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Gene-Based Rare Allele Analysis Identified a Risk Gene of Alzheimer’s Disease

Author

Listed:
  • Jong Hun Kim
  • Pamela Song
  • Hyunsun Lim
  • Jae-Hyung Lee
  • Jun Hong Lee
  • Sun Ah Park
  • for the Alzheimer’s Disease Neuroimaging Initiative

Abstract

Alzheimer’s disease (AD) has a strong propensity to run in families. However, the known risk genes excluding APOE are not clinically useful. In various complex diseases, gene studies have targeted rare alleles for unsolved heritability. Our study aims to elucidate previously unknown risk genes for AD by targeting rare alleles. We used data from five publicly available genetic studies from the Alzheimer’s Disease Neuroimaging Initiative (ADNI) and the database of Genotypes and Phenotypes (dbGaP). A total of 4,171 cases and 9,358 controls were included. The genotype information of rare alleles was imputed using 1,000 genomes. We performed gene-based analysis of rare alleles (minor allele frequency≤3%). The genome-wide significance level was defined as meta P

Suggested Citation

  • Jong Hun Kim & Pamela Song & Hyunsun Lim & Jae-Hyung Lee & Jun Hong Lee & Sun Ah Park & for the Alzheimer’s Disease Neuroimaging Initiative, 2014. "Gene-Based Rare Allele Analysis Identified a Risk Gene of Alzheimer’s Disease," PLOS ONE, Public Library of Science, vol. 9(10), pages 1-8, October.
    • Handle: RePEc:plo:pone00:0107983
    DOI: 10.1371/journal.pone.0107983
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