title: LRRK2 variation and Parkinson's disease in African Americans.
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.
authors.affiliation: Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA. ross.owen@mayo.edu
authors.forename: Owen A
authors.initials: OA
authors.lastname: Ross
authors.forename: Greggory J
authors.initials: GJ
authors.lastname: Wilhoite
authors.forename: Justin A
authors.initials: JA
authors.lastname: Bacon
authors.forename: Alexandra
authors.initials: A
authors.lastname: Soto-Ortolaza
authors.forename: Jennifer
authors.initials: J
authors.lastname: Kachergus
authors.forename: Stephanie A
authors.initials: SA
authors.lastname: Cobb
authors.forename: Andreas
authors.initials: A
authors.lastname: Puschmann
authors.forename: Carles
authors.initials: C
authors.lastname: Vilariño-Güell
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Farrer
authors.forename: Neill
authors.initials: N
authors.lastname: Graff-Radford
authors.forename: James F
authors.initials: JF
authors.lastname: Meschia
authors.forename: Zbigniew K
authors.initials: ZK
authors.lastname: Wszolek
mesh_terms: D000328:Adult; D001741:Black or African American / Q000235:genetics*; D000368:Aged; D000483:Alleles; D005091:Exons; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000208:ethnology* / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases