LRRK2 variation and Parkinson's disease in African Americans.
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.
Ross
Owen A
OA
Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA. ross.owen@mayo.edu
Wilhoite
Greggory J
GJ
Bacon
Justin A
JA
Soto-Ortolaza
Alexandra
A
Kachergus
Jennifer
J
Cobb
Stephanie A
SA
Puschmann
Andreas
A
Vilariño-Güell
Carles
C
Farrer
Matthew J
MJ
Graff-Radford
Neill
N
Meschia
James F
JF
Wszolek
Zbigniew K
ZK
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*
C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases