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. 2011 Apr;32(4):754-5.
doi: 10.1016/j.neurobiolaging.2009.04.009. Epub 2009 May 14.

No association of PGRN 3'UTR rs5848 in frontotemporal lobar degeneration

Sara Rollinson  1 , Jonathan D Rohrer, Julie van der Zee, Kristel Sleegers, Simon Mead, Sebastiaan Engelborghs, John Collinge, Peter P De Deyn, David M A Mann, Christine Van Broeckhoven, Stuart M Pickering-Brown
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No association of PGRN 3'UTR rs5848 in frontotemporal lobar degeneration

Sara Rollinson et al. Neurobiol Aging. 2011 Apr.

Abstract

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.

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