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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。

Analysis of the butyrylcholinesterase gene and nearby chromosome 3 markers in Alzheimer disease.

作者信息

Brindle N, Song Y, Rogaeva E, Premkumar S, Levesque G, Yu G, Ikeda M, Nishimura M, Paterson A, Sorbi S, Duara R, Farrer L, St George-Hyslop P

机构信息

Centre for Research in Neurodegenerative Diseases, Department of Medicine (Division of Neurology), University of Toronto, Toronto, Ontario, Canada.

出版信息

Hum Mol Genet. 1998 May;7(5):933-5. doi: 10.1093/hmg/7.5.933.

DOI:10.1093/hmg/7.5.933
PMID:9536099
Abstract

The K-variant of butyrylcholinesterase (BCHE-K) recently has been reported to be associated with Alzheimer disease (AD) in carriers of the epsilon4 allele of the apolipoprotein E (APOE) gene. We have re-examined the frequency of the BCHE-K allele in a large data set of both sporadic and familial cases of AD disease, and we have also examined the segregation of three genetic markers on chromosome 3 near BCHE . Our data neither support an association of BCHE-K with sporadic or familial AD, nor do they suggest the existence of another gene nearby on chromosome 3 as a common cause of familial AD.

摘要

最近有报道称,丁酰胆碱酯酶的K变体(BCHE-K)与载脂蛋白E(APOE)基因ε4等位基因携带者的阿尔茨海默病(AD)有关。我们在一个包含散发性和家族性AD病例的大型数据集中重新检查了BCHE-K等位基因的频率,并且还研究了3号染色体上靠近BCHE的三个遗传标记的分离情况。我们的数据既不支持BCHE-K与散发性或家族性AD相关,也不表明3号染色体上附近存在另一个基因是家族性AD的常见病因。

相似文献

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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.
2
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.
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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。
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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。
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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
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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。
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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。
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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。
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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。
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引用本文的文献

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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.
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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.
3
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.
4
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.
5
Interleukin-1 and the immunogenetics of Alzheimer disease.白细胞介素-1与阿尔茨海默病的免疫遗传学
J Neuropathol Exp Neurol. 2000 Jun;59(6):471-6. doi: 10.1093/jnen/59.6.471.
6
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.
7
Genetic risk factors in Alzheimer's disease.阿尔茨海默病的遗传风险因素。
Mol Pathol. 1998 Dec;51(6):293-304. doi: 10.1136/mp.51.6.293.
8
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.