{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T04:18:03Z","timestamp":1784002683078,"version":"3.55.0"},"reference-count":37,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2000,10,1]]},"abstract":"<jats:p>Alzheimer's disease (AD) and Parkinson's disease (PD) are genetically heterogeneous. Dipeptidyl carboxypeptidase 1 (<jats:italic>DCP1<\/jats:italic>) and butyrylcholinesterase (<jats:italic>BCHE<\/jats:italic>) genes may modify the risk of these disorders. We investigated whether common polymorphisms present in these genes operate as risk factors for AD and PD in Finnish subjects, independently or in concert with the apolipoprotein E \u03b54 allele (<jats:italic>APOE <\/jats:italic>\u03b54). Eighty late onset sporadic AD patients, 53 PD patients (34 of whom had concomitant AD pathology), and 67 control subjects were genotyped for the insertion (I)\/deletion (D) polymorphism of <jats:italic>DCP1 <\/jats:italic>and the K variant of<jats:italic>BCHE<\/jats:italic>. In logistic regression analysis, the<jats:italic>DCP1 <\/jats:italic>*I allele in combination with<jats:italic>APOE<\/jats:italic> \u03b54 significantly increased the risk of AD (OR 30.0, 95% CI 7.3-123.7), compared to subjects carrying neither of the alleles. Similar analysis showed that the risk of AD was significantly increased in subjects carrying both the<jats:italic>BCHE<\/jats:italic> wild type (*WT\/*WT) genotype and \u03b54 (OR 9.9, 95% CI 2.9-33.8), compared to those without this<jats:italic>BCHE<\/jats:italic> genotype and \u03b54. Further, the risk of PD with AD pathology was significantly increased for carriers of<jats:italic>DCP1 <\/jats:italic>*I and \u03b54 (OR 8.0, 95% CI 2.1-31.1). We thus conclude that, in Finns, interaction between<jats:italic>DCP1 <\/jats:italic>*I and \u03b54 increases the risk of AD as well as of PD with coexisting Alzheimer pathology, which underlines the importance of the <jats:italic>DCP1<\/jats:italic> I\/D polymorphism in the development of Alzheimer neuropathology, whereas the wild type<jats:italic>BCHE<\/jats:italic> genotype in combination with \u03b54 had a combined effect with regard to the risk of AD.<\/jats:p>","DOI":"10.1136\/jmg.37.10.766","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:37:59Z","timestamp":1027751879000},"page":"766-770","source":"Crossref","is-referenced-by-count":37,"title":["Dipeptidyl carboxypeptidase 1 (<i>DCP1<\/i>) and butyrylcholinesterase (<i>BCHE<\/i>) gene interactions with the apolipoprotein E \u03b54 allele as risk factors in Alzheimer's disease and in Parkinson's disease with coexisting Alzheimer pathology"],"prefix":"10.1136","volume":"37","author":[{"given":"Kari M","family":"Mattila","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juha O","family":"Rinne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matias","family":"R\u00f6ytt\u00e4","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pekka","family":"Laippala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timo","family":"Pietil\u00e4","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannu","family":"Kalimo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timo","family":"Koivula","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harry","family":"Frey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terho","family":"Lehtim\u00e4ki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2000,10,1]]},"reference":[{"key":"2025101721500612000_37.10.766.1","doi-asserted-by":"crossref","first-page":"560","DOI":"10.3109\/07853899809002605","article-title":"Molecular genetics of Alzheimer's disease.","volume":"30","author":"Cruts","year":"1998","journal-title":"Ann Med"},{"key":"2025101721500612000_37.10.766.2","doi-asserted-by":"publisher","DOI":"10.1016\/S0753-3322(99)80075-4"},{"key":"2025101721500612000_37.10.766.3","doi-asserted-by":"crossref","first-page":"1485","DOI":"10.1096\/fasebj.10.13.8940294","article-title":"Human apolipoprotein E: the Alzheimer's disease connection.","volume":"10","author":"Weisgraber","year":"1996","journal-title":"FASEB J"},{"key":"2025101721500612000_37.10.766.4","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1007\/s004010050913","article-title":"Apolipoprotein E \u00ce\u00b54 allele frequency is increased in Parkinson's disease only with co-existing Alzheimer pathology.","volume":"96","author":"Mattila","year":"1998","journal-title":"Acta Neuropathol"},{"key":"2025101721500612000_37.10.766.5","doi-asserted-by":"publisher","DOI":"10.1007\/s004150050258"},{"key":"2025101721500612000_37.10.766.6","first-page":"635","article-title":"Genetic polymorphisms in Parkinson's disease.","volume":"19","author":"Checkoway","year":"1998","journal-title":"Neurotoxicology"},{"key":"2025101721500612000_37.10.766.7","doi-asserted-by":"publisher","DOI":"10.1038\/ng0194-29"},{"key":"2025101721500612000_37.10.766.8","doi-asserted-by":"publisher","DOI":"10.1038\/5009"},{"key":"2025101721500612000_37.10.766.9","doi-asserted-by":"publisher","DOI":"10.1159\/000008012"},{"key":"2025101721500612000_37.10.766.10","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.11.1933"},{"key":"2025101721500612000_37.10.766.11","doi-asserted-by":"crossref","first-page":"1818","DOI":"10.1016\/S0140-6736(05)78788-2","article-title":"Butyrylcholinesterase K: an association with dementia with Lewy bodies.","volume":"351","author":"Singleton","year":"1998","journal-title":"Lancet"},{"key":"2025101721500612000_37.10.766.12","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1212\/WNL.34.7.939","article-title":"Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease.","volume":"34","author":"McKhann","year":"1984","journal-title":"Neurology"},{"key":"2025101721500612000_37.10.766.13","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1212\/WNL.41.4.479","article-title":"The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). 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