{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T10:02:46Z","timestamp":1780480966872,"version":"3.54.1"},"reference-count":27,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2020,3,20]],"date-time":"2020-03-20T00:00:00Z","timestamp":1584662400000},"content-version":"vor","delay-in-days":79,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"European Union\u2019s Horizon 2020 research"},{"name":"Memorabel supported by The Netherlands Organization for the Health Research and Development"},{"name":"Erasmus Medical Center and Erasmus University, Rotterdam, ZonMw"},{"name":"Research Institute for Diseases in the Elderly"},{"DOI":"10.13039\/501100005992","name":"Ministry of Education, Culture and Science","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100005992","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Ministry for Health, Welfare and Sports"},{"name":"European Commission (DG XII) and the Municipality of Rotterdam"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Creutzfeldt\u2013Jakob disease is a rare, fatal, neurodegenerative disease caused by the accumulation of abnormally folded prion proteins. The common polymorphism at codon 129 (methionine\/valine) in the prion protein (PRNP) gene is the most important determinant of genetic susceptibility. Homozygotes of either allele have a higher risk of sporadic Creutzfeldt\u2013Jakob disease. Various studies suggest that this polymorphism is also involved in other forms of dementia. We studied the association between the codon 129 polymorphism of the PRNP gene and mild cognitive impairment in 3605 participants from the Rotterdam Study using logistic regression analyses. Subsequently, we studied the association between this polymorphism and incident dementia, including Alzheimer\u2019s disease, in 11 070 participants using Cox proportional hazard models. Analyses were adjusted for age and sex. We found the prevalence of mild cognitive impairment to be higher for carriers of the methionine\/methionine genotype (odds ratio, 1.40; 95% confidence interval, 1.11\u20131.78; P\u2009=\u20090.005) as well as for carriers of the valine\/valine genotype (odds ratio, 1.37; 95% confidence interval, 0.96\u20131.97; P\u2009=\u20090.08). The codon 129 polymorphism was not associated with the risk of incident dementia or Alzheimer\u2019s disease. In conclusion, we found a statistically significant higher prevalence of mild cognitive impairment in carriers of the methionine\/methionine genotype in the codon 129 polymorphism of the PRNP gene within this population-based study. No associations were found between the codon 129 polymorphism and dementia or Alzheimer\u2019s disease in the general population.<\/jats:p>","DOI":"10.1093\/braincomms\/fcaa030","type":"journal-article","created":{"date-parts":[[2020,3,20]],"date-time":"2020-03-20T13:47:44Z","timestamp":1584712064000},"source":"Crossref","is-referenced-by-count":6,"title":["Prion protein codon 129 polymorphism in mild cognitive impairment and dementia: the Rotterdam Study"],"prefix":"10.1093","volume":"2","author":[{"given":"Hata","family":"Karamuji\u0107-\u010comi\u0107","sequence":"first","affiliation":[{"name":"Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, Netherlands"},{"name":"National Prion Disease Registry, Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahzad","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thom S","family":"Lysen","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, Netherlands"},{"name":"National Prion Disease Registry, Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alis","family":"Heshmatollah","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, Netherlands"},{"name":"National Prion Disease Registry, Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gennady V","family":"Roshchupkin","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, Netherlands"},{"name":"Department of Medical Informatics, Erasmus MC, University Medical Center, Rotterdam, Netherlands"},{"name":"Department of Radiology and Nuclear Medicine, Erasmus MC, University Medical Center, Rotterdam, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meike W","family":"Vernooij","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, Netherlands"},{"name":"Department of Radiology and Nuclear Medicine, Erasmus MC, University Medical Center, Rotterdam, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annemieke J M","family":"Rozemuller","sequence":"additional","affiliation":[{"name":"Department of Pathology, Amsterdam Neuroscience, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands"},{"name":"Department of Pathology, UMC Utrecht, Utrecht, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Arfan","family":"Ikram","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, Netherlands"},{"name":"National Prion Disease Registry, Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Najaf","family":"Amin","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelia M","family":"van Duijn","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, Netherlands"},{"name":"National Prion Disease Registry, Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, Netherlands"},{"name":"Clinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,3,20]]},"reference":[{"key":"2020081108571208600_fcaa030-B1","doi-asserted-by":"crossref","first-page":"1673","DOI":"10.1016\/S0140-6736(99)01342-2","article-title":"Codon 129 prion protein genotype and sporadic Creutzfeldt-Jakob disease","volume":"353","author":"Alperovitch","year":"1999","journal-title":"Lancet"},{"key":"2020081108571208600_fcaa030-B2","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1001\/jamaneurol.2013.5847","article-title":"Amyloid-beta and tau: the trigger and bullet in Alzheimer disease pathogenesis","volume":"71","author":"Bloom","year":"2014","journal-title":"JAMA Neurol"},{"key":"2020081108571208600_fcaa030-B3","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1002\/ana.21583","article-title":"Variant Creutzfeldt-Jakob disease in France and the United Kingdom: evidence for the same agent strain","volume":"65","author":"Brandel","year":"2009","journal-title":"Ann Neurol"},{"key":"2020081108571208600_fcaa030-B4","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1155\/2010\/196538","article-title":"Lack of association between PRNP M129V polymorphism and multiple sclerosis, mild cognitive impairment, alcoholism and schizophrenia in a Korean population","volume":"28","author":"Choi","year":"2010","journal-title":"Dis Markers"},{"key":"2020081108571208600_fcaa030-B5","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1002\/ana.10658","article-title":"Early cognitive decline is associated with prion protein codon 129 polymorphism","volume":"54","author":"Croes","year":"2003","journal-title":"Ann Neurol"},{"key":"2020081108571208600_fcaa030-B6","doi-asserted-by":"crossref","first-page":"S239","DOI":"10.3233\/JAD-132558","article-title":"Determinants, MRI correlates, and 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