title: Analysis of EIF4G1 in Parkinson's disease among Asians.
abstract: Sequence analysis of all the exons of EIF4G1 in 96 Asian patients with Parkinson's disease (PD) did not reveal any pathogenic mutations. A novel coding variant (Pro693Ser) in exon 15 (position 2077) was detected in one PD patient but not in 539 control subjects. Analysis of a coding polymorphic variant (rs2178403) in 1330 subjects revealed similar frequency between control subjects (0.638) and PD patients (0.640). EIF4G1 is an uncommon cause of PD in our Asian cohort.
authors.affiliation: Departments of Neurology and Clinical Research, Singapore General Hospital, National Neuroscience Institute, Singapore.
authors.forename: Yi
authors.initials: Y
authors.lastname: Zhao
authors.forename: Patrick
authors.initials: P
authors.lastname: Ho
authors.forename: Kumar-M
authors.initials: KM
authors.lastname: Prakash
authors.forename: Jia-Nee
authors.initials: JN
authors.lastname: Foo
authors.forename: Jian-Jun
authors.initials: JJ
authors.lastname: Liu
authors.forename: Wing-Lok
authors.initials: WL
authors.lastname: Au
authors.forename: Louis C
authors.initials: LC
authors.lastname: Tan
authors.forename: Eng-King
authors.initials: EK
authors.lastname: Tan
mesh_terms: D000368:Aged; D044466:Asian People / Q000706:statistics & numerical data*; D039603:Eukaryotic Initiation Factor-4G / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000208:ethnology* / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000208:ethnology* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015995:Prevalence; D012307:Risk Factors; D006113:United Kingdom / Q000453:epidemiology
chemical_list: C113920:EIF4G1 protein, human; D039603:Eukaryotic Initiation Factor-4G; D005819:Genetic Markers