title: HLA-DRA/HLA-DRB5 polymorphism affects risk of sporadic ALS and survival in a southwest Chinese cohort.
abstract: BACKGROUND
  Frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS) and Parkinson's disease (PD) are neurodegenerative diseases that share common genetic risk factors. A recent genome-wide association study has linked risk of FTD with polymorphisms in the HLA-DRA/HLA-DRB5 gene (rs9268877, rs9268856), BTNL2 gene (rs1980493), and RAB38/CTSC gene (rs302668).
  
  
  METHODS
  We used the SNPscan™ Kit to genotype these variants in 400 Chinese patients with sporadic ALS, 554 with sporadic PD and 634 healthy controls.
  
  
  RESULTS
  The AA genotype at rs9268856 increased risk of ALS (P=0.005). Mean survival time was significantly shorter in patients with the AA genotype (24.8±16.2months) than in patients with other genotypes (36.9±19.9months; P<0.001). Kaplan-Meier curves and Cox analysis indicated significantly lower survival probability for patients carrying the AA genotype (P<0.001).
  
  
  CONCLUSIONS
  Our results suggest that the AA genotype at rs9268856 is an independent risk factor and prognostic factor for ALS in Han Chinese from southwest China.
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan Province 610041, PR China.
authors.forename: Xinglong
authors.initials: X
authors.lastname: Yang
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan Province 610041, PR China.
authors.forename: JinHua
authors.initials: J
authors.lastname: Zheng
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan Province 610041, PR China.
authors.forename: Sijia
authors.initials: S
authors.lastname: Tian
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan Province 610041, PR China.
authors.forename: Yalan
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan Province 610041, PR China.
authors.forename: Ran
authors.initials: R
authors.lastname: An
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan Province 610041, PR China.
authors.forename: Quanzhen
authors.initials: Q
authors.lastname: Zhao
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan Province 610041, PR China. Electronic address: neuroxym999@163.com.
authors.forename: Yanming
authors.initials: Y
authors.lastname: Xu
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D000071797:Butyrophilins / Q000235:genetics; D016022:Case-Control Studies; D020789:Cathepsin C / Q000235:genetics; D002681:China; D005260:Female; D020022:Genetic Predisposition to Disease; D059805:HLA-DR alpha-Chains / Q000235:genetics*; D059847:HLA-DRB5 Chains / Q000235:genetics*; D006801:Humans; D053208:Kaplan-Meier Estimate; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D016016:Proportional Hazards Models; D012189:Retrospective Studies; D020691:rab GTP-Binding Proteins / Q000235:genetics
chemical_list: C408263:BTNL2 protein, human; D000071797:Butyrophilins; D059805:HLA-DR alpha-Chains; D059847:HLA-DRB5 Chains; C533918:CTSC protein, human; D020789:Cathepsin C; C412058:RAB38 protein, human; D020691:rab GTP-Binding Proteins
keywords: Amyotrophic lateral sclerosis; BTNL2; Frontotemporal dementia; HLA-DRA/HLA-DRB5; Kaplan-Meier survival curves; Parkinson's disease; RAB38/CTSC