Home > Publications Database > Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. > print |
001 | 156013 | ||
005 | 20250414104610.0 | ||
024 | 7 | _ | |a 10.1038/s41588-021-00785-3 |2 doi |
024 | 7 | _ | |a pmid:33589841 |2 pmid |
024 | 7 | _ | |a pmc:PMC7946812 |2 pmc |
024 | 7 | _ | |a 1061-4036 |2 ISSN |
024 | 7 | _ | |a 1546-1718 |2 ISSN |
024 | 7 | _ | |a altmetric:100201763 |2 altmetric |
037 | _ | _ | |a DZNE-2021-01145 |
041 | _ | _ | |a English |
082 | _ | _ | |a 570 |
100 | 1 | _ | |a Chia, Ruth |b 0 |
245 | _ | _ | |a Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. |
260 | _ | _ | |a London |c 2021 |b Macmillan Publishers Limited, part of Springer Nature |
336 | 7 | _ | |a article |2 DRIVER |
336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1744620294_16032 |2 PUB:(DE-HGF) |
336 | 7 | _ | |a ARTICLE |2 BibTeX |
336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
520 | _ | _ | |a The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer's disease and Parkinson's disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition. |
536 | _ | _ | |a 353 - Clinical and Health Care Research (POF4-353) |0 G:(DE-HGF)POF4-353 |c POF4-353 |f POF IV |x 0 |
536 | _ | _ | |a 352 - Disease Mechanisms (POF4-352) |0 G:(DE-HGF)POF4-352 |c POF4-352 |f POF IV |x 1 |
588 | _ | _ | |a Dataset connected to CrossRef, PubMed, , Journals: pub.dzne.de |
650 | _ | 7 | |a Adaptor Proteins, Signal Transducing |2 NLM Chemicals |
650 | _ | 7 | |a BIN1 protein, human |2 NLM Chemicals |
650 | _ | 7 | |a Nuclear Proteins |2 NLM Chemicals |
650 | _ | 7 | |a SNCA protein, human |2 NLM Chemicals |
650 | _ | 7 | |a Tumor Suppressor Proteins |2 NLM Chemicals |
650 | _ | 7 | |a alpha-Synuclein |2 NLM Chemicals |
650 | _ | 7 | |a GBA protein, human |0 EC 3.2.1.45 |2 NLM Chemicals |
650 | _ | 7 | |a Glucosylceramidase |0 EC 3.2.1.45 |2 NLM Chemicals |
650 | _ | 2 | |a Adaptor Proteins, Signal Transducing: genetics |2 MeSH |
650 | _ | 2 | |a Alzheimer Disease: genetics |2 MeSH |
650 | _ | 2 | |a Case-Control Studies |2 MeSH |
650 | _ | 2 | |a Gene Expression Profiling |2 MeSH |
650 | _ | 2 | |a Genetic Predisposition to Disease |2 MeSH |
650 | _ | 2 | |a Genome, Human |2 MeSH |
650 | _ | 2 | |a Genome-Wide Association Study |2 MeSH |
650 | _ | 2 | |a Glucosylceramidase: genetics |2 MeSH |
650 | _ | 2 | |a Humans |2 MeSH |
650 | _ | 2 | |a Lewy Body Disease: genetics |2 MeSH |
650 | _ | 2 | |a Nuclear Proteins: genetics |2 MeSH |
650 | _ | 2 | |a Parkinson Disease: genetics |2 MeSH |
650 | _ | 2 | |a Polymorphism, Single Nucleotide |2 MeSH |
650 | _ | 2 | |a Tumor Suppressor Proteins: genetics |2 MeSH |
650 | _ | 2 | |a alpha-Synuclein: genetics |2 MeSH |
700 | 1 | _ | |a Sabir, Marya S |b 1 |
700 | 1 | _ | |a Bandres-Ciga, Sara |b 2 |
700 | 1 | _ | |a Saez-Atienzar, Sara |b 3 |
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700 | 1 | _ | |a Walton, Ronald L |b 6 |
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700 | 1 | _ | |a Ding, Jinhui |b 9 |
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773 | _ | _ | |a 10.1038/s41588-021-00785-3 |g Vol. 53, no. 3, p. 294 - 303 |0 PERI:(DE-600)1494946-5 |n 3 |p 294 - 303 |t Nature genetics |v 53 |y 2021 |x 1546-1718 |
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