Polymorphisms in the human apolipoprotein-J/clusterin gene: Ethnic variation and distribution in Alzheimer's disease

Benjamin Tycko, Lin Feng, Lan Nguyen, Aren Francis, Allison Hays, Wai Yee Chung, Ming Xin Tang, Yaakov Stern, Amrik Sahota, Hugh Hendrie, Richard Mayeux

Research output: Contribution to journalArticle

51 Scopus citations

Abstract

Apolipoprotein-J/clusterin (APOJ/CLI) shares many biological properties with apolipoprotein-E (APOE) including, but not limited to, avid binding with β-amyloid peptide. Thus, APOJ/CLI warrants scrutiny as a candidate Alzheimer's disease (AD) susceptibility gene. We identified seven nucleotide sequence polymorphisms in APOJ/ CLI, two of which, in exon 7, alter the predicted amino acid sequence. The JVIIB variant is an asparagine-to-histidine substitution, which deletes a glycosylation signal at amino acid 317; the JVIIC variant is an aspartate-to-asparagine substitution, which forms a new glycosylation signal at position 328. Both of these coding variants, as well as two neutral polymorphisms in exon 2, were more frequent in African-Americans than Hispanics and were rare in Caucasians. However, no individual coding or non-coding variant was consistently associated with AD, At the population level, APOJ/CLI polymorphisms are frequent among persons of African descent, but probably do not alter susceptibility to AD.

Original languageEnglish (US)
Pages (from-to)430-436
Number of pages7
JournalHuman genetics
Volume98
Issue number4
DOIs
StatePublished - 1996

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Tycko, B., Feng, L., Nguyen, L., Francis, A., Hays, A., Chung, W. Y., Tang, M. X., Stern, Y., Sahota, A., Hendrie, H., & Mayeux, R. (1996). Polymorphisms in the human apolipoprotein-J/clusterin gene: Ethnic variation and distribution in Alzheimer's disease. Human genetics, 98(4), 430-436. https://doi.org/10.1007/s004390050234