algorithms to confidently detect CNVs, performed a case-control association analysis, screened for candidate CNVs previously associated with DLB-related diseases, and performed a candidate gene approach to fully explore the data. We identified 5 CNV regions with a significant genome-wide association to DLB; 2 of these were only present in cases and absent from publicly available databases: one of the regions overlapped LAPTM4B, a known lysosomal protein, whereas the other overlapped the NME1 locus and SPAG9. We also identified DLB cases presenting rare CNVs in genes previously associated with DLB or related neurodegenerative diseases, such as SNCA, APP, and MAPT. To our knowledge, this is the first study reporting genome-wide CNVs in a large DLB cohort. These results provide preliminary evidence for the contribution of CNVs in DLB risk. © 2018 (Less)
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https://lup.lub.lu.se/record/d63e62df-5250-441d-bdae-6d923eaeb794
- author
- Kun-Rodrigues, Celia ; Londos, Elisabet LU and Bras, Jose
- author collaboration
- organization
- publishing date
- 2019
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Copy number variants, Dementia with Lewy bodies, Genome-wide, MAPT, SNCA
- in
- Neurobiology of Aging
- volume
- 75
- pages
- 1 - 223
- publisher
- Elsevier
- external identifiers
-
- scopus:85056701141
- pmid:30448004
- ISSN
- 1558-1497
- DOI
- 10.1016/j.neurobiolaging.2018.10.019
- language
- English
- LU publication?
- yes
- additional info
- Export Date: 29 November 2018 Article in Press
- id
- d63e62df-5250-441d-bdae-6d923eaeb794
- date added to LUP
- 2018-11-29 08:26:32
- date last changed
- 2022-05-11 03:27:56
@article{d63e62df-5250-441d-bdae-6d923eaeb794,
abstract = {{The role of genetic variability in dementia with Lewy bodies (DLB) is now indisputable; however, data regarding copy number variation (CNV) in this disease has been lacking. Here, we used whole-genome genotyping of 1454 DLB cases and 1525 controls to assess copy number variability. We used 2 algorithms to confidently detect CNVs, performed a case-control association analysis, screened for candidate CNVs previously associated with DLB-related diseases, and performed a candidate gene approach to fully explore the data. We identified 5 CNV regions with a significant genome-wide association to DLB; 2 of these were only present in cases and absent from publicly available databases: one of the regions overlapped LAPTM4B, a known lysosomal protein, whereas the other overlapped the NME1 locus and SPAG9. We also identified DLB cases presenting rare CNVs in genes previously associated with DLB or related neurodegenerative diseases, such as SNCA, APP, and MAPT. To our knowledge, this is the first study reporting genome-wide CNVs in a large DLB cohort. These results provide preliminary evidence for the contribution of CNVs in DLB risk. © 2018}},
author = {{Kun-Rodrigues, Celia and Londos, Elisabet and Bras, Jose}},
issn = {{1558-1497}},
keywords = {{Copy number variants; Dementia with Lewy bodies; Genome-wide; MAPT; SNCA}},
language = {{eng}},
pages = {{1--223}},
publisher = {{Elsevier}},
series = {{Neurobiology of Aging}},
title = {{A comprehensive screening of copy number variability in dementia with Lewy bodies}},
url = {{http://dx.doi.org/10.1016/j.neurobiolaging.2018.10.019}},
doi = {{10.1016/j.neurobiolaging.2018.10.019}},
volume = {{75}},
year = {{2019}},
}