老年痴呆的遗传机制研究进展

被引：13

作者：

金范莹

张宝荣

机构：

[1] 浙江大学医学院附属第二医院神经内科

来源：

生命科学 | 2014年 / 26卷 / 01期

关键词：

阿尔茨海默病; 遗传; 全基因组关联分析;

D O I：

10.13376/j.cbls/2014004

中图分类号：

R749.16 [];

学科分类号：

100203 ;

摘要：

老年痴呆症,又称阿尔茨海默病(Alzheimer’s disease,AD),是威胁老年人健康的主要疾病之一。根据发病年龄,AD可分为早发性(early-onset Alzheimer’s disease,EOAD)和迟发性(late-onset Alzheimer’s disease,LOAD)两种,两者均受到遗传因素的影响。目前已知3个致病基因导致家族性EOAD的发病:淀粉样前体蛋白基因(β-amyloid precursor protein,APP)、早老素1基因(presenilin 1,PSEN1)和早老素2基因(presenilin 2,PSEN2)。而近年来在全基因组关联分析(genome-wide association study,GWAS)等新技术的支持下,研究者相继发现并报道了一系列影响LOAD易感性的风险基因多态性位点。试对上述AD相关致病基因和主要风险基因加以简要介绍,深入探索这些基因的功能有助于对AD病理生理机制的认知。

引用

页码：15 / 26

页数：12

共 69 条

[41]

SORL1 haplotypes modulate risk of Alzheimer's disease in Chinese[J] . E.K. Tan,J. Lee,C.P. Chen,Y.Y. Teo,Y. Zhao,W.L. Lee.Neurobiology of Aging . 2007 (7)

[42]

GAB2 Alleles Modify Alzheimer's Risk in APOE ?4 Carriers[J] . Eric M. Reiman,Jennifer A. Webster,Amanda J. Myers,John Hardy,Travis Dunckley,Victoria L. Zismann,Keta D. Joshipura,John V. Pearson,Diane Hu-Lince,Matthew J. Huentelman,David W. Craig,Keith D. Coon,Winnie S. Liang,RiLee H. Herbert,Thomas Beach,Kristen C. Rohrer,Alice S. Zhao,Doris Leung,Leslie Bryden,Lauren Marlowe,Mona Kaleem,Diego Mastroeni,Andrew Grover,Christopher B. Heward,Rivka Ravid,Joseph Rogers,Michael L. Hutton,Stacey Melqui

[43]

Dementia and mortality in persons with Down’s syndrome[J] . A.Coppus,H.Evenhuis,G.‐J.Verberne,F.Visser,P.Van Gool,P.Eikelenboom,C.Van Duijin.Journal of Intellectual Disability Research . 2006 (10)

[44]

The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease[J] . A.J. Larner,P.S. Ray,M. Doran.Journal of the Neurological Sciences . 2006 (2)

[45]

Angiotensin converting enzyme insertion/deletion polymorphism in sporadic and familial Alzheimer's disease and longevity[J] . Benedetta Nacmias,Silvia Bagnoli,Andrea Tedde,Elena Cellini,Valentina Bessi,Biancamaria Guarnieri,Luigi Ortensi,Silvia Piacentini,Laura Bracco,Sandro Sorbi.Archives of Gerontology and Geriatrics . 2006 (2)

[46] Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample [J].

Rademakers, R ;

Cruts, M ;

Sleegers, K ;

Dermaut, B ;

Theuns, J ;

Aulchenko, Y ;

Weckx, S ;

De Pooter, T ;

Van den Broeck, M ;

Corsmit, E ;

De Rijk, P ;

Del-Favero, J ;

van Swieten, J ;

van Duijn, CM ;

Van Broeckhoven, C .

AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 77 (04) :643-652

[47]

Peripheral clearance of amyloid β peptide by complement C3-dependent adherence to erythrocytes[J] . Joseph Rogers,Rena Li,Diego Mastroeni,Andrew Grover,Brian Leonard,Geoffrey Ahern,Phillip Cao,Heather Kolody,Linda Vedders,William P. Kolb,Marwan Sabbagh.Neurobiology of Aging . 2005 (12)

[48]

PEN–2 gene mutation in a familial Alzheimer’s disease case[J] . C. Sala Frigerio*,P. Piscopo*,E. Calabrese,A. Crestini,L. MalvezziCampeggi,R. Civita di Fava,S. Fogliarino,D. Albani,G. Marcon,R. Cherchi,R. Piras,G. Forloni,A. Confaloni.Journal of Neurology . 2005 (9)

[49]

Amyloid β protein (Aβ) deposition in chromosome 14–linked Alzheimer's disease: Predominance of Aβ42(43)[J] . D. M. A.Mann,T.Iwatsubo,N. J.Cairns,P. L.Lantos,D.Nochlin,S. M.Sumi,T. D.Bird,P.Poorkaj,J.Hardy,M.Hutton,G.Prihar,R.Crook,M. N.Rossor,M.Haltia.Ann Neurol. . 2004 (2)

[50]

Amyloid (Aβ) deposition in chromosome 1–linked Alzheimer's disease: The volga german families[J] . D. M. A.Mann,T.Iwatsubo,D.Nochlin,S. M.Sumi,E.Levy‐Lahad,T. D.Bird.Ann Neurol. . 2004 (1)

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