TY - T1的全基因组关联研究脑脊液生物标志物Aβ<子> 1-42 < /订阅>,t-tau, p-tau <子> 181 p < /订阅> ADNI队列JF -神经学乔-神经病学SP - 69 LP - 79 - 10.1212 / WNL。首页0 b013e318204a397六世- 76 - 1 AU - s金盟- s Swaminathan AU - l .沈盟S.L. Risacher AU - k Nho AU - t . Foroud盟L.M.肖盟J.Q. Trojanowski AU -密度舰“盟M.J. eric reiman AU - D.W.克雷格盟B.M. DeChairo盟直彼得森-注:爱森盟盟- M.W.维纳盟A.J. Saykin Y1 - 2011/01/04 UR - //www.ez-admanager.com/content/76/1/69.abstract N2 -目标:CSF水平的Aβ1-42,t-tau, p-tau181p潜在可能的阿尔茨海默病(AD)的首页早期诊断标志物。遗传变异的影响在这些标记已经调查了候选基因但不是在全基因组的基础上。我们报告一个全基因组关联研究(GWAS)脑脊液生物标志物(Aβ1-42、t-tau p-tau181p, p-tau181p / Aβ1-42和t-tau / Aβ1-42)。方法:共有374名非西班牙裔白人参与者的阿尔茨海默病的神经影像学研究质量受控CSF和基因型数据包括在分析中。单核苷酸多态性(snp)的主要效应下的加性遗传模型评估在每5脑脊液生物标记。所有snp的p值为每个脑脊液生物标志物被Bonferroni调整的多重比较方法。我们专注于单核苷酸多态性与纠正p & lt;0.01(未修正的p & lt;3.10×10−8),其次研究了单核苷酸多态性与未修正的p值小于10−5来识别潜在的候选人。 Results: Four SNPs in the regions of the APOE, LOC100129500, TOMM40, and EPC2 genes reached genome-wide significance for associations with one or more CSF biomarkers. SNPs in CCDC134, ABCG2, SREBF2, and NFATC4, although not reaching genome-wide significance, were identified as potential candidates. Conclusions: In addition to known candidate genes, APOE, TOMM40, and one hypothetical gene LOC100129500 partially overlapping APOE; one novel gene, EPC2, and several other interesting genes were associated with CSF biomarkers that are related to AD. These findings, especially the new EPC2 results, require replication in independent cohorts. ER -