Journal
HUMAN MOLECULAR GENETICS
Volume 23, Issue 23, Pages 6139-6146Publisher
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddu334
Keywords
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Funding
- Parkinson's UK [K-1204]
- Wellcome Trust/MRC [WT089698]
- Alzheimer's Research UK
- Spanish Ministry of Science and Innovation [SAF2006-10126, SAF2010-22329-C02-01]
- UTE project FIMA
- Stichting Dioraphte
- Stichting VUMC fonds
- Wellcome Trust
- Medical Research Council
- Canadian Institutes of Health Research
- Ontario Research Fund
- ARUK
- Big Lottery Fund
- Taub Institute
- Panasci Fund
- Parkinson's Disease Foundation
- NIH [NS060113, P50AG008702, P50NS038370, UL1TR000040]
- Michael J. Fox Foundation
- NINDS [NS078086]
- Mangurian Foundation for Lewy body research
- Queen Square Brain Bank at the UCL Institute of Neurology
- Alzheimer's Society
- NIHR UCLH Biomedical Research Centre
- Queen Square Dementia Biomedical Research Unit
- National Institute on Aging, National Institutes of Health, Department of Health and Human Services [AG000951-12]
- MRC [MR/L022656/1, G0701075, MR/L016397/1, MC_G1000735] Funding Source: UKRI
- Alzheimers Research UK [ARUK-TRFUS2012-3, ART-BIG2009-1, ARUK-NCG2012B-1, ARUK-NCG2014A-1, ARUK-PG2014-2, ARUK-PPG2013A-2] Funding Source: researchfish
- Medical Research Council [MR/L022656/1, MC_G1000735, MR/L016397/1, G0701075, MR/L010305/1] Funding Source: researchfish
- Parkinson's UK [K-1204, G-0907] Funding Source: researchfish
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Clinical and neuropathological similarities between dementia with Lewy bodies (DLB), Parkinson's and Alzheimer's diseases (PD and AD, respectively) suggest that these disorders may share etiology. To test this hypothesis, we have performed an association study of 54 genomic regions, previously implicated in PD or AD, in a large cohort of DLB cases and controls. The cohort comprised 788 DLB cases and 2624 controls. To minimize the issue of potential misdiagnosis, we have also performed the analysis including only neuropathologically proven DLB cases (667 cases). The results show that the APOE is a strong genetic risk factor for DLB, confirming previous findings, and that the SNCA and SCARB2 loci are also associated after a study-wise Bonferroni correction, although these have a different association profile than the associations reported for the same loci in PD. We have previously shown that the p.N370S variant in GBA is associated with DLB, which, together with the findings at the SCARB2 locus, suggests a role for lysosomal dysfunction in this disease. These results indicate that DLB has a unique genetic risk profile when compared with the two most common neurodegenerative diseases and that the lysosome may play an important role in the etiology of this disorder. We make all these data available.
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