title: An association analysis of the R1628P and G2385R polymorphisms of the LRRK2 gene in multiple system atrophy in a Chinese population.
abstract: BACKGROUND
  Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been reported to be responsible for autosomal dominant late-onset sporadic Parkinson's disease (PD). The R1628P and G2385R polymorphisms of the LRRK2 gene have been identified as exclusively associated with PD in Asian populations, particularly in Han Chinese population. Considering that there is overlap of the clinical manifestations and pathological characteristics between PD and MSA, we studied the possible associations between R1628P and G2385R polymorphisms of the LRRK2 and MSA in a population of Han Chinese patients.
  
  
  METHODS
  A total of 318 MSA patients and 350 unrelated age- and sex-matched healthy controls (HCs) were included in the study. All subjects were genotyped for R1628P and G2385R using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) analysis and direct sequencing.
  
  
  RESULTS
  No significant differences were observed in the genotype distribution and minor allele frequency (MAF) of R1628P between MSA patients and HCs (P = 0.418 and P = 0.424), between MSA-C and HCs (P = 0.347 and P = 0.353), between MSA-P and HCs (P = 0.787 and P = 0.790), and between MSA-C and MSA-P (P = 0.606 and P = 0.610). In addition, no significant differences were also observed in the genotype distribution and MAF of G2385R between MSA patients and HCs (P = 0.141 and P = 0.051), between MSA-C and HCs (P = 0.061 and P = 0.065), between MSA-P and HCs (P = 0.184 and P = 0.158), and between MSA-C and MSA-P (P = 0.354 and P = 0.853).
  
  
  CONCLUSIONS
  The present study suggests that R1628P and G2385R polymorphisms of the LRRK2 are not risk factors for MSA in the Han Chinese population.
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors.forename: XiaoQin
authors.initials: X
authors.lastname: Yuan
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors.forename: YongPing
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors.forename: Bei
authors.initials: B
authors.lastname: Cao
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors.forename: Bi
authors.initials: B
authors.lastname: Zhao
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors.forename: QianQian
authors.initials: Q
authors.lastname: Wei
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors.forename: XiaoYan
authors.initials: X
authors.lastname: Guo
authors.affiliation: Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Public Laboratory of West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
authors.forename: LiXing
authors.initials: L
authors.lastname: Yuan
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China. Electronic address: hfshang@yahoo.com.
authors.forename: HuiFang
authors.initials: H
authors.lastname: Shang
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies / Q000379:methods*; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D019578:Multiple System Atrophy / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011159:Population Surveillance / Q000379:methods; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases
keywords: Chinese; G2385R; LRRK2; Multiple system atrophy; R1628P