LRRK2 variation and Parkinson's disease in African Americans
(2010) In Movement Disorders 25(12). p.1973-1992- Abstract
The global impact of LRRK2 mutations is yet to be realized with a lack of studies in specific ethnic groups, including those of Asian and African descent. Herein, we investigated the frequency of common LRRK2 variants by complete exon sequencing in a series of publicly available African American Parkinson's disease patients. Our study identified three novel synonymous exonic variants and 13 known coding variations; however, there did not appear to be any frequent (>5%) pathogenic mutations. Given the ethnic-specific LRRK2 variation previously identified in PD further studies in under-represented populations are warranted.
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https://lup.lub.lu.se/record/bb267ef7-d1f5-4a2c-8ddf-b79d9d0a9d69
- author
- organization
- publishing date
- 2010-09-15
- type
- Contribution to journal
- publication status
- published
- keywords
- Genetics, Leucine-rich repeat kinase 2, Parkinsonism
- in
- Movement Disorders
- volume
- 25
- issue
- 12
- pages
- 20 pages
- publisher
- John Wiley & Sons Inc.
- external identifiers
-
- pmid:20669299
- scopus:77956863399
- ISSN
- 0885-3185
- DOI
- 10.1002/mds.23163
- language
- English
- LU publication?
- no
- id
- bb267ef7-d1f5-4a2c-8ddf-b79d9d0a9d69
- date added to LUP
- 2017-03-31 11:59:03
- date last changed
- 2024-01-13 18:06:18
@article{bb267ef7-d1f5-4a2c-8ddf-b79d9d0a9d69, abstract = {{<p>The global impact of LRRK2 mutations is yet to be realized with a lack of studies in specific ethnic groups, including those of Asian and African descent. Herein, we investigated the frequency of common LRRK2 variants by complete exon sequencing in a series of publicly available African American Parkinson's disease patients. Our study identified three novel synonymous exonic variants and 13 known coding variations; however, there did not appear to be any frequent (>5%) pathogenic mutations. Given the ethnic-specific LRRK2 variation previously identified in PD further studies in under-represented populations are warranted.</p>}}, author = {{Ross, Owen A. and Wilhoite, Greggory J. and Bacon, Justin A. and Soto-Ortolaza, Alexandra I. and Kachergus, Jennifer and Cobb, Stephanie A and Puschmann, Andreas and Vilariño-Güell, Carles and Farrer, Matthew J. and Graff-Radford, Neill R and Meschia, James F. and Wszolek, Zbigniew K}}, issn = {{0885-3185}}, keywords = {{Genetics; Leucine-rich repeat kinase 2; Parkinsonism}}, language = {{eng}}, month = {{09}}, number = {{12}}, pages = {{1973--1992}}, publisher = {{John Wiley & Sons Inc.}}, series = {{Movement Disorders}}, title = {{LRRK2 variation and Parkinson's disease in African Americans}}, url = {{http://dx.doi.org/10.1002/mds.23163}}, doi = {{10.1002/mds.23163}}, volume = {{25}}, year = {{2010}}, }