title: BIN1 gene rs744373 polymorphism contributes to Alzheimer's disease in East Asian population.
abstract: Large-scale genome-wide association studies (GWAS) identified BIN1 gene rs744373 polymorphism to be significantly associated with Alzheimer's disease (AD) in Caucasian ancestry. Recently, this polymorphism was also investigated in East Asian population. However, no study reported significant association. We consider that the failure to replicate significant association between rs744373 polymorphism and AD may be caused by the relatively small sample size. In this research, we evaluated this association using pooled samples from previous studies (n=4982, 1437 AD cases and 3545 controls). Two methods including pooled analysis and meta-analysis were used to investigate the association. Using the pooled analysis, we observed significant association between rs744373 polymorphism and AD by both genotype test (P=3.94E-03, 4.59E-03 and 1.04E-02) and allele test (P=1.12E-03, OR=1.16, 95% CI 1.06-1.28). Interestingly, the meta-analysis confirmed this association with P=8.00E-03 (OR=1.14, 95% CI 1.03-1.25) and P=2.00E-02 (OR=1.16, 95% CI 1.02-1.32). We also evaluated the effect of rs744373 polymorphism on AD risk in different ethnic backgrounds and found that rs744373 polymorphism contributed to AD with similar genetic risk in East Asian and Caucasian populations. To our knowledge, this is the first study to show significant association between rs744373 polymorphism and AD in East Asian population.
authors.affiliation: Institute of Neurology, Guangdong Medical College, Zhanjiang 524001, China.
authors.forename: Guiyou
authors.initials: G
authors.lastname: Liu
authors.forename: Shuyan
authors.initials: S
authors.lastname: Zhang
authors.forename: Zhiyou
authors.initials: Z
authors.lastname: Cai
authors.forename: You
authors.initials: Y
authors.lastname: Li
authors.forename: Lili
authors.initials: L
authors.lastname: Cui
authors.forename: Guoda
authors.initials: G
authors.lastname: Ma
authors.forename: Yongshuai
authors.initials: Y
authors.lastname: Jiang
authors.forename: Liangcai
authors.initials: L
authors.lastname: Zhang
authors.forename: Rennan
authors.initials: R
authors.lastname: Feng
authors.forename: Mingzhi
authors.initials: M
authors.lastname: Liao
authors.forename: Zugen
authors.initials: Z
authors.lastname: Chen
authors.forename: Bin
authors.initials: B
authors.lastname: Zhao
authors.forename: Keshen
authors.initials: K
authors.lastname: Li
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000544:Alzheimer Disease / Q000208:ethnology* / Q000235:genetics*; D005202:Asia, Eastern / Q000453:epidemiology; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000208:ethnology* / Q000235:genetics*; D006801:Humans; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D012307:Risk Factors; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D044465:White People / Q000706:statistics & numerical data*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C101410:BIN1 protein, human; D005819:Genetic Markers; D009687:Nuclear Proteins; D025521:Tumor Suppressor Proteins