{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T15:10:28Z","timestamp":1770563428372,"version":"3.49.0"},"reference-count":25,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,3,4]],"date-time":"2003-03-04T00:00:00Z","timestamp":1046736000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2003,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Alzheimer disease (AD) is characterized neuropathologically by neurofibrillary tangles and senile plaques. A key component of plaques is A\u03b2, a polypeptide derived from A\u03b2\u2010precursor protein (APP) through proteolytic cleavage catalyzed by \u03b2 and \u03b3\u2010secretase. 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 \u03b2\u2010secretase, 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\u2010based sample of 96 individuals with late\u2010onset 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 \u03b54 carriers was observed (<jats:italic>P<\/jats:italic>\u2009=\u20090.03). 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 \u03b54 may increase the risk for Alzheimer disease over and above that attributed to APOE \u03b54 alone. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.10010","type":"journal-article","created":{"date-parts":[[2003,4,17]],"date-time":"2003-04-17T10:02:02Z","timestamp":1050573722000},"page":"44-47","source":"Crossref","is-referenced-by-count":29,"title":["Specific BACE1 genotypes provide additional risk for late\u2010onset alzheimer disease in APOE \u03b54 carriers"],"prefix":"10.1002","volume":"119B","author":[{"given":"Gabriel","family":"Gold","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Louis","family":"Blouin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fran\u00e7ois 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