Skip to main content
Erschienen in:

01.04.2019 | Original Article

Correlations Between Single Nucleotide Polymorphisms, Cognitive Dysfunction, and Postmortem Brain Pathology in Alzheimer’s Disease Among Han Chinese

verfasst von: Qian Yang, Kang Chen, Hanlin Zhang, Wanying Zhang, Changlin Gong, Qing Zhang, Pan Liu, Tianyi Sun, Yuanyuan Xu, Xiaojing Qian, Wenying Qiu, Chao Ma

Erschienen in: Neuroscience Bulletin | Ausgabe 2/2019

Einloggen, um Zugang zu erhalten

Abstract

In this study, the distribution of five Alzheimer’s disease (AD)-related single nucleotide polymorphisms (SNPs) in the Han population was examined in combination with the evaluation of clinical cognition and brain pathological analysis. The associations among SNPs, clinical daily cognitive states, and postmortem neuropathological changes were analyzed in 110 human brains from the Chinese Academy of Medical Sciences/Peking Union Medical College (CAMS/PUMC) Human Brain Bank. APOE ε4 (OR = 4.482, P = 0.004), the RS2305421 GG genotype (adjusted OR = 4.397, P = 0.015), and the RS10498633 GT genotype (adjusted OR = 2.375, P = 0.028) were associated with a higher score on the ABC (Aβ plaque score, Braak NFT stage, and CERAD neuritic plaque score) dementia scale. These results advance our understanding of the pathogenesis of AD, the relationship between pathological diagnosis and clinical diagnosis, and the SNPs in the Han population for future research.
Anhänge
Nur mit Berechtigung zugänglich
Literatur
1.
Zurück zum Zitat Dong MJ, Peng B, Lin XT, Zhao J, Zhou YR, Wang RH. The prevalence of dementia in the People’s Republic of China: a systematic analysis of 1980–2004 studies. Age Ageing 2007, 36: 619–624.CrossRefPubMed Dong MJ, Peng B, Lin XT, Zhao J, Zhou YR, Wang RH. The prevalence of dementia in the People’s Republic of China: a systematic analysis of 1980–2004 studies. Age Ageing 2007, 36: 619–624.CrossRefPubMed
2.
Zurück zum Zitat Wang QH, Wang X, Bu XL, Lian Y, Xiang Y, Luo HB, et al. Comorbidity burden of dementia: a hospital-based retrospective study from 2003 to 2012 in seven cities in China. Neurosci Bull 2017, 33: 703–710.CrossRefPubMedPubMedCentral Wang QH, Wang X, Bu XL, Lian Y, Xiang Y, Luo HB, et al. Comorbidity burden of dementia: a hospital-based retrospective study from 2003 to 2012 in seven cities in China. Neurosci Bull 2017, 33: 703–710.CrossRefPubMedPubMedCentral
3.
Zurück zum Zitat Jack CR, Jr., Bennett DA, Blennow K, Carrillo MC, Dunn B, Haeberlein SB, et al. NIA-AA Research Framework: Toward a biological definition of Alzheimer’s disease. Alzheimers Dement 2018, 14: 535–562.CrossRefPubMedPubMedCentral Jack CR, Jr., Bennett DA, Blennow K, Carrillo MC, Dunn B, Haeberlein SB, et al. NIA-AA Research Framework: Toward a biological definition of Alzheimer’s disease. Alzheimers Dement 2018, 14: 535–562.CrossRefPubMedPubMedCentral
4.
Zurück zum Zitat Yang A, Wang C, Song B, Zhang W, Guo Y, Yang R, et al. Attenuation of beta-amyloid toxicity in vitro and in vivo by accelerated aggregation. Neurosci Bull 2017, 33: 405–412.CrossRefPubMedPubMedCentral Yang A, Wang C, Song B, Zhang W, Guo Y, Yang R, et al. Attenuation of beta-amyloid toxicity in vitro and in vivo by accelerated aggregation. Neurosci Bull 2017, 33: 405–412.CrossRefPubMedPubMedCentral
5.
Zurück zum Zitat Doig AJ, Del Castillo-Frias MP, Berthoumieu O, Tarus B, Nasica-Labouze J, Sterpone F, et al. Why is research on amyloid-beta failing to give new drugs for Alzheimer’s disease? ACS Chem Neurosci 2017, 8: 1435–1437.CrossRefPubMed Doig AJ, Del Castillo-Frias MP, Berthoumieu O, Tarus B, Nasica-Labouze J, Sterpone F, et al. Why is research on amyloid-beta failing to give new drugs for Alzheimer’s disease? ACS Chem Neurosci 2017, 8: 1435–1437.CrossRefPubMed
6.
Zurück zum Zitat Serrano-Pozo A, Qian J, Muzikansky A, Monsell SE, Montine TJ, Frosch MP, et al. Thal amyloid stages do not significantly impact the correlation between neuropathological change and cognition in the Alzheimer Disease Continuum. J Neuropathol Exp Neurol 2016, 75: 516–526.CrossRefPubMedPubMedCentral Serrano-Pozo A, Qian J, Muzikansky A, Monsell SE, Montine TJ, Frosch MP, et al. Thal amyloid stages do not significantly impact the correlation between neuropathological change and cognition in the Alzheimer Disease Continuum. J Neuropathol Exp Neurol 2016, 75: 516–526.CrossRefPubMedPubMedCentral
7.
Zurück zum Zitat Desikan RS, Fan CC, Wang Y, Schork AJ, Cabral HJ, Cupples LA, et al. Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score. PLoS Med 2017, 14: e1002258.CrossRefPubMedPubMedCentral Desikan RS, Fan CC, Wang Y, Schork AJ, Cabral HJ, Cupples LA, et al. Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score. PLoS Med 2017, 14: e1002258.CrossRefPubMedPubMedCentral
8.
Zurück zum Zitat Strum JC, Shehee R, Virley D, Richardson J, Mattie M, Selley P, et al. Rosiglitazone induces mitochondrial biogenesis in mouse brain. J Alzheimers Dis 2007, 11: 45–51.CrossRefPubMed Strum JC, Shehee R, Virley D, Richardson J, Mattie M, Selley P, et al. Rosiglitazone induces mitochondrial biogenesis in mouse brain. J Alzheimers Dis 2007, 11: 45–51.CrossRefPubMed
9.
Zurück zum Zitat Shi Y, Yamada K, Liddelow SA, Smith ST, Zhao L, Luo W, et al. ApoE4 markedly exacerbates tau-mediated neurodegeneration in a mouse model of tauopathy. Nature 2017, 549: 523–527.CrossRefPubMedPubMedCentral Shi Y, Yamada K, Liddelow SA, Smith ST, Zhao L, Luo W, et al. ApoE4 markedly exacerbates tau-mediated neurodegeneration in a mouse model of tauopathy. Nature 2017, 549: 523–527.CrossRefPubMedPubMedCentral
10.
Zurück zum Zitat Coon KD, Myers AJ, Craig DW, Webster JA, Pearson JV, Lince DH, et al. A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer’s disease. J Clin Psychiatry 2007, 68: 613–618.CrossRefPubMed Coon KD, Myers AJ, Craig DW, Webster JA, Pearson JV, Lince DH, et al. A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer’s disease. J Clin Psychiatry 2007, 68: 613–618.CrossRefPubMed
11.
Zurück zum Zitat Roses AD, Lutz MW, Amrine-Madsen H, Saunders AM, Crenshaw DG, Sundseth SS, et al. A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer’s disease. Pharmacogenomics J 2010, 10: 375–384.CrossRefPubMed Roses AD, Lutz MW, Amrine-Madsen H, Saunders AM, Crenshaw DG, Sundseth SS, et al. A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer’s disease. Pharmacogenomics J 2010, 10: 375–384.CrossRefPubMed
12.
Zurück zum Zitat Hung AY, Haass C, Nitsch RM, Qiu WQ, Citron M, Wurtman RJ, et al. Activation of protein kinase C inhibits cellular production of the amyloid beta-protein. J Biol Chem 1993, 268: 22959–22962.PubMed Hung AY, Haass C, Nitsch RM, Qiu WQ, Citron M, Wurtman RJ, et al. Activation of protein kinase C inhibits cellular production of the amyloid beta-protein. J Biol Chem 1993, 268: 22959–22962.PubMed
13.
Zurück zum Zitat Kim M, Suh J, Romano D, Truong MH, Mullin K, Hooli B, et al. Potential late-onset Alzheimer’s disease-associated mutations in the ADAM10 gene attenuate {alpha}-secretase activity. Hum Mol Genet 2009, 18: 3987–3996.CrossRefPubMedPubMedCentral Kim M, Suh J, Romano D, Truong MH, Mullin K, Hooli B, et al. Potential late-onset Alzheimer’s disease-associated mutations in the ADAM10 gene attenuate {alpha}-secretase activity. Hum Mol Genet 2009, 18: 3987–3996.CrossRefPubMedPubMedCentral
14.
Zurück zum Zitat Bertram L, Lange C, Mullin K, Parkinson M, Hsiao M, Hogan MF, et al. Genome-wide association analysis reveals putative Alzheimer’s disease susceptibility loci in addition to APOE. Am J Hum Genet 2008, 83: 623–632.CrossRefPubMedPubMedCentral Bertram L, Lange C, Mullin K, Parkinson M, Hsiao M, Hogan MF, et al. Genome-wide association analysis reveals putative Alzheimer’s disease susceptibility loci in addition to APOE. Am J Hum Genet 2008, 83: 623–632.CrossRefPubMedPubMedCentral
15.
Zurück zum Zitat Larsson M, Duffy DL, Zhu G, Liu JZ, Macgregor S, McRae AF, et al. GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development. Am J Hum Genet 2011, 89: 334–343.CrossRefPubMedPubMedCentral Larsson M, Duffy DL, Zhu G, Liu JZ, Macgregor S, McRae AF, et al. GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development. Am J Hum Genet 2011, 89: 334–343.CrossRefPubMedPubMedCentral
16.
Zurück zum Zitat Samarasekera N, Al-Shahi Salman R, Huitinga I, Klioueva N, McLean CA, Kretzschmar H, et al. Brain banking for neurological disorders. Lancet Neurol 2013, 12: 1096–1105.CrossRefPubMed Samarasekera N, Al-Shahi Salman R, Huitinga I, Klioueva N, McLean CA, Kretzschmar H, et al. Brain banking for neurological disorders. Lancet Neurol 2013, 12: 1096–1105.CrossRefPubMed
17.
Zurück zum Zitat Marshall GA, Zoller AS, Kelly KE, Amariglio RE, Locascio JJ, Johnson KA, et al. Everyday cognition scale items that best discriminate between and predict progression from clinically normal to mild cognitive impairment. Curr Alzheimer Res 2014, 11: 853–861.CrossRefPubMedPubMedCentral Marshall GA, Zoller AS, Kelly KE, Amariglio RE, Locascio JJ, Johnson KA, et al. Everyday cognition scale items that best discriminate between and predict progression from clinically normal to mild cognitive impairment. Curr Alzheimer Res 2014, 11: 853–861.CrossRefPubMedPubMedCentral
18.
Zurück zum Zitat Hyman BT, Phelps CH, Beach TG, Bigio EH, Cairns NJ, Carrillo MC, et al. National Institute on Aging-Alzheimer’s Association guidelines for the neuropathologic assessment of Alzheimer’s disease. Alzheimers Dement 2012, 8: 1–13.CrossRefPubMedPubMedCentral Hyman BT, Phelps CH, Beach TG, Bigio EH, Cairns NJ, Carrillo MC, et al. National Institute on Aging-Alzheimer’s Association guidelines for the neuropathologic assessment of Alzheimer’s disease. Alzheimers Dement 2012, 8: 1–13.CrossRefPubMedPubMedCentral
19.
Zurück zum Zitat Roman GC, Tatemichi TK, Erkinjuntti T, Cummings JL, Masdeu JC, Garcia JH, et al. Vascular dementia: diagnostic criteria for research studies. Report of the NINDS-AIREN International Workshop. Neurology 1993, 43: 250–260. Roman GC, Tatemichi TK, Erkinjuntti T, Cummings JL, Masdeu JC, Garcia JH, et al. Vascular dementia: diagnostic criteria for research studies. Report of the NINDS-AIREN International Workshop. Neurology 1993, 43: 250–260.
20.
Zurück zum Zitat Braak H, Braak E. Staging of Alzheimer’s disease-related neurofibrillary changes. Neurobiol Aging 1995, 16: 271–278; discussion 278–284. Braak H, Braak E. Staging of Alzheimer’s disease-related neurofibrillary changes. Neurobiol Aging 1995, 16: 271–278; discussion 278–284.
21.
Zurück zum Zitat Farias ST, Park LQ, Harvey DJ, Simon C, Reed BR, Carmichael O, et al. Everyday cognition in older adults: associations with neuropsychological performance and structural brain imaging. J Int Neuropsychol Soc 2013, 19: 430–441.CrossRefPubMed Farias ST, Park LQ, Harvey DJ, Simon C, Reed BR, Carmichael O, et al. Everyday cognition in older adults: associations with neuropsychological performance and structural brain imaging. J Int Neuropsychol Soc 2013, 19: 430–441.CrossRefPubMed
22.
Zurück zum Zitat Farias ST, Mungas D, Reed BR, Harvey D, Cahn-Weiner D, Decarli C. MCI is associated with deficits in everyday functioning. Alzheimer Dis Assoc Disord 2006, 20: 217–223.CrossRefPubMedPubMedCentral Farias ST, Mungas D, Reed BR, Harvey D, Cahn-Weiner D, Decarli C. MCI is associated with deficits in everyday functioning. Alzheimer Dis Assoc Disord 2006, 20: 217–223.CrossRefPubMedPubMedCentral
23.
Zurück zum Zitat Suenaga T, Hirano A, Llena JF, Yen SH, Dickson DW. Modified Bielschowsky stain and immunohistochemical studies on striatal plaques in Alzheimer’s disease. Acta Neuropathol 1990, 80: 280–286.CrossRefPubMed Suenaga T, Hirano A, Llena JF, Yen SH, Dickson DW. Modified Bielschowsky stain and immunohistochemical studies on striatal plaques in Alzheimer’s disease. Acta Neuropathol 1990, 80: 280–286.CrossRefPubMed
24.
Zurück zum Zitat Vonsattel JP, Myers RH, Hedley-Whyte ET, Ropper AH, Bird ED, Richardson EP, Jr. Cerebral amyloid angiopathy without and with cerebral hemorrhages: a comparative histological study. Ann Neurol 1991, 30: 637–649.CrossRefPubMed Vonsattel JP, Myers RH, Hedley-Whyte ET, Ropper AH, Bird ED, Richardson EP, Jr. Cerebral amyloid angiopathy without and with cerebral hemorrhages: a comparative histological study. Ann Neurol 1991, 30: 637–649.CrossRefPubMed
25.
Zurück zum Zitat Yarchoan M, Xie SX, Kling MA, Toledo JB, Wolk DA, Lee EB, et al. Cerebrovascular atherosclerosis correlates with Alzheimer pathology in neurodegenerative dementias. Brain 2012, 135: 3749–3756.CrossRefPubMedPubMedCentral Yarchoan M, Xie SX, Kling MA, Toledo JB, Wolk DA, Lee EB, et al. Cerebrovascular atherosclerosis correlates with Alzheimer pathology in neurodegenerative dementias. Brain 2012, 135: 3749–3756.CrossRefPubMedPubMedCentral
26.
Zurück zum Zitat Ananth CV, Kleinbaum DG. Regression models for ordinal responses: a review of methods and applications. Int J Epidemiol 1997, 26: 1323–1333.CrossRefPubMed Ananth CV, Kleinbaum DG. Regression models for ordinal responses: a review of methods and applications. Int J Epidemiol 1997, 26: 1323–1333.CrossRefPubMed
27.
Zurück zum Zitat Suemoto CK, Ferretti-Rebustini RE, Rodriguez RD, Leite RE, Soterio L, Brucki SM, et al. Neuropathological diagnoses and clinical correlates in older adults in Brazil: A cross-sectional study. PLoS Med 2017, 14: e1002267.CrossRefPubMedPubMedCentral Suemoto CK, Ferretti-Rebustini RE, Rodriguez RD, Leite RE, Soterio L, Brucki SM, et al. Neuropathological diagnoses and clinical correlates in older adults in Brazil: A cross-sectional study. PLoS Med 2017, 14: e1002267.CrossRefPubMedPubMedCentral
28.
Zurück zum Zitat Montine TJ, Phelps CH, Beach TG, Bigio EH, Cairns NJ, Dickson DW, et al. National Institute on Aging-Alzheimer’s Association guidelines for the neuropathologic assessment of Alzheimer’s disease: a practical approach. Acta Neuropathol 2012, 123: 1–11.CrossRefPubMed Montine TJ, Phelps CH, Beach TG, Bigio EH, Cairns NJ, Dickson DW, et al. National Institute on Aging-Alzheimer’s Association guidelines for the neuropathologic assessment of Alzheimer’s disease: a practical approach. Acta Neuropathol 2012, 123: 1–11.CrossRefPubMed
29.
Zurück zum Zitat Goedert M. NEURODEGENERATION. Alzheimer’s and Parkinson’s diseases: The prion concept in relation to assembled Abeta, tau, and alpha-synuclein. Science 2015, 349: 1255555. Goedert M. NEURODEGENERATION. Alzheimer’s and Parkinson’s diseases: The prion concept in relation to assembled Abeta, tau, and alpha-synuclein. Science 2015, 349: 1255555.
30.
31.
Zurück zum Zitat Quinn JP, Corbett NJ, Kellett KAB, Hooper NM. Tau proteolysis in the pathogenesis of tauopathies: neurotoxic fragments and novel biomarkers. J Alzheimers Dis 2018, 63: 13–33.CrossRefPubMedPubMedCentral Quinn JP, Corbett NJ, Kellett KAB, Hooper NM. Tau proteolysis in the pathogenesis of tauopathies: neurotoxic fragments and novel biomarkers. J Alzheimers Dis 2018, 63: 13–33.CrossRefPubMedPubMedCentral
32.
Zurück zum Zitat Mairet-Coello G, Courchet J, Pieraut S, Courchet V, Maximov A, Polleux F. The CAMKK2-AMPK kinase pathway mediates the synaptotoxic effects of Abeta oligomers through Tau phosphorylation. Neuron 2013, 78: 94–108.CrossRefPubMedPubMedCentral Mairet-Coello G, Courchet J, Pieraut S, Courchet V, Maximov A, Polleux F. The CAMKK2-AMPK kinase pathway mediates the synaptotoxic effects of Abeta oligomers through Tau phosphorylation. Neuron 2013, 78: 94–108.CrossRefPubMedPubMedCentral
33.
Zurück zum Zitat Brier MR, Gordon B, Friedrichsen K, McCarthy J, Stern A, Christensen J, et al. Tau and Abeta imaging, CSF measures, and cognition in Alzheimer’s disease. Sci Transl Med 2016, 8: 338ra366. Brier MR, Gordon B, Friedrichsen K, McCarthy J, Stern A, Christensen J, et al. Tau and Abeta imaging, CSF measures, and cognition in Alzheimer’s disease. Sci Transl Med 2016, 8: 338ra366.
34.
Zurück zum Zitat Bos I, Verhey FR, Ramakers I, Jacobs HIL, Soininen H, Freund-Levi Y, et al. Cerebrovascular and amyloid pathology in predementia stages: the relationship with neurodegeneration and cognitive decline. Alzheimers Res Ther 2017, 9: 101.CrossRefPubMedPubMedCentral Bos I, Verhey FR, Ramakers I, Jacobs HIL, Soininen H, Freund-Levi Y, et al. Cerebrovascular and amyloid pathology in predementia stages: the relationship with neurodegeneration and cognitive decline. Alzheimers Res Ther 2017, 9: 101.CrossRefPubMedPubMedCentral
35.
Zurück zum Zitat Jiang Y, Huang H, Abner E, Broster LS, Jicha GA, Schmitt FA, et al. Alzheimer’s biomarkers are correlated with brain connectivity in older adults differentially during resting and task states. Front Aging Neurosci 2016, 8: 15.PubMedPubMedCentral Jiang Y, Huang H, Abner E, Broster LS, Jicha GA, Schmitt FA, et al. Alzheimer’s biomarkers are correlated with brain connectivity in older adults differentially during resting and task states. Front Aging Neurosci 2016, 8: 15.PubMedPubMedCentral
36.
Zurück zum Zitat Nelson PT, Alafuzoff I, Bigio EH, Bouras C, Braak H, Cairns NJ, et al. Correlation of Alzheimer disease neuropathologic changes with cognitive status: a review of the literature. J Neuropathol Exp Neurol 2012, 71: 362–381.CrossRefPubMed Nelson PT, Alafuzoff I, Bigio EH, Bouras C, Braak H, Cairns NJ, et al. Correlation of Alzheimer disease neuropathologic changes with cognitive status: a review of the literature. J Neuropathol Exp Neurol 2012, 71: 362–381.CrossRefPubMed
37.
Zurück zum Zitat Quiroz-Baez R, Flores-Dominguez D, Arias C. Synaptic aging is associated with mitochondrial dysfunction, reduced antioxidant contents and increased vulnerability to amyloid-beta toxicity. Curr Alzheimer Res 2013, 10: 324–331.CrossRefPubMed Quiroz-Baez R, Flores-Dominguez D, Arias C. Synaptic aging is associated with mitochondrial dysfunction, reduced antioxidant contents and increased vulnerability to amyloid-beta toxicity. Curr Alzheimer Res 2013, 10: 324–331.CrossRefPubMed
38.
Zurück zum Zitat Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, Small GW, et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer’s disease in late onset families. Science 1993, 261: 921–923.CrossRefPubMed Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, Small GW, et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer’s disease in late onset families. Science 1993, 261: 921–923.CrossRefPubMed
39.
Zurück zum Zitat Liu L, MacKenzie KR, Putluri N, Maletic-Savatic M, Bellen HJ. The glia-neuron lactate shuttle and elevated ROS promote lipid synthesis in neurons and lipid droplet accumulation in glia via APOE/D. Cell Metab 2017, 26: 719–737 e716. Liu L, MacKenzie KR, Putluri N, Maletic-Savatic M, Bellen HJ. The glia-neuron lactate shuttle and elevated ROS promote lipid synthesis in neurons and lipid droplet accumulation in glia via APOE/D. Cell Metab 2017, 26: 719–737 e716.
40.
Zurück zum Zitat Wang C, Najm R, Xu Q, Jeong DE, Walker D, Balestra ME, et al. Gain of toxic apolipoprotein E4 effects in human iPSC-derived neurons is ameliorated by a small-molecule structure corrector. Nat Med 2018, 24: 647–657.CrossRefPubMedPubMedCentral Wang C, Najm R, Xu Q, Jeong DE, Walker D, Balestra ME, et al. Gain of toxic apolipoprotein E4 effects in human iPSC-derived neurons is ameliorated by a small-molecule structure corrector. Nat Med 2018, 24: 647–657.CrossRefPubMedPubMedCentral
41.
Zurück zum Zitat Chen W, Jin F, Cao G, Mei R, Wang Y, Long P, et al. ApoE4 may be a promising target for treatment of coronary heart disease and Alzheimer’s disease. Curr Drug Targets 2018, 19: 1038–1046.CrossRefPubMed Chen W, Jin F, Cao G, Mei R, Wang Y, Long P, et al. ApoE4 may be a promising target for treatment of coronary heart disease and Alzheimer’s disease. Curr Drug Targets 2018, 19: 1038–1046.CrossRefPubMed
42.
Zurück zum Zitat Koch G, Di Lorenzo F, Loizzo S, Motta C, Travaglione S, Baiula M, et al. CSF tau is associated with impaired cortical plasticity, cognitive decline and astrocyte survival only in APOE4-positive Alzheimer’s disease. Sci Rep 2017, 7: 13728.CrossRefPubMedPubMedCentral Koch G, Di Lorenzo F, Loizzo S, Motta C, Travaglione S, Baiula M, et al. CSF tau is associated with impaired cortical plasticity, cognitive decline and astrocyte survival only in APOE4-positive Alzheimer’s disease. Sci Rep 2017, 7: 13728.CrossRefPubMedPubMedCentral
43.
Zurück zum Zitat Miller BR, Cumsky MG. An unusual mitochondrial import pathway for the precursor to yeast cytochrome c oxidase subunit Va. J Cell Biol 1991, 112: 833–841.CrossRefPubMed Miller BR, Cumsky MG. An unusual mitochondrial import pathway for the precursor to yeast cytochrome c oxidase subunit Va. J Cell Biol 1991, 112: 833–841.CrossRefPubMed
44.
Zurück zum Zitat Jensen RE, Dunn CD. Protein import into and across the mitochondrial inner membrane: role of the TIM23 and TIM22 translocons. Biochim Biophys Acta 2002, 1592: 25–34.CrossRefPubMed Jensen RE, Dunn CD. Protein import into and across the mitochondrial inner membrane: role of the TIM23 and TIM22 translocons. Biochim Biophys Acta 2002, 1592: 25–34.CrossRefPubMed
45.
Zurück zum Zitat Ma XY, Yu JT, Wang W, Wang HF, Liu QY, Zhang W, et al. Association of TOMM40 polymorphisms with late-onset Alzheimer’s disease in a Northern Han Chinese population. Neuromolecular Med 2013, 15: 279–287.CrossRefPubMed Ma XY, Yu JT, Wang W, Wang HF, Liu QY, Zhang W, et al. Association of TOMM40 polymorphisms with late-onset Alzheimer’s disease in a Northern Han Chinese population. Neuromolecular Med 2013, 15: 279–287.CrossRefPubMed
46.
Zurück zum Zitat Bagnoli S, Piaceri I, Tedde A, Bessi V, Bracco L, Sorbi S, et al. TOMM40 polymorphisms in Italian Alzheimer’s disease and frontotemporal dementia patients. Neurol Sci 2013, 34: 995–998.CrossRefPubMed Bagnoli S, Piaceri I, Tedde A, Bessi V, Bracco L, Sorbi S, et al. TOMM40 polymorphisms in Italian Alzheimer’s disease and frontotemporal dementia patients. Neurol Sci 2013, 34: 995–998.CrossRefPubMed
47.
Zurück zum Zitat Bernardi L, Gallo M, Anfossi M, Conidi ME, Colao R, Puccio G, et al. Role of TOMM40 rs10524523 polymorphism in onset of Alzheimer’s disease caused by the PSEN1 M146L mutation. J Alzheimers Dis 2013, 37: 285–289.CrossRefPubMed Bernardi L, Gallo M, Anfossi M, Conidi ME, Colao R, Puccio G, et al. Role of TOMM40 rs10524523 polymorphism in onset of Alzheimer’s disease caused by the PSEN1 M146L mutation. J Alzheimers Dis 2013, 37: 285–289.CrossRefPubMed
48.
Zurück zum Zitat Lammich S, Kojro E, Postina R, Gilbert S, Pfeiffer R, Jasionowski M, et al. Constitutive and regulated alpha-secretase cleavage of Alzheimer’s amyloid precursor protein by a disintegrin metalloprotease. Proc Natl Acad Sci U S A 1999, 96: 3922–3927.CrossRefPubMedPubMedCentral Lammich S, Kojro E, Postina R, Gilbert S, Pfeiffer R, Jasionowski M, et al. Constitutive and regulated alpha-secretase cleavage of Alzheimer’s amyloid precursor protein by a disintegrin metalloprotease. Proc Natl Acad Sci U S A 1999, 96: 3922–3927.CrossRefPubMedPubMedCentral
49.
Zurück zum Zitat Postina R, Schroeder A, Dewachter I, Bohl J, Schmitt U, Kojro E, et al. A disintegrin-metalloproteinase prevents amyloid plaque formation and hippocampal defects in an Alzheimer disease mouse model. J Clin Invest 2004, 113: 1456–1464.CrossRefPubMedPubMedCentral Postina R, Schroeder A, Dewachter I, Bohl J, Schmitt U, Kojro E, et al. A disintegrin-metalloproteinase prevents amyloid plaque formation and hippocampal defects in an Alzheimer disease mouse model. J Clin Invest 2004, 113: 1456–1464.CrossRefPubMedPubMedCentral
50.
Zurück zum Zitat Song JH, Yu JT, Liu M, Yan CZ, Tan L. Genetic association between ADAM10 gene polymorphism and Alzheimer’s disease in a Northern Han Chinese population. Brain Res 2011, 1421: 78–81.CrossRefPubMed Song JH, Yu JT, Liu M, Yan CZ, Tan L. Genetic association between ADAM10 gene polymorphism and Alzheimer’s disease in a Northern Han Chinese population. Brain Res 2011, 1421: 78–81.CrossRefPubMed
51.
Zurück zum Zitat Jalloul AH, Rogasevskaia TP, Szerencsei RT, Schnetkamp PP. A functional study of mutations in K+-dependent Na+-Ca2+ exchangers associated with amelogenesis imperfecta and non-syndromic oculocutaneous albinism. J Biol Chem 2016, 291: 13113–13123.CrossRefPubMedPubMedCentral Jalloul AH, Rogasevskaia TP, Szerencsei RT, Schnetkamp PP. A functional study of mutations in K+-dependent Na+-Ca2+ exchangers associated with amelogenesis imperfecta and non-syndromic oculocutaneous albinism. J Biol Chem 2016, 291: 13113–13123.CrossRefPubMedPubMedCentral
52.
Zurück zum Zitat Wang S, Choi M, Richardson AS, Reid BM, Seymen F, Yildirim M, et al. STIM1 and SLC24A4 are critical for enamel maturation. J Dent Res 2014, 93: 94S–100S.CrossRefPubMedPubMedCentral Wang S, Choi M, Richardson AS, Reid BM, Seymen F, Yildirim M, et al. STIM1 and SLC24A4 are critical for enamel maturation. J Dent Res 2014, 93: 94S–100S.CrossRefPubMedPubMedCentral
53.
Zurück zum Zitat Parry DA, Poulter JA, Logan CV, Brookes SJ, Jafri H, Ferguson CH, et al. Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta. Am J Hum Genet 2013, 92: 307–312.CrossRefPubMedPubMedCentral Parry DA, Poulter JA, Logan CV, Brookes SJ, Jafri H, Ferguson CH, et al. Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta. Am J Hum Genet 2013, 92: 307–312.CrossRefPubMedPubMedCentral
54.
Zurück zum Zitat Bronckers AL, Jalali R, Lytton J. Reduced protein expression of the Na+/Ca2+ +K+ exchanger (SLC24A4) in apical plasma membranes of maturation ameloblasts of fluorotic mice. Calcif Tissue Int 2017, 100: 80–86.CrossRefPubMed Bronckers AL, Jalali R, Lytton J. Reduced protein expression of the Na+/Ca2+ +K+ exchanger (SLC24A4) in apical plasma membranes of maturation ameloblasts of fluorotic mice. Calcif Tissue Int 2017, 100: 80–86.CrossRefPubMed
55.
Zurück zum Zitat Han J, Kraft P, Nan H, Guo Q, Chen C, Qureshi A, et al. A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet 2008, 4: e1000074.CrossRefPubMedPubMedCentral Han J, Kraft P, Nan H, Guo Q, Chen C, Qureshi A, et al. A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet 2008, 4: e1000074.CrossRefPubMedPubMedCentral
56.
Zurück zum Zitat Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, et al. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer’s disease. Nat Genet 2013, 45: 1452–1458.CrossRefPubMedPubMedCentral Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, et al. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer’s disease. Nat Genet 2013, 45: 1452–1458.CrossRefPubMedPubMedCentral
57.
Zurück zum Zitat Liu G, Zhang L, Feng R, Liao M, Jiang Y, Chen Z, et al. Lack of association between PICALM rs3851179 polymorphism and Alzheimer’s disease in Chinese population and APOEepsilon4-negative subgroup. Neurobiol Aging 2013, 34: 1310 e1319–1310. Liu G, Zhang L, Feng R, Liao M, Jiang Y, Chen Z, et al. Lack of association between PICALM rs3851179 polymorphism and Alzheimer’s disease in Chinese population and APOEepsilon4-negative subgroup. Neurobiol Aging 2013, 34: 1310 e1319–1310.
58.
Zurück zum Zitat Greene CS, Penrod NM, Williams SM, Moore JH. Failure to replicate a genetic association may provide important clues about genetic architecture. PLoS One 2009, 4: e5639.CrossRefPubMedPubMedCentral Greene CS, Penrod NM, Williams SM, Moore JH. Failure to replicate a genetic association may provide important clues about genetic architecture. PLoS One 2009, 4: e5639.CrossRefPubMedPubMedCentral
59.
Zurück zum Zitat Qiu WY, Yang Q, Zhang W, Wang N, Zhang D, Huang Y, et al. The correlations between postmortem brain pathologies and cognitive dysfunction in aging and Alzheimer’s disease. Curr Alzheimer Res 2018, 15: 462–473.CrossRefPubMed Qiu WY, Yang Q, Zhang W, Wang N, Zhang D, Huang Y, et al. The correlations between postmortem brain pathologies and cognitive dysfunction in aging and Alzheimer’s disease. Curr Alzheimer Res 2018, 15: 462–473.CrossRefPubMed
Metadaten
Titel
Correlations Between Single Nucleotide Polymorphisms, Cognitive Dysfunction, and Postmortem Brain Pathology in Alzheimer’s Disease Among Han Chinese
verfasst von
Qian Yang
Kang Chen
Hanlin Zhang
Wanying Zhang
Changlin Gong
Qing Zhang
Pan Liu
Tianyi Sun
Yuanyuan Xu
Xiaojing Qian
Wenying Qiu
Chao Ma
Publikationsdatum
01.04.2019
Verlag
Springer Singapore
Erschienen in
Neuroscience Bulletin / Ausgabe 2/2019
Print ISSN: 1673-7067
Elektronische ISSN: 1995-8218
DOI
https://doi.org/10.1007/s12264-019-00343-2

Kompaktes Leitlinien-Wissen Neurologie (Link öffnet in neuem Fenster)

Mit medbee Pocketcards schnell und sicher entscheiden.
Leitlinien-Wissen kostenlos und immer griffbereit auf ihrem Desktop, Handy oder Tablet.

Neu im Fachgebiet Neurologie

Erneut Hinweise für Neuroprotektion durch Gürtelroseimpfung

Ergebnisse eines kürzlich publizierten „natürlichen Experiments“ in Wales legten nahe, dass eine Herpes-Zoster-Impfung das Demenzrisiko senkt. Jetzt hat das Studienteam ähnliche Daten aus Australien publiziert, die in die gleiche Richtung zeigen. Offene Fragen bleiben allerdings so oder so.

Podcast

Leben statt zu Überleben: Post-Intensive-Care-Syndrom

Immer mehr Menschen überleben kritische Erkrankungen. Aber Beatmung, Sedierung und die Eindrücke der Intensivstation hinterlassen Spuren. Das Post-Intensive-Care-Syndrom kann die Folge sein. Es ist nicht nur eine Herausforderung für Kliniken, sondern auch Hausarztpraxen. Mit Allgemeinmediziner Prof. Dr. med. Konrad Schmidt sprechen wir in dieser Folge darüber, wie die Überlebenden wieder ins Leben finden können.

Zeitschrift für Allgemeinmedizin, DEGAM

Ehe schützt nicht vor Demenz

  • 25.04.2025
  • Demenz
  • Nachrichten

Eigentlich leben Verheiratete länger und gesünder. Eine aktuelle Untersuchung kommt jedoch zu dem überraschenden Schluss, dass sie eher an Demenz erkranken als nie Verheiratete, Geschiedene oder Verwitwete.

Lohnt sich die Karotis-Revaskularisation?

Die medikamentöse Therapie für Menschen mit Karotisstenosen hat sich in den vergangenen Dekaden verbessert. Braucht es also noch einen invasiven Eingriff zur Revaskularisation der Halsschlagader bei geringem bis moderatem Risiko für einen ipsilateralen Schlaganfall?

Update Neurologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.