跨膜蛋白106B基因（TMEM106B）的变异性及其对阿尔茨海默病患者血浆原颗粒蛋白水平的影响。
Transmembrane protein 106B gene (TMEM106B) variability and influence on progranulin plasma levels in patients with Alzheimer's disease.
作者信息
Serpente Maria, Fenoglio Chiara, Clerici Francesca, Bonsi Rossana, Arosio Beatrice, Cioffi Sara M G, Rotondo Emanuela, Franceschi Massimo, Martinelli Boneschi Filippo, Mari Daniela, Mariani Claudio, Scarpini Elio, Galimberti Daniela
机构信息
Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Milan, Italy.
Center for Research and Treatment on Cognitive Dysfunctions, Chair of Neurology, University of Milan, "Luigi Sacco" Hospital, Milan, Italy.
出版信息
J Alzheimers Dis. 2015;43(3):757-61. doi: 10.3233/JAD-141167.
We carried out an association study of transmembrane protein 106B gene (TMEM106B) rs1020004 A/G, rs6966915C/T, and rs1990622 A/G in a population of 656 patients with Alzheimer's disease (AD) and 619 controls, and tested whether the rs1990622 influences plasma progranulin levels. No differences in allele and genotype distribution were observed between cases and controls, even stratifying according to APOE status (p > 0.05). No differences in progranulin plasma levels were found between carriers of the rs1990622 and non-carriers. TMEM106b variability does not influence AD risk or plasma levels. Replication, preferably in a population with pathological confirmation, is required to confirm these results.
我们对656例阿尔茨海默病（AD）患者和619例对照人群进行了跨膜蛋白106B基因（TMEM106B）rs1020004 A/G、rs6966915C/T和rs1990622 A/G的关联研究，并检测rs1990622是否影响血浆前颗粒蛋白水平。病例组和对照组之间在等位基因和基因型分布上未观察到差异，即使根据APOE状态进行分层也是如此（p>0.05）。rs1990622携带者和非携带者之间的血浆前颗粒蛋白水平没有差异。TMEM106b的变异性不影响AD风险或血浆水平。需要进行重复研究，最好是在有病理确诊的人群中进行，以证实这些结果。
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