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1
The butyrylcholinesterase K variant and susceptibility to Alzheimer's disease.丁酰胆碱酯酶K变体与阿尔茨海默病易感性
J Med Genet. 1998 Dec;35(12):1034-5. doi: 10.1136/jmg.35.12.1034.
2
Analysis of association between butyrylcholinesterase K variant and apolipoprotein E genotypes in Alzheimer's disease.阿尔茨海默病中丁酰胆碱酯酶K变异体与载脂蛋白E基因型之间的关联分析。
Neurosci Lett. 2004 Nov 23;371(2-3):142-6. doi: 10.1016/j.neulet.2004.08.057.
3
Failure to confirm a synergistic effect between the K-variant of the butyrylcholinesterase gene and the epsilon4 allele of the apolipoprotein gene in Japanese patients with Alzheimer's disease.在日本阿尔茨海默病患者中未能证实丁酰胆碱酯酶基因的K-变体与载脂蛋白基因的ε4等位基因之间存在协同效应。
J Neurol Neurosurg Psychiatry. 1999 Jul;67(1):94-6. doi: 10.1136/jnnp.67.1.94.
4
No association between the genes for butyrylcholinesterase K variant and apolipoprotein E4 in late-onset Alzheimer's disease.丁酰胆碱酯酶K变体基因与载脂蛋白E4在晚发性阿尔茨海默病中无关联。
Am J Med Genet. 1999 Apr 16;88(2):113-5. doi: 10.1002/(sici)1096-8628(19990416)88:2<113::aid-ajmg2>3.0.co;2-3.
5
Butyrylcholinesterase K variant is genetically associated with late onset Alzheimer's disease in Northern Ireland.丁酰胆碱酯酶K变体在基因上与北爱尔兰晚发性阿尔茨海默病相关。
J Med Genet. 2000 Mar;37(3):182-5. doi: 10.1136/jmg.37.3.182.
6
Further evidence for a synergistic association between APOE epsilon4 and BCHE-K in confirmed Alzheimer's disease.在确诊的阿尔茨海默病中，APOE ε4与丁酰胆碱酯酶-K之间存在协同关联的进一步证据。
Hum Genet. 1999 Feb;104(2):158-63. doi: 10.1007/s004390050929.
7
Butyrycholinesterase K variant and Alzheimer's disease.丁酰胆碱酯酶K变体与阿尔茨海默病。
J Neurol. 1999 May;246(5):369-70. doi: 10.1007/s004150050365.
8
Synergy between the genes for butyrylcholinesterase K variant and apolipoprotein E4 in late-onset confirmed Alzheimer's disease.丁酰胆碱酯酶K变体基因与载脂蛋白E4在晚发型确诊阿尔茨海默病中的协同作用。
Hum Mol Genet. 1997 Oct;6(11):1933-6. doi: 10.1093/hmg/6.11.1933.
9
Dipeptidyl carboxypeptidase 1 (DCP1) and butyrylcholinesterase (BCHE) gene interactions with the apolipoprotein E epsilon4 allele as risk factors in Alzheimer's disease and in Parkinson's disease with coexisting Alzheimer pathology.二肽基羧肽酶1（DCP1）和丁酰胆碱酯酶（BCHE）基因与载脂蛋白Eε4等位基因的相互作用，作为阿尔茨海默病以及伴有阿尔茨海默病理共存的帕金森病的风险因素。
J Med Genet. 2000 Oct;37(10):766-70. doi: 10.1136/jmg.37.10.766.
10
Butyrylcholinesterase K variant and apolipoprotein E4 genes do not act in synergy in Finnish late-onset Alzheimer's disease patients.丁酰胆碱酯酶K变体和载脂蛋白E4基因在芬兰晚发性阿尔茨海默病患者中不存在协同作用。
Neurosci Lett. 1998 Jun 26;250(1):69-71. doi: 10.1016/s0304-3940(98)00453-4.

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1
Confirmed Synergy Between the ɛ4 Allele of Apolipoprotein E and the Variant K of Butyrylcholinesterase as a Risk Factor for Alzheimer's Disease: A Systematic Review and Meta-Analysis.载脂蛋白E的ɛ4等位基因与丁酰胆碱酯酶变体K之间的协同作用被确认为阿尔茨海默病的一个风险因素：一项系统评价和荟萃分析。
J Alzheimers Dis Rep. 2023 Jun 19;7(1):613-625. doi: 10.3233/ADR-220084. eCollection 2023.
2
Association of and with Alzheimer's disease: Meta-analysis based on 56 genetic case-control studies of 12,563 cases and 12,622 controls.[基因名称1]和[基因名称2]与阿尔茨海默病的关联：基于对12563例病例和12622例对照的56项基因病例对照研究的荟萃分析。
Exp Ther Med. 2015 May;9(5):1831-1840. doi: 10.3892/etm.2015.2327. Epub 2015 Mar 3.
3
Butyrylcholinesterase K variant and Alzheimer's disease risk: a meta-analysis.丁酰胆碱酯酶K变异体与阿尔茨海默病风险：一项荟萃分析。
Med Sci Monit. 2015 May 16;21:1408-13. doi: 10.12659/MSM.892982.
4
Cerebrospinal fluid (CSF) 25-hydroxyvitamin D concentration and CSF acetylcholinesterase activity are reduced in patients with Alzheimer's disease.脑脊液（CSF）25-羟维生素 D 浓度和 CSF 乙酰胆碱酯酶活性在阿尔茨海默病患者中降低。
PLoS One. 2013 Nov 29;8(11):e81989. doi: 10.1371/journal.pone.0081989. eCollection 2013.
5
A review of butyrylcholinesterase as a therapeutic target in the treatment of Alzheimer's disease.丁酰胆碱酯酶作为阿尔茨海默病治疗靶点的综述。
Prim Care Companion CNS Disord. 2013;15(2). doi: 10.4088/PCC.12r01412. Epub 2013 Mar 7.
6
Alzheimer's disease and type 2 diabetes mellitus: the cholinesterase connection?阿尔茨海默病与2型糖尿病：胆碱酯酶之间的联系？
Lipids Health Dis. 2006 Nov 11;5:28. doi: 10.1186/1476-511X-5-28.
7
Selective inhibitors of butyrylcholinesterase: a valid alternative for therapy of Alzheimer's disease?丁酰胆碱酯酶选择性抑制剂：治疗阿尔茨海默病的有效替代方案？
Drugs Aging. 2001;18(12):891-8. doi: 10.2165/00002512-200118120-00001.
8
Dipeptidyl carboxypeptidase 1 (DCP1) and butyrylcholinesterase (BCHE) gene interactions with the apolipoprotein E epsilon4 allele as risk factors in Alzheimer's disease and in Parkinson's disease with coexisting Alzheimer pathology.二肽基羧肽酶1（DCP1）和丁酰胆碱酯酶（BCHE）基因与载脂蛋白Eε4等位基因的相互作用，作为阿尔茨海默病以及伴有阿尔茨海默病理共存的帕金森病的风险因素。
J Med Genet. 2000 Oct;37(10):766-70. doi: 10.1136/jmg.37.10.766.
9
Butyrylcholinesterase K variant is genetically associated with late onset Alzheimer's disease in Northern Ireland.丁酰胆碱酯酶K变体在基因上与北爱尔兰晚发性阿尔茨海默病相关。
J Med Genet. 2000 Mar;37(3):182-5. doi: 10.1136/jmg.37.3.182.

本文引用的文献

1
No association between the K variant of the butyrylcholinesterase gene and pathologically confirmed Alzheimer's disease.丁酰胆碱酯酶基因的K变体与病理确诊的阿尔茨海默病之间无关联。
Hum Mol Genet. 1998 May;7(5):937-9. doi: 10.1093/hmg/7.5.937.
2
Analysis of the butyrylcholinesterase gene and nearby chromosome 3 markers in Alzheimer disease.阿尔茨海默病中丁酰胆碱酯酶基因及3号染色体附近标记的分析。
Hum Mol Genet. 1998 May;7(5):933-5. doi: 10.1093/hmg/7.5.933.
3
K variant of butyrycholinesterase and late-onset Alzheimer's disease.丁酰胆碱酯酶的K变体与迟发性阿尔茨海默病
Lancet. 1998 Mar 21;351(9106):881. doi: 10.1016/S0140-6736(05)70292-0.
4
Alzheimer diseases: a model of gene mutations and susceptibility polymorphisms for complex psychiatric diseases.阿尔茨海默病：复杂精神疾病的基因突变和易感性多态性模型。
Am J Med Genet. 1998 Feb 7;81(1):49-57. doi: 10.1002/(sici)1096-8628(19980207)81:1<49::aid-ajmg10>3.0.co;2-w.
5
Synergy between the genes for butyrylcholinesterase K variant and apolipoprotein E4 in late-onset confirmed Alzheimer's disease.丁酰胆碱酯酶K变体基因与载脂蛋白E4在晚发型确诊阿尔茨海默病中的协同作用。
Hum Mol Genet. 1997 Oct;6(11):1933-6. doi: 10.1093/hmg/6.11.1933.
6
Association studies in psychiatric genetics.精神遗传学中的关联研究。
Mol Psychiatry. 1997 Jul;2(4):270-3. doi: 10.1038/sj.mp.4000292.
7
Amyloid, the presenilins and Alzheimer's disease.淀粉样蛋白、早老素与阿尔茨海默病
Trends Neurosci. 1997 Apr;20(4):154-9. doi: 10.1016/s0166-2236(96)01030-2.
8
Detection of the plasma cholinesterase K variant by PCR using an amplification-created restriction site.利用扩增产生的限制性酶切位点通过聚合酶链式反应检测血浆胆碱酯酶K变异体。
Hum Hered. 1996 Jan-Feb;46(1):26-31. doi: 10.1159/000154321.
9
Apolipoprotein E and Alzheimer disease.载脂蛋白E与阿尔茨海默病。
Proc Natl Acad Sci U S A. 1995 May 23;92(11):4725-7. doi: 10.1073/pnas.92.11.4725.
10
On the identification and frequency of the J and K cholinesterase phenotypes in a Caucasian population.关于白种人群中J和K胆碱酯酶表型的鉴定及频率
J Med Genet. 1984 Apr;21(2):99-102. doi: 10.1136/jmg.21.2.99.

丁酰胆碱酯酶K变体与阿尔茨海默病易感性

The butyrylcholinesterase K variant and susceptibility to Alzheimer's disease.

作者信息

Kehoe P G, Williams H, Holmans P, Wilcock G, Cairns N J, Neal J, Owen M J

机构信息

Neuropsychiatric Genetics Unit, Division of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, UK.

出版信息

J Med Genet. 1998 Dec;35(12):1034-5. doi: 10.1136/jmg.35.12.1034.

DOI:10.1136/jmg.35.12.1034
PMID:9863603
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051518/
Abstract

Previous work has shown an association between the K variant of the butyrylcholinesterase (BCHE) gene and Alzheimer's disease (AD) in patients carrying the epsilon4 allele of ApoE. We attempted to replicate this finding in 181 UK white AD cases and 71 controls. No difference was found in BCHE-K genotypes (p=0.75) or alleles (p=0.70) between patients and controls. Moreover, despite a significant excess of ApoE epsilon4 in patients versus controls (p<0.0001), we found no evidence to support previous reports of an interaction between ApoE and BCHE-K (chi2=1.49, df=4, p=0.83).

摘要

先前的研究表明，在携带载脂蛋白E（ApoE）ε4等位基因的患者中，丁酰胆碱酯酶（BCHE）基因的K变体与阿尔茨海默病（AD）之间存在关联。我们试图在181例英国白人AD病例和71例对照中重复这一发现。患者和对照之间在BCHE-K基因型（p=0.75）或等位基因（p=0.70）方面未发现差异。此外，尽管患者中的ApoE ε4显著多于对照（p<0.0001），但我们没有发现证据支持先前关于ApoE与BCHE-K之间相互作用的报道（χ2=1.49，自由度=4，p=0.83）。