title: The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients.
abstract: 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.
authors.affiliation: Department of Neurology, Clinical Research and Health Screening, Singapore General Hospital, Outram Road, Singapore. gnrtek@sgh.com.sg
authors.forename: E K
authors.initials: EK
authors.lastname: Tan
authors.forename: H
authors.initials: H
authors.lastname: Shen
authors.forename: L C S
authors.initials: LC
authors.lastname: Tan
authors.forename: M
authors.initials: M
authors.lastname: Farrer
authors.forename: K
authors.initials: K
authors.lastname: Yew
authors.forename: E
authors.initials: E
authors.lastname: Chua
authors.forename: R D
authors.initials: RD
authors.lastname: Jamora
authors.forename: K
authors.initials: K
authors.lastname: Puvan
authors.forename: K Y
authors.initials: KY
authors.lastname: Puong
authors.forename: Y
authors.initials: Y
authors.lastname: Zhao
authors.forename: R
authors.initials: R
authors.lastname: Pavanni
authors.forename: M C
authors.initials: MC
authors.lastname: Wong
authors.forename: Yuen
authors.initials: Y
authors.lastname: Yih
authors.forename: L
authors.initials: L
authors.lastname: Skipper
authors.forename: Jian-Jun
authors.initials: JJ
authors.lastname: Liu
mesh_terms: 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
chemical_list: D015415:Biomarkers; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases