rs5848 polymorphism and serum progranulin level

Yin F, Banerjee R, Thomas B, Zhou P, Qian L, Jia T, et al. Exaggerated inflammation, impaired host defense, and neuropathology in progranulin-deficient mice. J Exp Med 2010;207(1):117–28, S1–4. He, 2003, Progranulin (granulin–epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis, J Mol Med, 81, 600, 10.1007/s00109-003-0474-3 Tolkatchev, 2008, Structure dissection of human progranulin identifies well-folded granulin/epithelin modules with unique functional activities, Protein Sci, 17, 711, 10.1110/ps.073295308 Daniel, 2000, Cellular localization of gene expression for progranulin, J Histochem Cytochem, 48, 999, 10.1177/002215540004800713 Flanders Interuniversity Institute for Biotechnology B. http://www.molgen.ua.ac.be/FTDMutations/. In: Flanders Interuniversity Institute for Biotechnology. Cruts, 2006, Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21, Nature, 442, 920, 10.1038/nature05017 Baker, 2006, Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17, Nature, 442, 916, 10.1038/nature05016 Sleegers, 2009, Serum biomarker for progranulin-associated frontotemporal lobar degeneration, Ann Neurol, 65, 603, 10.1002/ana.21621 Ghidoni, 2008, Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration, Neurology, 71, 1235, 10.1212/01.wnl.0000325058.10218.fc Finch, 2009, Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members, Brain, 132, 583, 10.1093/brain/awn352 Rademakers, 2008, Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia, Hum Mol Genet, 17, 3631, 10.1093/hmg/ddn257 Simon-Sanchez, 2009, Variation at GRN 3′-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population, PLoS ONE, 4, e7494, 10.1371/journal.pone.0007494 Rollinson S, Rohrer JD, van der Zee J, Sleegers K, Mead S, Engelborghs S, et al. No association of PGRN 3′UTR rs5848 in frontotemporal lobar degeneration. Neurobiol Aging in press. doi:10.1016/j.neurobiolaging.2009.04.009. Brouwers, 2008, Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease, Neurology, 71, 656, 10.1212/01.wnl.0000319688.89790.7a Fenoglio, 2009, Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease, J Alzheimers Dis, 18, 603, 10.3233/JAD-2009-1170 McKhann, 1984, Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease, Neurology, 34, 939, 10.1212/WNL.34.7.939 Neary, 1998, Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria, Neurology, 51, 1546, 10.1212/WNL.51.6.1546 Petersen, 1999, Mild cognitive impairment: clinical characterization and outcome, Arch Neurol, 56, 303, 10.1001/archneur.56.3.303 Petersen, 2001, Current concepts in mild cognitive impairment, Arch Neurol, 58, 1985, 10.1001/archneur.58.12.1985 Nasreddine, 2005, The Montreal Cognitive Assessment, MoCA: a brief screening tool for mild cognitive impairment, J Am Geriatr Soc, 53, 695, 10.1111/j.1532-5415.2005.53221.x Sleegers, 2008, Progranulin genetic variability contributes to amyotrophic lateral sclerosis, Neurology, 71, 253, 10.1212/01.wnl.0000289191.54852.75 Coppola, 2008, Gene expression study on peripheral blood identifies progranulin mutations, Ann Neurol, 64, 92, 10.1002/ana.21397 Mackenzie, 2008, The role of transactive response DNA-binding protein-43 in amyotrophic lateral sclerosis and frontotemporal dementia, Curr Opin Neurol, 21, 693, 10.1097/WCO.0b013e3283168d1d Kelley, 2009, Prominent phenotypic variability associated with mutations in progranulin, Neurobiol Aging, 30, 739, 10.1016/j.neurobiolaging.2007.08.022 Kertesz, 2008, Frontotemporal dementia: a topical review, Cogn Behav Neurol, 21, 127, 10.1097/WNN.0b013e31818a8c66 Hsiung GY, Feldman H. GRN-Related Frontotemporal Dementia: in GeneReivews. available at http://www.ncbi.nlm.nih.gov/sites/GeneTests/. In: NIH / University of Washington, Seattle, WA, USA; 2006. Carecchio, 2009, Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic mild cognitive impairment converted to Alzheimer's disease, J Neurol Sci, 287, 291, 10.1016/j.jns.2009.07.011 Ahmed, 2007, Progranulin in frontotemporal lobar degeneration and neuroinflammation, J Neuroinflammation, 4, 7, 10.1186/1742-2094-4-7 Youn, 2009, Serum progranulin concentrations may be associated with macrophage infiltration into omental adipose tissue, Diabetes, 58, 627, 10.2337/db08-1147