Cerebrospinal fluid cortisol concentrations in healthy elderly are affected by both APOE and TOMM40 variants.
Cerebrospinal fluid cortisol concentrations in healthy elderly are affected by both APOE and TOMM40 variants.
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DOI：
10.1016/j.psyneuen.2011.07.006
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发表时间：
2012-03
影响因子：
3.7
通讯作者：
Pomara, Nunzio
中科院分区：
文献类型：
--
作者：
Bruno, Davide;Nierenberg, Jay J.;Ritchie, James C.;Lutz, Michael W.;Pomara, Nunzio
据报道，阿尔茨海默病（AD）患者的下丘脑-垂体-肾上腺（HPA）轴异常，可能包括脑脊液（CSF）皮质醇浓度升高。此外，APOE ε4等位基因的存在，这是AD发展的一个既定风险因素，已被证明与较高的CSF皮质醇水平相关，特别是在AD患者中。在这项研究中，我们研究了TOMM 40变体是否影响AD的发病年龄，也影响CSF皮质醇水平，在健康，认知完整的个体中，有或没有APOE ε4。在我们的研究结果中，只有当短TOMM 40多聚T变异体（与ε4携带者AD发病年龄晚相关）不存在时，才检测到与APOE ε4等位基因存在相关的CSF皮质醇增加。这些结果与以前的报告一致（例如，）提示TOMM 40多聚T变异体影响APOE等位基因的作用。
Abnormalities of the hypothalamic-pituitary-adrenal (HPA) axis have been reported in subjects with Alzheimer’s disease (AD) and may include increased cerebrospinal fluid (CSF) cortisol concentrations. Moreover, presence of the APOE ε4 allele, which is an established risk factor for the development of AD, has been shown to associate with higher CSF cortisol levels, especially in AD sufferers. In this study, we examined whether TOMM40 variants, which have been reported to influence age of onset of AD, also had an effect on CSF cortisol levels, in healthy, cognitively intact individuals with or without APOE ε4. In our results, the increase in CSF cortisol associated with the presence of the APOE ε4 allele was only detected when a short TOMM40 poly-T variant, shown to associate with later age of onset of AD in ε4 carriers, was not when present. These results are consistent with previous reports (e.g.,) suggesting that TOMM40 poly-T variants influence the effects of APOE alleles.
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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：
9.9
作者：
Peskind, ER;Wilkinson, CW;Raskind, MA
通讯作者：
Raskind, MA
影响因子：
9.9
作者：
Jack, CR;Petersen, RC;Kokmen, E
通讯作者：
Kokmen, E
DOI：
10.1176/appi.ajp.2010.09111575
发表时间：
2010-11
期刊：
The American journal of psychiatry
影响因子：
--
作者：
Donix M;Burggren AC;Suthana NA;Siddarth P;Ekstrom AD;Krupa AK;Jones M;Martin-Harris L;Ercoli LM;Miller KJ;Small GW;Bookheimer SY
通讯作者：
Bookheimer SY
影响因子：
2.7
作者：
Roozendaal, B
通讯作者：
Roozendaal, B