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

被引：35

作者：

Rollinson, Sara ^{[1
]}

Rohrer, Jonathan D. ^{[2
]}

van der Zee, Julie ^{[3
]}

Sleegers, Kristel ^{[3
]}

Mead, Simon ^{[8
]}

Engelborghs, Sebastiaan ^{[4
,5
,6
,7
]}

Collinge, John ^{[8
]}

De Deyn, Peter P. ^{[4
,5
,6
,7
]}

Mann, David M. A. ^{[9
]}

Van Broeckhoven, Christine ^{[3
]}

Pickering-Brown, Stuart M. ^{[1
]}

机构：

[1] Univ Manchester, Clin Neurosci Res Grp, Fac Human & Med Sci, Manchester M13 9PT, Lancs, England

[2] Inst Neurol, De Mentia Res Ctr, London WC1N 3BG, England

[3] VIB, Neurodegenerat Brain Dis Grp, Dept Mol Genet, Antwerp, Belgium

[4] Univ Antwerp, B-2020 Antwerp, Belgium

[5] Inst Born Bunge, Antwerp, Belgium

[6] ZNA Middelheim, Memory Clin, Antwerp, Belgium

[7] ZNA Middelheim, Dept Neurol, Antwerp, Belgium

[8] UCL Inst Neurol, MRC Prion Unit, Dept Neurodegenerat Dis, London WC1N 3BG, England

[9] Univ Manchester, Hope Hosp, Clin Neurosci Res Grp, Fac Human & Med Sci,Greater Manchester Neurosci C, Salford M6 8HD, Lancs, England

来源：

NEUROBIOLOGY OF AGING | 2011年 / 32卷 / 04期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

Progranulin; PGRN; Frontotemporal lobar degeneration; Rs5848; TDP-43; DEMENTIA;

D O I：

10.1016/j.neurobiolaging.2009.04.009

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

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.

引用

页码：754 / 755

页数：2

共 2 条

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