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Neurobiol Aging. 2014 Jul;35(7):1781.e1-8. doi: 10.1016/j.neurobiolaging.2014.01.151. Epub 2014 Feb 6.

Genetic variation in BIN1 gene and Alzheimer's disease risk in Han Chinese individuals.

Author information

  • 1School of Medicine and Pharmaceutics, Ocean University of China, Qingdao, China.
  • 2School of Medicine and Pharmaceutics, Ocean University of China, Qingdao, China; Department of Neurology, Qingdao Municipal Hospital, Nanjing Medical University, Qingdao, China; Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao, China. Electronic address: yu-jintai@163.com.
  • 3Department of Neurology, Qingdao Municipal Hospital, Nanjing Medical University, Qingdao, China.
  • 4School of Medicine and Pharmaceutics, Ocean University of China, Qingdao, China; Department of Neurology, Qingdao Municipal Hospital, Nanjing Medical University, Qingdao, China; Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao, China. Electronic address: dr.tanlan@163.com.

Abstract

Genome-wide association studies have identified the bridging integrator 1 (BIN1) gene as the most important genetic susceptibility locus in late-onset Alzheimer's disease (LOAD) after apolipoprotein E for individuals of European ancestry. To further characterize this association and to isolate the variants within BIN1 contributing to LOAD in Han Chinese individuals, we conducted a 2-step design study in our cohort of 1133 LOAD patients and 1159 control subjects. Sequencing analysis identified 44 variants within BIN1. Follow-up genotyping analysis revealed that a novel missense mutation P318L appeared to exert risk effect for development of LOAD; and rs67327804 was also significantly associated with LOAD risk even after adjusting for age, gender, and apolipoprotein E ε4 status. Haplotype analysis confirmed that the "GA" haplotype derived from single-nucleotide polymorphisms in rs67327804 and rs1060743 showed a 1.4-fold increased risk of LOAD. Our findings provided the first independent evidence that variants in BIN1 were significantly associated with LOAD in Han Chinese individuals.

Copyright © 2014 Elsevier Inc. All rights reserved.

KEYWORDS:

Alzheimer's disease; Association study; Bridging integrator 1; Polymorphism; Susceptibility

PMID:
24582639
[PubMed - indexed for MEDLINE]
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