title: SLC1A2 rs3794087 are associated with susceptibility to Parkinson's disease, but not essential tremor, amyotrophic lateral sclerosis or multiple system atrophy in a Chinese population.
abstract: BACKGROUND
  The association between the polymorphism rs3794087 in the solute carrier family 1, member 2 (SLC1A2) and the risk of essential tremor (ET) among different studies is controversial. Considering the overlap of the clinical manifestations and pathological characteristics of ET, Parkinson's disease (PD), multiple system atrophy (MSA), as well as amyotrophic lateral sclerosis (ALS), we explored the possible genetic association of rs3794087 with ET, PD, MSA and ALS in a Chinese cohort.
  
  
  METHODS
  A total of 112 ET, 621 PD, 356 MSA, 513 sporadic ALS (SALS) patients and 437 healthy controls (HCs) were genotyped for rs3794087 using the Sequenom iPLEX Assay technology.
  
  
  RESULTS
  Significant association was found between SLC1A2 rs3794087 and PD in the additive model (p=0.006), which was more obvious in early onset PD. The minor allele of rs3794087 decreased the risk for early onset PD (p=0.011, OR: 0.73, 95% CI: 0.56-0.94). However, no significant differences in the genotype distributions and allele frequency were observed in the allelic, additive, dominant or recessive genetic models of SLC1A2 rs3794087 between ET patients and HCs, between SALS patients and HCs, and between MSA and HCs.
  
  
  CONCLUSIONS
  Our results suggested SLC1A2 rs3794087 may decrease the risk for PD in a Chinese cohort, but do not support a role in the susceptibility to SALS or MSA.
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors.forename: Yaqian
authors.initials: Y
authors.lastname: Xu
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: YongPing
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors.forename: RuWei
authors.initials: R
authors.lastname: Ou
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: Jing
authors.initials: J
authors.lastname: Yang
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: Wei
authors.initials: W
authors.lastname: Song
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China. Electronic address: hfshang2002@163.com.
authors.forename: Hui-Fang
authors.initials: HF
authors.lastname: Shang
mesh_terms: D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D002681:China; D015331:Cohort Studies; D020329:Essential Tremor / Q000235:genetics*; D027342:Excitatory Amino Acid Transporter 2; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D055106:Genome-Wide Association Study; D005838:Genotype; D050491:Glutamate Plasma Membrane Transport Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D019578:Multiple System Atrophy / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012720:Severity of Illness Index
chemical_list: D027342:Excitatory Amino Acid Transporter 2; D050491:Glutamate Plasma Membrane Transport Proteins; C493397:SLC1A2 protein, human
keywords: Amyotrophic lateral sclerosis; Essential tremor; Multiple system atrophy; Parkinson's disease; SLC1A2; rs3794087