title: EIF4G1 Ala502Val and Arg1205His variants in Chinese patients with Parkinson disease.
abstract: Growing evidences show that genetic abnormalities play an important role in the etiopathogenesis of Parkinson disease (PD). At least 18 genetic loci and 13 disease-related genes for parkinsonism have been identified. Recently, the p.Ala502Val and p.Arg1205His variants in the eukaryotic translation initiation factor 4-gamma 1 gene (EIF4G1) were found to be associated with PD. To evaluate whether the EIF4G1 p.Ala502Val and p.Arg1205His variants are related to PD in Chinese Han population, we conducted genetic examination of these two variants in 425 PD patients from Mainland China and none was found in our patients. We did identify a known non-pathogenic polymorphism c.3660C>T (p.Ala1220Ala, rs143852330) in a 73-year-old male patient. Our results, consistent with other recent reports, suggest that the EIF4G1 p.Ala502Val and p.Arg1205His variants are a rare cause of PD, at least in Chinese population.
authors.affiliation: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Lamei
authors.initials: L
authors.lastname: Yuan
authors.forename: Zhi
authors.initials: Z
authors.lastname: Song
authors.forename: Hongbo
authors.initials: H
authors.lastname: Xu
authors.forename: Shaojuan
authors.initials: S
authors.lastname: Gu
authors.forename: Anding
authors.initials: A
authors.lastname: Zhu
authors.forename: Lina
authors.initials: L
authors.lastname: Gong
authors.forename: Yongxiang
authors.initials: Y
authors.lastname: Zhao
authors.forename: Hao
authors.initials: H
authors.lastname: Deng
mesh_terms: D000368:Aged; D044466:Asian People; D039603:Eukaryotic Initiation Factor-4G / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: C113920:EIF4G1 protein, human; D039603:Eukaryotic Initiation Factor-4G