No association of PGRN 3′UTR rs5848 in frontotemporal lobar degeneration
No association of PGRN 3′UTR rs5848 in frontotemporal lobar degeneration
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DOI：
10.1016/j.neurobiolaging.2009.04.009
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发表时间：
2011-04-01
影响因子：
4.2
通讯作者：
Pickering-Brown, Stuart M.
中科院分区：
文献类型：
--
作者：
Rollinson, Sara;Rohrer, Jonathan D.;Pickering-Brown, Stuart M.
额颞叶变性是一种高度家族性的神经退行性疾病。已有研究表明，位于前颗粒蛋白3'UTR的SNP rs5848的纯合性增加了FTLD的风险。我们试图在三个独立的FTLD队列中复制r5848的关联。在任何单个队列中均未观察到rs5848与FTLD的关联，在合并数据时也未观察到任何关联。这些数据表明，r5848不是FTLD的风险因素。(C) 2009爱思唯尔公司版权所有。
Frontotemporal lobar degeneration (FTLD) is a highly familial neurodegenerative disease. It has been claimed that homozygosity of the SNP rs5848 located in the 3'UTR of progranulin increases risk for FTLD. We have attempted to replicate the association of rs5848 in three independent FTLD cohorts. No association of rs5848 with FTLD was observed in any individual cohort nor was any observed when the data was combined. These data argue that rs5848 is not a risk factor for FTLD. (C) 2009 Elsevier Inc. All rights reserved.