title: Association of the functional SNP rs2275294 in ZNF512B with risk of amyotrophic lateral sclerosis and Parkinson's disease in Han Chinese.
abstract: The single nucleotide polymorphism (SNP) rs2275294 of the ZNF512B gene has been reported to be associated with a risk of ALS in the Japanese population. Here we conducted a case-control study examining the possible association of rs2275294 with risk of sporadic ALS and PD in Han Chinese. Our study included 301 patients with ALS and 457 age- and gender-matched controls, as well as 555 patients with PD and 473 age- and gender-matched controls. Subjects were genotyped at rs2275293 using the ligase detection reaction. The genotype distribution of rs2275294 shows significant difference between patients with ALS and the control group according to the dominant model (OR 1.518, 95% CI 1.074-2.145, p = 0.018) and based on alleles (OR 1.249, 95% 1.016-1.534, p = 0.035). Stratification analysis showed a significant difference between females with ALS and female controls based on the dominant model (OR 3.285, 95% CI 1.856-5.815, p < 0.001) or alleles (OR 1.697, 95% CI 1.208-2.383, p = 0.002). In contrast, no significant differences were identified between rs2275294 and patients with PD. In conclusion, our case-control study suggests that the CC genotype and C allele at rs2275294 are associated with increased risk of ALS in Han Chinese, particularly females.
authors: a Department of Neurology , West China Hospital, Sichuan University , Chengdu, Sichuan Province , PR China.
authors: Xinglong
authors: X
authors: Yang
authors: a Department of Neurology , West China Hospital, Sichuan University , Chengdu, Sichuan Province , PR China.
authors: Quanzhen
authors: Q
authors: Zhao
authors: a Department of Neurology , West China Hospital, Sichuan University , Chengdu, Sichuan Province , PR China.
authors: Ran
authors: R
authors: An
authors: a Department of Neurology , West China Hospital, Sichuan University , Chengdu, Sichuan Province , PR China.
authors: Jinhua
authors: J
authors: Zheng
authors: a Department of Neurology , West China Hospital, Sichuan University , Chengdu, Sichuan Province , PR China.
authors: Sijia
authors: S
authors: Tian
authors: a Department of Neurology , West China Hospital, Sichuan University , Chengdu, Sichuan Province , PR China.
authors: Yanming
authors: Y
authors: Xu
mesh_terms: D000328:Adult; D017677:Age Distribution; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology* / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D015897:Comorbidity; D005260:Female; D056726:Genetic Association Studies; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000453:epidemiology* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D015203:Reproducibility of Results; D018570:Risk Assessment / Q000379:methods; D012680:Sensitivity and Specificity; D017678:Sex Distribution
chemical_list: D002352:Carrier Proteins; D005819:Genetic Markers; C554937:ZNF512B protein, human
keywords: Amyotrophic lateral sclerosis; Parkinson's disease; TGF-β; ZNF512B; gene polymorphism