ELAVL4, PARK10, and the Celts.
Genetic variability in ELAVL4 located in the PARK10 locus was recently associated with age-at-onset (AAO) in a series of Parkinson's disease (PD) patients originating from the United States. We examined five markers spanning ELAVL4 in Norwegian, United States, and Irish PD case-control samples. No association was found between the examined markers and AAO or PD in Norwegian or US samples. However, ELAVL4 markers (rs967582 and rs3902720) were significantly associated with susceptibility to PD in our Irish series. Our data suggest that the association between ELAVL4 and PD previously observed might be explained by a Celtic-founder effect.
Haugarvoll
Kristoffer
K
Department of Neuroscience and Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA. haugarvoll.kristoffer@mayo.edu
Toft
Mathias
M
Ross
Owen A
OA
Stone
Jeremy T
JT
Heckman
Michael G
MG
White
Linda R
LR
Lynch
Timothy
T
Gibson
John Mark
JM
Wszolek
Zbigniew K
ZK
Uitti
Ryan J
RJ
Aasly
Jan O
JO
Farrer
Matthew J
MJ
D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D051959:ELAV Proteins / Q000235:genetics*; D000067779:ELAV-Like Protein 4; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009664:Norway / Q000208:ethnology; D010300:Parkinson Disease / Q000208:ethnology* / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D014481:United States
D051959:ELAV Proteins; D000067779:ELAV-Like Protein 4; C498010:ELAVL4 protein, human; D005819:Genetic Markers; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases