{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T07:23:07Z","timestamp":1772781787342,"version":"3.50.1"},"reference-count":30,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2000,3,1]]},"abstract":"<jats:p>Alzheimer's disease (AD) is a progressive neurodegenerative disorder that has been associated, sometimes controversially, with polymorphisms in a number of genes. Recently the butyrylcholinesterase K variant (BCHE K) allele has been shown to act in synergy with the apolipoprotein E \u03b54 (APOE \u03b54) allele to promote risk for AD. Most subsequent replicative studies have been unable to confirm these findings. We have conducted a case-control association study using a clinically well defined group of late onset AD patients (n=175) and age and sex matched control subjects (n=187) from the relatively genetically homogeneous Northern Ireland population to test this association. The BCHE genotypes of patients were found to be significantly different from controls (\u03c7<jats:sup>2<\/jats:sup>=23.68, df=2, p&lt;&lt;0.001). The frequency of the K variant allele was also found to differ significantly in cases compared to controls (\u03c7<jats:sup>2<\/jats:sup>=16.39, df=1, p&lt;&lt;0.001) leading to an increased risk of AD in subjects with this allele (OR=3.50, 95% CI 2.20-6.07). This risk increased in subjects 75 years and older (OR=5.50, 95% CI 2.56-11.87). At the same time the APOE \u03b54 associated risk was found to decrease from 6.70 (95% CI 2.40-19.04) in 65-74 year olds to 3.05 (95% CI 1.34-6.95) in those subjects 75 years and older. However, we detected no evidence of synergy between BCHE K and APOE \u03b54. The results from this study suggest that possession of the BCHE K allele constitutes a significant risk for AD in the Northern Ireland population and, furthermore, this risk increases with increasing age.<\/jats:p>","DOI":"10.1136\/jmg.37.3.182","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:38:40Z","timestamp":1027751920000},"page":"182-185","source":"Crossref","is-referenced-by-count":44,"title":["Butyrylcholinesterase K variant is genetically associated with late onset Alzheimer's disease in Northern Ireland"],"prefix":"10.1136","volume":"37","author":[{"given":"S P","family":"McIlroy","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V L S","family":"Crawford","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K B","family":"Dynan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B M","family":"McGleenon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M D","family":"Vahidassr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J T","family":"Lawson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A P","family":"Passmore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2000,3,1]]},"reference":[{"key":"2025100520510992000_37.3.182.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0074-7742(08)60607-8"},{"key":"2025100520510992000_37.3.182.2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1985.04060100083029"},{"key":"2025100520510992000_37.3.182.3","first-page":"255","article-title":"Genetic heterogeneity of gene defects responsible for familial Alzheimer's disease.","volume":"91","author":"Tanzi","year":"1994","journal-title":"Genetics"},{"key":"2025100520510992000_37.3.182.4","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.11.4725"},{"key":"2025100520510992000_37.3.182.5","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.11.1933"},{"key":"2025100520510992000_37.3.182.6","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410420613"},{"key":"2025100520510992000_37.3.182.7","doi-asserted-by":"publisher","DOI":"10.1093\/ageing\/9.1.1"},{"key":"2025100520510992000_37.3.182.8","first-page":"1172","article-title":"Butyrylcholinesterase (BchE) alters the aggregation state of A\u03b2 amyloid.","volume":"22","author":"Barber","year":"1996","journal-title":"Soc Neurosci Abstr"},{"key":"2025100520510992000_37.3.182.9","first-page":"1086","article-title":"DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites.","volume":"50","author":"Bartels","year":"1992","journal-title":"Am J Hum Genet"},{"key":"2025100520510992000_37.3.182.10","first-page":"S69A","article-title":"Butyrylcholinesterase K variant (BCHE K): association with late-onset Alzheimer's disease.","volume":"19","author":"Sandbrink","year":"1998","journal-title":"Neurobiol Aging"},{"key":"2025100520510992000_37.3.182.11","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050929"},{"key":"2025100520510992000_37.3.182.12","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.5.933"},{"key":"2025100520510992000_37.3.182.13","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3940(98)00423-6"},{"key":"2025100520510992000_37.3.182.14","first-page":"309","article-title":"The butyrylcholinesterase K variant is not associated with Alzheimer's disease.","volume":"1","author":"Helbeque","year":"1998","journal-title":"Alz Rep"},{"key":"2025100520510992000_37.3.182.15","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1016\/S0304-3940(98)00453-4","article-title":"Butyrylcholinesterase K variant and apolipoprotein E4 genes do not act in synergy in Finnish late-onset Alzheimer's disease patients.","volume":"250","author":"Hiltunen","year":"1998","journal-title":"Neurosci Lett"},{"key":"2025100520510992000_37.3.182.16","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.12.1034"},{"key":"2025100520510992000_37.3.182.17","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.2.99"},{"key":"2025100520510992000_37.3.182.18","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1159\/000153581","article-title":"Plasma cholinesterase variants. 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