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Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE epsilon 4 carriers.
Am J Med Genet B Neuropsychiatr Genet. 2003 May 15; 119B(1):44-7.AJ

Abstract

Alzheimer disease (AD) is characterized neuropathologically by neurofibrillary tangles and senile plaques. A key component of plaques is A beta, a polypeptide derived from A beta-precursor protein (APP) through proteolytic cleavage catalyzed by beta and gamma-secretase. We hypothesized that sequence variation in genes BACE1 (on chromosome 11q23.3) and BACE2 (on chromosome 21q22.3), which encode two closely related proteases that seem to act as the APP beta-secretase, may represent a genetic risk factor for AD. We analyzed the frequencies of single nucleotide polymorphisms (SNPs) in BACE1 and BACE2 genes in a community-based sample of 96 individuals with late-onset AD and 170 controls selected randomly among residents of the same community. The genotype data in both study groups did not demonstrate any association between AD and BACE1 or BACE2. After stratification for APOE status, however, an association between a BACE1 polymorphism located within codon V262 and AD in APOE epsilon 4 carriers was observed (P = 0.03). We conclude that sequence variation in the BACE1 or BACE 2 gene is not a significant risk factor for AD; however, a combination of a specific BACE1 allele and APOE epsilon 4 may increase the risk for Alzheimer disease over and above that attributed to APOE epsilon 4 alone.

Authors+Show Affiliations

Department of Geriatrics, Belle-Idée Hospital Center, University Hospitals of Geneva, Geneva, Switzerland.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

12707937

Citation

Gold, Gabriel, et al. "Specific BACE1 Genotypes Provide Additional Risk for Late-onset Alzheimer Disease in APOE Epsilon 4 Carriers." American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, vol. 119B, no. 1, 2003, pp. 44-7.
Gold G, Blouin JL, Herrmann FR, et al. Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE epsilon 4 carriers. Am J Med Genet B Neuropsychiatr Genet. 2003;119B(1):44-7.
Gold, G., Blouin, J. L., Herrmann, F. R., Michon, A., Mulligan, R., Duriaux Saïl, G., Bouras, C., Giannakopoulos, P., & Antonarakis, S. E. (2003). Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE epsilon 4 carriers. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 119B(1), 44-7.
Gold G, et al. Specific BACE1 Genotypes Provide Additional Risk for Late-onset Alzheimer Disease in APOE Epsilon 4 Carriers. Am J Med Genet B Neuropsychiatr Genet. 2003 May 15;119B(1):44-7. PubMed PMID: 12707937.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE epsilon 4 carriers. AU - Gold,Gabriel, AU - Blouin,Jean-Louis, AU - Herrmann,François R, AU - Michon,Agnès, AU - Mulligan,Reinhild, AU - Duriaux Saïl,Geneviève, AU - Bouras,Constantin, AU - Giannakopoulos,Panteleimon, AU - Antonarakis,Stylianos E, PY - 2003/4/23/pubmed PY - 2004/2/10/medline PY - 2003/4/23/entrez SP - 44 EP - 7 JF - American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics JO - Am. J. Med. Genet. B Neuropsychiatr. Genet. VL - 119B IS - 1 N2 - Alzheimer disease (AD) is characterized neuropathologically by neurofibrillary tangles and senile plaques. A key component of plaques is A beta, a polypeptide derived from A beta-precursor protein (APP) through proteolytic cleavage catalyzed by beta and gamma-secretase. We hypothesized that sequence variation in genes BACE1 (on chromosome 11q23.3) and BACE2 (on chromosome 21q22.3), which encode two closely related proteases that seem to act as the APP beta-secretase, may represent a genetic risk factor for AD. We analyzed the frequencies of single nucleotide polymorphisms (SNPs) in BACE1 and BACE2 genes in a community-based sample of 96 individuals with late-onset AD and 170 controls selected randomly among residents of the same community. The genotype data in both study groups did not demonstrate any association between AD and BACE1 or BACE2. After stratification for APOE status, however, an association between a BACE1 polymorphism located within codon V262 and AD in APOE epsilon 4 carriers was observed (P = 0.03). We conclude that sequence variation in the BACE1 or BACE 2 gene is not a significant risk factor for AD; however, a combination of a specific BACE1 allele and APOE epsilon 4 may increase the risk for Alzheimer disease over and above that attributed to APOE epsilon 4 alone. SN - 1552-4841 UR - https://www.unboundmedicine.com/medline/citation/12707937/Specific_BACE1_genotypes_provide_additional_risk_for_late_onset_Alzheimer_disease_in_APOE_epsilon_4_carriers_ L2 - https://doi.org/10.1002/ajmg.b.10010 DB - PRIME DP - Unbound Medicine ER -