title: The role of the Ala746Thr variant in the ATP13A2 gene among Chinese patients with Parkinson's disease.
abstract: The association between idiopathic Parkinson's disease (PD) and the ATP13A2 (PARK9) Ala746Thr variant, associated with Kufor-Rakeb syndrome, is controversial. We investigated this association in 69 patients with early onset PD (EOPD; ≦50 years of age), 192 patients with late onset PD (LOPD; >50 years of age), and 180 healthy controls in the Chinese population in Hong Kong. The presence of the Ala746Thr variant in the ATP13A2 locus was examined in all participants. We detected the heterozygous Ala746Thr variant in one healthy control (0.6%), one patient with EOPD (1.4%, p=0.50), and one patient with LOPD (0.5%, p=0.96). We suggest that the ATP13A2 Ala746Thr variant is not a common risk factor for PD in the Chinese population in Hong Kong.
authors.affiliation: Division of Neurology, Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Shatin, Hong Kong.
authors.forename: Anne Y Y
authors.initials: AY
authors.lastname: Chan
authors.forename: Larry
authors.initials: L
authors.lastname: Baum
authors.forename: Nelson L S
authors.initials: NL
authors.lastname: Tang
authors.forename: Christine Y K
authors.initials: CY
authors.lastname: Lau
authors.forename: Ping Wing
authors.initials: PW
authors.lastname: Ng
authors.forename: Kwok Fai
authors.initials: KF
authors.lastname: Hui
authors.forename: Yoshi
authors.initials: Y
authors.lastname: Mizuno
authors.forename: Justin Y
authors.initials: JY
authors.lastname: Kwan
authors.forename: Vincent C T
authors.initials: VC
authors.lastname: Mok
authors.forename: Sheng-Han
authors.initials: SH
authors.lastname: Kuo
mesh_terms: D017668:Age of Onset; D000409:Alanine / Q000235:genetics; D044466:Asian People / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006723:Hong Kong; D006801:Humans; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D006180:Proton-Translocating ATPases / Q000235:genetics*; D012307:Risk Factors; D013912:Threonine / Q000235:genetics
chemical_list: C514983:ATP13A2 protein, human; D013912:Threonine; D006180:Proton-Translocating ATPases; D000409:Alanine