title: Association of three candidate genetic variants in RAB7L1/NUCKS1, MCCC1 and STK39 with sporadic Parkinson's disease in Han Chinese.
abstract: Previous studies identified that polymorphisms RAB7L1/NUCKS1 rs823118, MCCC1 rs12637471 and STK39 rs1955337 to be the risk loci for Parkinson's disease (PD) in a Caucasian population. However, the characteristics of these three polymorphisms in a Han Chinese population from mainland China were unknown. We examined genetic associations of rs823118, rs12637471 and rs1955337 with PD susceptibility in a Han Chinese population of 1016 sporadic PD patients and 1069 controls. We also conducted further stratified analysis according to age at onset and compared the clinical characteristics between minor allele carriers and non-carriers for each locus. In this study, the minor allele frequency (MAF) was significantly different of RAB7L1/NUCKS1 rs823118 (P = 0.003) and MCCC1 rs12637471 (P = 0.008) between cases and controls. Subjects of RAB7L1/NUCKS1 rs823118 with CC+CT genotypes had a decreased risk compared to those with TT genotype (P = 0.001) and this association also can be seen among younger population (<50 years, P = 0.011). For the MCCC1 rs12637471, subjects with GA+GG genotypes had an increased risk compared to those with AA genotype (P = 0.017). However, we did not observe any significant difference in allele and genotype distribution between PD patients and controls for rs1955337 in STK39. In addition, minor allele carriers cannot be distinguished from non-carriers based on their clinical features of the three loci. Our study provides strong support for the susceptibility role of rs823118 and rs12637471 in sporadic PD in a Han Chinese population.
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Sichuan, 610041, Sichuan Province, People's Republic of China.
authors.forename: Ling
authors.initials: L
authors.lastname: Wang
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Sichuan, 610041, Sichuan Province, People's Republic of China.
authors.forename: Lan
authors.initials: L
authors.lastname: Cheng
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Sichuan, 610041, Sichuan Province, People's Republic of China.
authors.forename: Zhong-Jiao
authors.initials: ZJ
authors.lastname: Lu
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Sichuan, 610041, Sichuan Province, People's Republic of China.
authors.forename: Xiao-Yi
authors.initials: XY
authors.lastname: Sun
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Sichuan, 610041, Sichuan Province, People's Republic of China.
authors.forename: Jun-Ying
authors.initials: JY
authors.lastname: Li
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Sichuan, 610041, Sichuan Province, People's Republic of China. qrongpeng@126.com.
authors.forename: Rong
authors.initials: R
authors.lastname: Peng
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics*; D019735:Carbon-Carbon Ligases / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; D020691:rab GTP-Binding Proteins; D020761:rab1 GTP-Binding Proteins / Q000235:genetics*
chemical_list: C000598762:Rab29 protein, human; D017346:Protein Serine-Threonine Kinases; C486409:STK39 protein, human; D020691:rab GTP-Binding Proteins; D020761:rab1 GTP-Binding Proteins; D019735:Carbon-Carbon Ligases; C000609234:MCCC1 protein, human
keywords: MCCC1; Parkinson’s disease; RAB7L1/NUCKS1; SNPs; STK39