A founding LRRK2 haplotype shared by Tunisian, US, European and Middle Eastern families with Parkinson's disease.
The Leucine-rich repeat kinase 2 (LRRK2) gene has been identified as a disease susceptibility gene for Parkinson's disease (PD), with G2019 (6055G>A) being the most frequent mutation. This mutation was present in 42% (38/91) of Tunisian families and 2% (1/39) of US families we have studied. A founding haplotype was identified in our data and it is shared by families from Tunisia, US, European and Middle Eastern countries. The most recent common founder of the mutation was dated to 2600 (95% CI: 1950-3850) years ago although additional studies are warranted to ensure an accurate age estimate for this mutation.
Warren
L
L
Research and Development, GlaxoSmithKline Pharmaceuticals, Research Triangle Park, NC 27709, USA. liling.warren@gsk.com
Gibson
R
R
Ishihara
L
L
Elango
R
R
Xue
Z
Z
Akkari
A
A
Ragone
L
L
Pahwa
Rajesh
R
Jankovic
Joseph
J
Nance
Martha
M
Freeman
Alan
A
Watts
Ray L
RL
Hentati
F
F
D000328:Adult; D000368:Aged; D005060:Europe; D005260:Female; D018703:Founder Effect; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D008877:Middle East; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D014416:Tunisia; D014481:United States
C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases