{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1361981471280958080.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1006/bbrc.2000.2923"}},{"identifier":{"@type":"URI","@value":"https://api.elsevier.com/content/article/PII:S0006291X00929231?httpAccept=text/xml"}},{"identifier":{"@type":"URI","@value":"https://api.elsevier.com/content/article/PII:S0006291X00929231?httpAccept=text/plain"}},{"identifier":{"@type":"PMID","@value":"10873585"}},{"identifier":{"@type":"NAID","@value":"80011812964"}}],"dc:title":[{"@value":"Deficiency in Mitochondrial Aldehyde Dehydrogenase Increases the Risk for Late-Onset Alzheimer's Disease in the Japanese Population"}],"description":[{"notation":[{"@value":"Mitochondrial aldehyde dehydrogenase 2 (ALDH2) deficiency is caused by a mutant allele in the Mongoloids. To examine whether genetic constitutions affecting aldehyde metabolism influence the risk for late-onset Alzheimer's disease (LOAD), we performed a case-control study in the Japanese population on the deficiency in ALDH2 caused by the dominant-negative mutant allele of the ALDH2 gene (ALDH2*2). In a comparison of 447 patients with sex, age, and region matched nondemented controls, the genotype frequency carrying the ALDH2*2 allele was significantly higher in the patients than in the controls (48.1% vs 37.4%, P = 0.001). Logistic regression analysis indicates that carriage of the ALDH2*2 allele is an independent risk for LOAD of the epsilon4 allele of the apolipoprotein E gene (APOE-epsilon4) (P = 0.002). Moreover, the odds ratio for LOAD in carriers of the ALDH2*2 allele was almost twice that in noncarriers, irrespective of status with regard to the APOE-epsilon4 allele. Among patients homozygous for the APOE-epsilon4 allele, age at onset of LOAD was significantly lower in those with than without the ALDH2*2 allele. In addition, dosage of the ALDH2*2 allele significantly affected age at onset of patients homozygous for the APOE-epsilon4 allele. These results indicate that the ALDH2 deficiency is a risk for LOAD, synergistically acting with the APOE-epsilon4 allele."}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1381981471280958211","@type":"Researcher","foaf:name":[{"@value":"Kouzin Kamino"}]},{"@id":"https://cir.nii.ac.jp/crid/1381981471280958208","@type":"Researcher","foaf:name":[{"@value":"Keiko Nagasaka"}]},{"@id":"https://cir.nii.ac.jp/crid/1381981471280958082","@type":"Researcher","foaf:name":[{"@value":"Masaki Imagawa"}]},{"@id":"https://cir.nii.ac.jp/crid/1381981471280958084","@type":"Researcher","foaf:name":[{"@value":"Hideki Yamamoto"}]},{"@id":"https://cir.nii.ac.jp/crid/1381981471280958081","@type":"Researcher","foaf:name":[{"@value":"Hiroshi Yoneda"}]},{"@id":"https://cir.nii.ac.jp/crid/1381981471280958212","@type":"Researcher","foaf:name":[{"@value":"Akira Ueki"}]},{"@id":"https://cir.nii.ac.jp/crid/1381981471280958083","@type":"Researcher","foaf:name":[{"@value":"Shin Kitamura"}]},{"@id":"https://cir.nii.ac.jp/crid/1381981471280958209","@type":"Researcher","foaf:name":[{"@value":"Kazuhiko Namekata"}]},{"@id":"https://cir.nii.ac.jp/crid/1381981471280958080","@type":"Researcher","foaf:name":[{"@value":"Tetsuro Miki"}]},{"@id":"https://cir.nii.ac.jp/crid/1381981471280958210","@type":"Researcher","foaf:name":[{"@value":"Shigeo Ohta"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"0006291X"}],"prism:publicationName":[{"@value":"Biochemical and Biophysical Research Communications"}],"dc:publisher":[{"@value":"Elsevier BV"}],"prism:publicationDate":"2000-06","prism:volume":"273","prism:number":"1","prism:startingPage":"192","prism:endingPage":"196"},"reviewed":"false","dc:rights":["https://www.elsevier.com/tdm/userlicense/1.0/","https://www.elsevier.com/legal/tdmrep-license"],"url":[{"@id":"https://api.elsevier.com/content/article/PII:S0006291X00929231?httpAccept=text/xml"},{"@id":"https://api.elsevier.com/content/article/PII:S0006291X00929231?httpAccept=text/plain"}],"createdAt":"2002-09-16","modifiedAt":"2025-09-13","foaf:topic":[{"@id":"https://cir.nii.ac.jp/all?q=Male","dc:title":"Male"},{"@id":"https://cir.nii.ac.jp/all?q=Genotype","dc:title":"Genotype"},{"@id":"https://cir.nii.ac.jp/all?q=Apolipoprotein%20E4","dc:title":"Apolipoprotein E4"},{"@id":"https://cir.nii.ac.jp/all?q=Gene%20Dosage","dc:title":"Gene Dosage"},{"@id":"https://cir.nii.ac.jp/all?q=Apolipoproteins%20E","dc:title":"Apolipoproteins E"},{"@id":"https://cir.nii.ac.jp/all?q=Gene%20Frequency","dc:title":"Gene Frequency"},{"@id":"https://cir.nii.ac.jp/all?q=Japan","dc:title":"Japan"},{"@id":"https://cir.nii.ac.jp/all?q=Alzheimer%20Disease","dc:title":"Alzheimer Disease"},{"@id":"https://cir.nii.ac.jp/all?q=Odds%20Ratio","dc:title":"Odds Ratio"},{"@id":"https://cir.nii.ac.jp/all?q=Humans","dc:title":"Humans"},{"@id":"https://cir.nii.ac.jp/all?q=Genetic%20Predisposition%20to%20Disease","dc:title":"Genetic Predisposition to Disease"},{"@id":"https://cir.nii.ac.jp/all?q=Age%20of%20Onset","dc:title":"Age of Onset"},{"@id":"https://cir.nii.ac.jp/all?q=Alleles","dc:title":"Alleles"},{"@id":"https://cir.nii.ac.jp/all?q=Aged","dc:title":"Aged"},{"@id":"https://cir.nii.ac.jp/all?q=Genes,%20Dominant","dc:title":"Genes, Dominant"},{"@id":"https://cir.nii.ac.jp/all?q=Aged,%2080%20and%20over","dc:title":"Aged, 80 and over"},{"@id":"https://cir.nii.ac.jp/all?q=Aldehyde%20Dehydrogenase,%20Mitochondrial","dc:title":"Aldehyde Dehydrogenase, 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