Cited by 61Alzheimer's disease research and treatmentsClusterin in disease pathologyDementia and Cognitive Impairment Research

The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.

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

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Abstract

Apolipoprotein-J/clusterin (APOJ/CLI) shares many biological properties with apolipoprotein-E (APOE) including, but not limited to, avid binding with beta-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, after 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 noncoding 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.

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Crossref · 10.1007/s004390050234

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  • The BIN1 and DAB1 genes are noteworthy loci implicated by the data.

    “Also noteworthy are the bridging integrator 1 (BIN1) gene, which produces a protein involved in synaptic vesicle endoctyosis 13 , and the disabled homolog 1 (DAB1) gene, whose product is involved with tyrosine phosphorylation and microtubule function in neurons 14 .”

    From Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease (2009) · cites this paper as [13]

    The Discussion (p. 6) examines APOJ/clusterin polymorphisms and Alzheimer’s disease susceptibility, not BIN1 or DAB1. Searches of our copy for both genes and their stated neuronal functions found no passage addressing the attributed claim. (LLM, conf=0.75)

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Research works printed but not linked: 2

  1. Strittmatter WJ, Saunders AM, Schmechel D, Pericak-Vance M, Enghild J, Salvesen GS, Roses A (1992) Apolipoprotein E: high-avidity binding to b -amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Nat Acad Sci USA 90:1977-1981
  2. Terwilliger JD, Ott J (1994) Handbook of genetic linkage. Johns Hopkins University Press, Baltimore, pp 199-210

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Metadata

Authors
Tycko, B., Feng, L., Nguyen, L., Francis, A., Hays, A., Chung, W.-Y., Tang, M.-X., Stern, Y., Sahota, A., Hendrie, H., & Mayeux, R.
Affiliations
  • Columbia University Irving Medical Center (US)
  • Columbia University (US)
  • Indiana University School of Medicine (US)
Venue
Human Genetics
Published
1996-08-22
Volume
98
Issue
4
Pages
430-436
ISSN
  • 0018-7348 (ISSN-L)
  • 0340-6717
  • 1432-1203
OpenAlex
W2144429901
Cited by
61
References
3
Citations by year
2024: 1 · 2021: 2 · 2020: 1 · 2019: 1 · 2017: 1 · 2016: 1 · 2015: 1 · 2014: 1 · 2013: 4 · 2012: 4
FWCI
1.75
Type
journal article
Language
en
Open access
Locations
  • Human Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • Columbia Academic Commons (Columbia University)
Funders
  • National Institutes of Health
  • National Institute on Aging (AG08702, P01AG007232, AG 07232, P50AG008702, AG10963, R35AG010963, U24AG021886)
Topics
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
  • Health Sciences › Medicine › Oncology › Clusterin in disease pathology
  • Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
Keywords
Alzheimer's disease, genetic polymorphism, genetic susceptibility, exon 7, ethnic differences, African Americans, Hispanic Americans, Caucasians, apolipoprotein E
MeSH terms
Alzheimer Disease, Amino Acid Sequence, Asparagine, Base Sequence, Black or African American, Disease Susceptibility, Ethnicity, Exons, Glycoproteins, Glycosylation, Hispanic or Latino, Histidine, Humans, Molecular Sequence Data, Polymorphism, Genetic, United States, Genetic Variation, Polymerase Chain Reaction, Point Mutation, DNA Primers, Polymorphism, Single-Stranded Conformational, Molecular Chaperones, Black People, White People, Clusterin

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