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
Open accessAbstract
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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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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Candidate gene for the chromosome 1 familial Alzheimer’s disease locus
Levy-Lahad, E., Wasco, W., Poorkaj, P., Romano, D. M., Oshima, J., Pettingell, W. H., Yu, C.-E., Jondro, P. D., Schmidt, S. D., Wang, K., et al. (1995) · Science · doi:10.1126/science.7638622 · Cited by 2,577
May, P. C., Lampert-Etchells, M., Johnson, S. A., Poirier, J., Masters, J. N., & Finch, C. E. (1990) · Neuron · doi:10.1016/0896-6273(90)90342-d · Cited by 339
Ghiso, J., Matsubara, E., Koudinov, A., Choi-Miura, N. H., Tomita, M., Wisniewski, T., & Frangione, B. (1993) · Biochemical Journal · doi:10.1042/bj2930027 · Cited by 304
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Research works printed but not linked: 2
- 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
- Terwilliger JD, Ott J (1994) Handbook of genetic linkage. Johns Hopkins University Press, Baltimore, pp 199-210
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Harold, D., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., Pahwa, J. S., Moskvina, V., Dowzell, K., Williams, A., et al. (2009) · Nature Genetics · doi:10.1038/ng.440 · Cited by 3,326
Genome-wide association studies in Alzheimer’s disease
Bertram, L., & Tanzi, R. E. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp406 · Cited by 257
Plasma clusterin and the risk of Alzheimer disease
Schrijvers, E. M. C. (2011) · JAMA · doi:10.1001/jama.2011.381 · Cited by 220
Lee, J. H., Cheng, R., Barral, S., Reitz, C., Medrano, M., Lantigua, R., Jiménez-Velazquez, I. Z., Rogaeva, E., St. George-Hyslop, P. H., & Mayeux, R. (2011) · Archives of Neurology · doi:10.1001/archneurol.2010.292 · Cited by 190
Self-citationThe pursuit of susceptibility genes for Alzheimer's disease: progress and prospects
Sleegers, K., Lambert, J.-C., Bertram, L., Cruts, M., Amouyel, P., & Van Broeckhoven, C. (2010) · Trends in Genetics · doi:10.1016/j.tig.2009.12.004 · Cited by 129
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
- green
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- 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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