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LRRK2 variation and Parkinson's disease in African Americans

Ross, Owen A. ; Wilhoite, Greggory J. ; Bacon, Justin A. ; Soto-Ortolaza, Alexandra I. ; Kachergus, Jennifer ; Cobb, Stephanie A ; Puschmann, Andreas LU orcid ; Vilariño-Güell, Carles ; Farrer, Matthew J. and Graff-Radford, Neill R , et al. (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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organization
publishing date
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
  • scopus:77956863399
  • pmid:20669299
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
2025-10-14 22:02:02
@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 (&gt;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}},
}