title: Genetic association of CUGBP2 and DNMBP with Alzheimer' s disease in the Chinese Han population.
abstract: OBJECTIVE
  Recently, candidate genetic studies revealed the single nucleotide polymorphisms (SNPs) of CUGBP2 (rs2242451) and DNMBP (rs11190305 and rs3740058) associated with Alzheimer's disease (AD). Due to genetic heterogeneity and different ethnic background, the purpose of our study was to confirm the association between these 3 SNPs with AD risk in the Chinese Han population.
  
  
  METHODS
  We investigated 482 sporadic AD (SAD) patients and 813 unrelated cognitive normal controls of the Chinese Han population. The genotypes of the 3 SNPs (rs2242451, rs11190305, rs3740058) were carried out by MassARRAY iPLEX system.
  
  
  RESULTS
  The genotype and the allele frequency of rs2242451 were significantly different between AD and control group in total subject (genotype: p=0.019, allele frequency: p=0.022, OR=0.760, 95%CI=0.601- 0.962) with A allele decreasing AD risk. After stratification by age at onset, gender, APOE ε4 carrying status and homozygous APOE ε4, the protective effect of A allele remained in female and APOE ε4ε4 non-carrying subgroups. The rs3740058 in DNMBP was significantly differently in genotype between AD and control in APOE ε4ε4 subgroup, but showed no effect on AD risk, either did rs11190305 polymorphisms in DNMBP. Meta-analysis was performed in rs11190305 and rs3740058 of DNMBP respectively. Positive relationship with AD was found in rs11190305 (OR=1.11, 95%CI=1.01-1.21), but not in rs3740058 (OR=1.05, 95%CI=0.98-1.13). Moreover, the genotypes of these 3 SNPs had no effect on age at onset of AD.
  
  
  CONCLUSIONS
  The A allele of rs2242451 in CUGBP2 might decrease SAD risk in the Chinese Han population.
authors: Ping
authors: P
authors: Yang
authors: Miao
authors: M
authors: Xu
authors: Zhi- Jun
authors: Z
authors: Liu
authors: Qing- Qing
authors: Q
authors: Tao
authors: Shen- Ji
authors: S
authors: Lu
authors: Hong- Lei
authors: H
authors: Li
authors: Qi- Hao
authors: Q
authors: Guo
authors: Yi- Min
authors: Y
authors: Sun
authors: Department of Neurology and Research Center of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, 88 Jiefang Road, Hangzhou, 310009, China. zhiyingwu@zju.edu.cn.
authors: Zhi- Ying
authors: Z
authors: Wu
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000208:ethnology / Q000235:genetics*; D044466:Asian People / Q000208:ethnology / Q000235:genetics; D000067878:CELF Proteins / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D000067878:CELF Proteins; C117363:CELF2 protein, human; D003598:Cytoskeletal Proteins; C482331:DNMBP protein, human; D009419:Nerve Tissue Proteins