The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients.
A common heterozygous leucine-rich repeat kinase 2 (LRRK2) mutation 6055G > A transition (G2019S) accounts for about 3-7% of familial Parkinson's disease (PD) and 1-1.6% sporadic PD in a number of European populations. To determine the prevalence of the G1019S mutation in our Asian population, we conducted genetic analysis of this mutation in 1000 PD and healthy controls. The G2019S mutation was not detected in any of our study subjects. The prevalence of G2019S mutation is rare (< 0.1%) in our population, suggesting that occurrence of this mutation may vary amongst different ethnic races. This has important clinical implication when implementing guidelines for genetic testing.
Tan
E K
EK
Department of Neurology, Clinical Research and Health Screening, Singapore General Hospital, Outram Road, Singapore. gnrtek@sgh.com.sg
Shen
H
H
Tan
L C S
LC
Farrer
M
M
Yew
K
K
Chua
E
E
Jamora
R D
RD
Puvan
K
K
Puong
K Y
KY
Zhao
Y
Y
Pavanni
R
R
Wong
M C
MC
Yih
Yuen
Y
Skipper
L
L
Liu
Jian-Jun
JJ
D000293:Adolescent; D000328:Adult; D001208:Asia / Q000453:epidemiology; D015415:Biomarkers / Q000378:metabolism; D015331:Cohort Studies; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D015994:Incidence; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000201:enzymology* / Q000453:epidemiology* / Q000235:genetics; D011110:Polymorphism, Genetic; D015995:Prevalence; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors; D012846:Singapore / Q000453:epidemiology
D015415:Biomarkers; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases