Prion protein codon 129 polymorphism in mild cognitive impairment and dementia: the Rotterdam Study
| Autor: | Gennady V. Roshchupkin, Meike W. Vernooij, Shahzad Ahmad, Annemieke J.M. Rozemuller, Cornelia M. van Duijn, Thom S Lysen, Alis Heshmatollah, Mohammad Arfan Ikram, Najaf Amin, Hata Karamujić-Čomić |
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| Přispěvatelé: | Epidemiology, Radiology & Nuclear Medicine, Medical Informatics, Pathology, Amsterdam Neuroscience - Neurodegeneration |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Population PRNP 03 medical and health sciences Rotterdam Study chemistry.chemical_compound mild cognitive impairment 0302 clinical medicine Polymorphism (computer science) Internal medicine mental disorders Genotype Medicine Dementia prions education education.field_of_study Methionine business.industry General Engineering Odds ratio medicine.disease 030104 developmental biology Endocrinology chemistry Original Article business 030217 neurology & neurosurgery dementia |
| Zdroj: | Brain Communications, 2(1):30. Oxford University Press Brain Communications, 2(1):fcaa030. Oxford University Press Karamujić-Čomić, H, Ahmad, S, Lysen, T S, Heshmatollah, A, Roshchupkin, G V, Vernooij, M W, Rozemuller, A J M, Ikram, M A, Amin, N & van Duijn, C M 2020, ' Prion protein codon 129 polymorphism in mild cognitive impairment and dementia : the Rotterdam Study ', Brain Communications, vol. 2, no. 1, fcaa030 . https://doi.org/10.1093/braincomms/fcaa030 Brain Communications |
| ISSN: | 2632-1297 |
| DOI: | 10.1093/braincomms/fcaa030 |
| Popis: | Creutzfeldt–Jakob 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–Jakob 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’s 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, 1.11–1.78; P = 0.005) as well as for carriers of the valine/valine genotype (odds ratio, 1.37; 95% confidence interval, 0.96–1.97; P = 0.08). The codon 129 polymorphism was not associated with the risk of incident dementia or Alzheimer’s 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’s disease in the general population. There is increasing interest in the role of the common polymorphism at codon 129 in the prion protein gene in neurodegenerative traits. We report a role of this polymorphism in mild cognitive impairment in the general population. However, no association was found with dementia. Graphical Abstract Graphical Abstract |
| Databáze: | OpenAIRE |
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