Association of the RAGE G82S polymorphism with Alzheimer's disease.
Association of the RAGE G82S polymorphism with Alzheimer's disease.
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DOI：
10.1007/s00702-010-0437-0
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发表时间：
2010-07
影响因子：
3.3
通讯作者：
Zetterberg, Henrik
中科院分区：
文献类型：
--
作者：
Daborg, Jonny;von Otter, Malin;Sjolander, Annica;Nilsson, Staffan;Minthon, Lennart;Gustafson, Deborah R.;Skoog, Ingmar;Blennow, Kaj;Zetterberg, Henrik
晚期糖基化终产物受体（receptor for advanced glycation end-products，ARG）参与了阿尔茨海默病（Alzheimer's disease，AD）的多种病理生理过程，包括AD相关β淀粉样蛋白（amyloid β，Aβ）肽的转运和突触毒性。最近的一项中国研究（Li等，J Neural Transm 117：97-104）表明RAGE编码基因AGER中功能性单核苷酸多态性（SNP）G82 S（rs 2070600）的82 S等位基因与AD风险之间存在关联。本研究的目的是在一个由316例神经化学证实的AD病例和579例对照组成的欧洲队列中调查AGER、AD诊断、认知评分和脑脊液AD生物标志物之间的相关性。除了G82 S之外，还分析了三个额外的标签SNP以覆盖AGER中的常见遗传变异。82 S等位基因与AD发病风险增加相关（Pc = 0.04，OR = 2.0，95% CI 1.2-3.4）。AGER 82 S和APOE ε4之间无遗传交互作用（P = 0.4），AGER 82 S和APOE ε4之间无遗传交互作用（P = 0.4），AGER 82 S和APOE ε 4与Aβ42、T-tau、P-tau 181和简易精神状态检查量表评分无相关性。数据表明AGER对AD风险的影响很弱，但很重要。
The receptor for advanced glycation end-products (RAGE) has been implicated in several pathophysiological processes relevant to Alzheimer’s disease (AD), including transport and synaptotoxicity of AD-associated amyloid β (Aβ) peptides. A recent Chinese study (Li et al. in J Neural Transm 117:97–104,) suggested an association between the 82S allele of the functional single nucleotide polymorphism (SNP) G82S (rs2070600) in the RAGE-encoding gene AGER and risk of AD. The present study aimed to investigate associations between AGER, AD diagnosis, cognitive scores and cerebrospinal fluid AD biomarkers in a European cohort of 316 neurochemically verified AD cases and 579 controls. Aside from G82S, three additional tag SNPs were analyzed to cover the common genetic variation in AGER. The 82S allele was associated with increased risk of AD (P c = 0.04, OR = 2.0, 95% CI 1.2–3.4). There was no genetic interaction between AGER 82S and APOE ε4 in producing increased risk of AD (P = 0.4), and none of the AGER SNPs showed association with Aβ42, T-tau, P-tau181 or mini-mental state examination scores. The data speak for a weak, but significant effect of AGER on risk of AD.
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DOI：
10.1016/s0140-6736(20)32205-4
发表时间：
2021-04-24
期刊：
Lancet (London, England)
影响因子：
--
作者：
Scheltens P;De Strooper B;Kivipelto M;Holstege H;Chételat G;Teunissen CE;Cummings J;van der Flier WM
通讯作者：
van der Flier WM
影响因子：
2.9
作者：
Miller, Miles C.;Tavares, Rosemarie;Johanson, Conrad E.;Hovanesian, Virginia;Donahue, John E.;Gonzalez, Liliana;Silverberg, Gerald D.;Stopa, Edward G.
通讯作者：
Stopa, Edward G.
影响因子：
82.9
作者：
Deane, R;Yan, SD;Zlokovic, B
通讯作者：
Zlokovic, B
影响因子：
5
作者：
Hofmann, MA;Drury, S;Schmidt, AM
通讯作者：
Schmidt, AM
影响因子：
5.3
作者：
Blomqvist, MEL;Reynolds, C;Prince, JA
通讯作者：
Prince, JA