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BRAIN and NERVE-神経研究の進歩71巻10号

2019年10月発行

特集 認知症と遺伝

アルツハイマー病リスク因子としてのアポリポ蛋白E4

著者: 菊地正隆1 中谷明弘1

所属機関: 1大阪大学大学院医学系研究科ゲノム情報学共同研究講座

ページ範囲:P.1053 - P.1060

文献概要

これまで行われてきたアルツハイマー病(AD)のゲノム解析において,アポリポ蛋白E(APOE)はほとんどの人種をとおして普遍的かつ強力なリスク因子である。しかし,APOEのADへの寄与は多岐にわたり,既知の機能だけでADとの関わりを説明するのは難しい。本論ではAPOEについて再考するとともに,近年わかってきた脳内におけるAPOEの多面的機能とADとの関係を報告する。

参考文献

1)Shore VG, Shore B: Heterogeneity of human plasma very low density lipoproteins. Separation of species differing in protein components. Biochemistry 12: 502-507, 1973
2)Mahley RW: Apolipoprotein E and cholesterol metabolism. Klin Wochenschr 61: 225-232, 1983
3)Shelburne FA, Quarfordt SH: A new apoprotein of human plasma very low density lipoproteins. J Biol Chem 249: 1428-1433, 1974
4)Utermann G: Isolation and partial characterization of an arginine-rich apolipoprotein from human plasma very-low-density lipoproteins: apolipoprotein E. Hoppe Seylers Z Physiol Chem 356: 1113-1121, 1975
5)Utermann G, Hees M, Steinmetz A: Polymorphism of apolipoprotein E and occurrence of dysbetalipoproteinaemia in man. Nature 269: 604-607, 1977
6)Schneider WJ, Kovanen PT, Brown MS, Goldstein JL, Utermann G, et al: Familial dysbetalipoproteinemia. Abnormal binding of mutant apoprotein E to low density lipoprotein receptors of human fibroblasts and membranes from liver and adrenal of rats, rabbits, and cows. J Clin Invest 68: 1075-1085, 1981
7)Zannis VI, Breslow JL, Utermann G, Mahley RW, Weisgraber KH, et al: Proposed nomenclature of apoE isoproteins, apoE genotypes, and phenotypes. J Lipid Res 23: 911-914, 1982
8)Davignon J, Gregg RE, Sing CF: Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis 8: 1-21, 1988
9)Weisgraber KH, Rall SC Jr, Innerarity TL, Mahley RW, Kuusi T, et al: A novel electrophoretic variant of human apolipoprotein E. Identification and characterization of apolipoprotein E1. J Clin Invest 73: 1024-1033, 1984
10)Yamamura T, Yamamoto A, Hiramori K, Nambu S: A new isoform of apolipoprotein E--apo E-5--associated with hyperlipidemia and atherosclerosis. Atherosclerosis 50: 159-172, 1984
11)Yamamura T, Yamamoto A, Sumiyoshi T, Hiramori K, Nishioeda Y, et al: New mutants of apolipoprotein E associated with atherosclerotic diseases but not to type III hyperlipoproteinemia. J Clin Invest 74: 1229-1237, 1984
12)Youn YC, Lim YK, Han SH, Giau VV, Lee MK, et al: Apolipoprotein ε7 allele in memory complaints: insights through protein structure prediction. Clin Interv Aging 12: 1095-1102, 2017
13)Liu CC, Kanekiyo T, Xu H, Bu G: Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy. Nat Rev Neurol 9: 106-118, 2013
14)Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, et al: Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 261: 921-923, 1993
15)Eisenberg DT, Kuzawa CW, Hayes MG: Worldwide allele frequencies of the human apolipoprotein E gene: climate, local adaptations, and evolutionary history. Am J Phys Anthropol 143: 100-111, 2010
16)Singh PP, Singh M, Mastana SS: APOE distribution in world populations with new data from India and the UK. Ann Hum Biol 33: 279-308, 2006
17)Fullerton SM, Clark AG, Weiss KM, Nickerson DA, Taylor SL, et al: Apolipoprotein E variation at the sequence haplotype level: implications for the origin and maintenance of a major human polymorphism. Am J Hum Genet 67: 881-900, 2000
18)Keren-Shaul H, Spinrad A, Weiner A, Matcovitch-Natan O, Dvir-Szternfeld R, et al: A unique microglia type associated with restricting development of Alzheimer's disease. Cell 169: 1276-1290. e17, 2017
19)Huang YA, Zhou B, Wernig M, Südhof TC: ApoE2, ApoE3, and ApoE4 differentially stimulate APP transcription and Aβ secretion. Cell 168: 427-441, 2017
20)Rasmussen KL, Tybjaerg-Hansen A, Nordestgaard BG, Frikke-Schmidt R: Plasma levels of apolipoprotein E and risk of dementia in the general population. Ann Neurol 77: 301-311, 2015
21)Shinohara M, Petersen RC, Dickson DW, Bu G: Brain regional correlation of amyloid-β with synapses and apolipoprotein E in non-demented individuals: potential mechanisms underlying regional vulnerability to amyloid-β accumulation. Acta Neuropathol 125: 535-547, 2013
22)Roadmap Epigenomics Project: Integrative analysis of 111 reference human epigenomes. 2015 https://egg2.wustl.edu/roadmap/web_portal/index.html(最終閲覧日2019年8月22日)
23)Kikuchi M, Hara N, Hasegawa M, Miyashita A, Kuwano R, et al: Enhancer variants associated with Alzheimer's disease affect gene expression via chromatin looping. bioRxiv, 2018[doi: https://doi.org/10.1101/426312]
24)Bekris LM, Lutz F, Yu CE: Functional analysis of APOE locus genetic variation implicates regional enhancers in the regulation of both TOMM40 and APOE. J Hum Genet 57: 18-25, 2012
25)Kim S, Swaminathan S, Shen L, Risacher SL, Nho K, et al: Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort. Neurology 76: 69-79, 2011
26)Ridge PG, Hoyt KB, Boehme K, Mukherjee S, Crane PK, et al: Assessment of the genetic variance of late-onset Alzheimer's disease. Neurobiol Aging 41: 200. e13-e20, 2016[doi: 10.1016/j.neurobiolaging.2016.02.024]
27)Gatz M, Pedersen NL, Berg S, Johansson B, Johansson K, et al: Heritability for Alzheimer's disease: the study of dementia in Swedish twins. J Gerontol A Biol Sci Med Sci 52: M117-M125, 1997
28)Escott-Price V, Sims R, Bannister C, Harold D, Vronskaya M, et al: Common polygenic variation enhances risk prediction for Alzheimer's disease. Brain 138: 3673-3684, 2015
29)Mormino EC, Sperling RA, Holmes AJ, Buckner RL, De Jager PL, et al: Polygenic risk of Alzheimer disease is associated with early- and late-life processes. Neurology 87: 481-488, 2016
30)竹之内隆夫: 秘密計算による安全なデータ共有—秘密計算技術の概要と社会実装に向けた課題. 情報処理59: 874-879, 2018
31)日本電気株式会社, 国立大学法人大阪大学, 国立研究開発法人日本医療研究開発機構: NEC・大阪大学,複数機関が保有するゲノム情報をプライバシー侵害リスクを抑えて解析できることを実証—データを暗号化したまま解析できる秘密計算で実現. 大阪大学プレスリリース, 2019 http://www.med.osaka-u.ac.jp/archives/18634(最終閲覧日2019年7月30日)

掲載誌情報

出版社:株式会社医学書院

電子版ISSN:1344-8129

印刷版ISSN:1881-6096

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