Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
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 co...
| Main Authors: | , , , , |
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| Format: | Journal article |
| Language: | English |
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Springer Nature
2021
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| _version_ | 1797078111273091072 |
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| author | Chia, R Sabir, MS Bandres-Ciga, S Parkkinen, L Ansorge, O |
| author_facet | Chia, R Sabir, MS Bandres-Ciga, S Parkkinen, L Ansorge, O |
| author_sort | Chia, R |
| collection | OXFORD |
| description | 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. |
| first_indexed | 2024-03-07T00:27:48Z |
| format | Journal article |
| id | oxford-uuid:7ebc33e2-c290-4bdf-8646-32ae7d258670 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T00:27:48Z |
| publishDate | 2021 |
| publisher | Springer Nature |
| record_format | dspace |
| spelling | oxford-uuid:7ebc33e2-c290-4bdf-8646-32ae7d2586702022-03-26T21:11:59ZGenome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architectureJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:7ebc33e2-c290-4bdf-8646-32ae7d258670EnglishSymplectic ElementsSpringer Nature2021Chia, RSabir, MSBandres-Ciga, SParkkinen, LAnsorge, OThe 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. |
| spellingShingle | Chia, R Sabir, MS Bandres-Ciga, S Parkkinen, L Ansorge, O Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture |
| title | Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture |
| title_full | Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture |
| title_fullStr | Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture |
| title_full_unstemmed | Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture |
| title_short | Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture |
| title_sort | genome sequencing analysis identifies new loci associated with lewy body dementia and provides insights into its genetic architecture |
| work_keys_str_mv | AT chiar genomesequencinganalysisidentifiesnewlociassociatedwithlewybodydementiaandprovidesinsightsintoitsgeneticarchitecture AT sabirms genomesequencinganalysisidentifiesnewlociassociatedwithlewybodydementiaandprovidesinsightsintoitsgeneticarchitecture AT bandrescigas genomesequencinganalysisidentifiesnewlociassociatedwithlewybodydementiaandprovidesinsightsintoitsgeneticarchitecture AT parkkinenl genomesequencinganalysisidentifiesnewlociassociatedwithlewybodydementiaandprovidesinsightsintoitsgeneticarchitecture AT ansorgeo genomesequencinganalysisidentifiesnewlociassociatedwithlewybodydementiaandprovidesinsightsintoitsgeneticarchitecture |