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Genetic polymorphism in the cathepsin G gene and the risk of Alzheimer's disease
Abstract
Alzheimer's disease (AD) is a complex disease with the possible involvement of several genes. The APOE*4 allele has been documented to be a major risk factor for sporadic late-onset AD, but it is neither necessary nor sufficient to cause the disease. Cathepsin G, a serine protease found commonly in the azurophillic granules of neutrophils, has been reported to possess some beta-secretase like properties, and thus may be involved in the processing of amyloid precursor protein (APP). Recently, an A-->G polymorphism has been reported in exon 4 of the cathepsin G gene, which changes the codon AAC ((125) Asp) to AGC ((125)Ser). In this study, we have investigated the association of this polymorphism with sporadic late-onset AD. We screened DNA samples from 464 late-onset AD cases and 310 age-matched controls. No significant association was seen between this polymorphism and AD. When the data were stratified by the APOE*4 carrier status, no significant difference was seen either. Our data show no effect of this cathepsin G polymorphism in AD. Characterization of additional polymorphisms in this gene may provide more conclusive answers.
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Polymorphisms in several lysosomal cathepsin genes are associated with increased AD susceptibility.
“Genetic studies further support lysosomal involvement, as polymorphisms in several lysosomal cathepsin genes are associated with increased AD susceptibility (Bhojak et al. 2001), (Papassotiropoulos et al. 1999).”
From TMEM55B downregulation promotes neurodegeneration in Alzheimer’s disease models (2026) · cites this paper as Bhojak et al. 2001
Cathepsin polymorphisms increase AD risk, whereas cystatin B/C deletion improves phenotypes.
“Cathepsin polymorphisms increase AD risk (Bhojak et al. 2001), (Papassotiropoulos et al. 1999), whereas cystatin B/C deletion improves phenotypes (Mi et al. 2007), (Yang et al. 2011), (Yang et al. 2014).”
From TMEM55B downregulation promotes neurodegeneration in Alzheimer’s disease models (2026) · cites this paper as Bhojak et al. 2001
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Research works printed but not linked: 23
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Sorted by citations
TMEM55B downregulation promotes neurodegeneration in Alzheimer’s disease models
Roy, B., Contu, V. R., Jeziorek, M., Friedman, W. J., & Wong, C.-O. (2026) · doi:10.64898/2026.10.21.760809
Metadata
- Authors
- Bhojak, T. J., DeKosky, S. T., Ganguli, M., & Kamboh, M. I.
- Venue
- Neuroscience Letters
- Publisher
- Elsevier BV
- Published
- 2001-08
- Volume
- 309
- Issue
- 2
- Pages
- 138-140
- ISSN
- 0304-3940
- Cited by
- 11
- References
- 0
- Language
- en
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