Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease

Nobuto Shibata, Toshitaka Kawarai, Joseph H. Lee, Hye Seung Lee, Eri Shibata, Christine Sato, Yan Liang, Rajan Duara, Richard P. Mayeux, Peter H. St George-Hyslop, Ekaterina Rogaeva

Research output: Contribution to journalArticlepeer-review

57 Scopus citations


Recent studies have demonstrated that cholesterol metabolism has an important role in Alzheimer's disease (AD) pathogenesis, suggesting that cholesterol-related genes may be significant genetic risk factors for AD. Based on the results of genome-wide screens, along with biological studies, we selected three genes as candidates for AD risk factors: ATP-binding cassette transporter A1 (ABCA1), cholesterol 25-hydroxylase (CH25H) and cholesterol 24-hydroxylase (CH24H). Case-control of North American Caucasians and AD families of Caribbean Hispanic origin were examined. Although excellent biological candidates, the case-control dataset did not support the hypothesis that these three genes were associated with susceptibility to AD. Similarly, no association was found in the Caribbean Hispanic families for CH25H. However, we did observe a possible interaction between ABCA1 and APOE in the Hispanics.

Original languageEnglish (US)
Pages (from-to)142-146
Number of pages5
JournalNeuroscience Letters
Issue number3
StatePublished - Jan 2 2006
Externally publishedYes


  • Alzheimer's disease
  • Cholesterol
  • Risk factor
  • Single nucleotide polymorphism

ASJC Scopus subject areas

  • Neuroscience(all)


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