title: DNAJ mutations are rare in Chinese Parkinson's disease patients and controls.
abstract: Mutations in DNAJC13, DNAJC6 and DNAJC5 have been implicated in Parkinson's disease (PD). To determine if rare coding variants in these genes play a role in PD risk in the Chinese population, we sequenced all coding exons of the three genes in 99 early-onset PD cases and 99 controls, and genotyped 8 missense variants in another 711 PD cases and 539 controls. Besides two common missense variants that did not show association with PD, the remaining missense variants were extremely rare (<0.5%), found in healthy population controls and did not show enrichment in PD cases. Our results suggest that missense mutations in DNAJC13, DNAJC5 and DNAJC6 do not play a major role in PD in the Chinese population.
authors.affiliation: Human Genetics, Genome Institute of Singapore, A*STAR, 138672 Singapore.
authors.forename: Jia Nee
authors.initials: JN
authors.lastname: Foo
authors.affiliation: Human Genetics, Genome Institute of Singapore, A*STAR, 138672 Singapore.
authors.forename: Herty
authors.initials: H
authors.lastname: Liany
authors.affiliation: Departments of Neurology, Singapore General Hospital, National Neuroscience Institute, 169108, Singapore.
authors.forename: Louis C
authors.initials: LC
authors.lastname: Tan
authors.affiliation: Departments of Neurology, Singapore General Hospital, National Neuroscience Institute, 169108, Singapore.
authors.forename: Wing-Lok
authors.initials: WL
authors.lastname: Au
authors.affiliation: Departments of Neurology, Singapore General Hospital, National Neuroscience Institute, 169108, Singapore.
authors.forename: Kumar-M
authors.initials: KM
authors.lastname: Prakash
authors.affiliation: Human Genetics, Genome Institute of Singapore, A*STAR, 138672 Singapore.
authors.forename: Jianjun
authors.initials: J
authors.lastname: Liu
authors.affiliation: Departments of Neurology, Singapore General Hospital, National Neuroscience Institute, 169108, Singapore; Duke-NUS Graduate Medical School, Singapore. Electronic address: tan.eng.king@sgh.com.sg.
authors.forename: Eng-King
authors.initials: EK
authors.lastname: Tan
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005838:Genotype; D050956:HSP40 Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*
chemical_list: C507525:DNAJC13 protein, human; C494652:DNAJC6 protein, human; D050956:HSP40 Heat-Shock Proteins; D008565:Membrane Proteins; D018832:Molecular Chaperones; C088460:cysteine string protein
keywords: Association; Chinese population; DNAJ family; Mutation; Parkinson's disease