Clinical Neurosciences Research Group, Faculty of Human and Medical Sciences, University of Manchester, Oxford Road, Manchester, M13 9PT, UK.
Neurobiol Aging. 2011 Apr;32(4):754-5. doi: 10.1016/j.neurobiolaging.2009.04.009. Epub 2009 May 14.
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.
额颞叶痴呆（FTLD）是一种高度家族性神经退行性疾病。据称，位于颗粒蛋白前体 3'UTR 中的 SNP rs5848 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 rs5848 的关联。在任何一个单独的队列中，rs5848 与 FTLD 均无关联，当数据合并时也未观察到任何关联。这些数据表明 rs5848 不是 FTLD 的危险因素。
