Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with alzheimer's disease

Journal of Alzheimer's Disease

Volumn 18, Issue 3, 2009, Pages 603-612

  Fenoglio, Chiara ^a   Galimberti, Daniela ^a   Cortini, Francesca ^a   Kauwe, John S K ^b   Cruchaga, Carlos ^b   Venturelli, Eliana ^a   Villa, Chiara ^a   Serpente, Maria ^a   Scalabrini, Diego ^a   Mayo, Kevin ^b   Piccio, Laura M ^a,b   Clerici, Francesca ^c   Albani, Diego ^d   Mariani, Claudio ^c   Forloni, Gianluigi ^d   Bresolin, Nereo ^a   Goate, Alison M ^b   Scarpini, Elio ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF MILAN   (Italy)

^d MARIO NEGRI INSTITUTE FOR PHARMACOLOGICAL RESEARCH   (Italy)

Author keywords

Alzheimer's disease (AD); Cerebrospinal fluid (CSF); Peripheral mononuclear cells (PBMC); Progranulin (GRN); Single nucleotide polymorphism (SNP)

Indexed keywords

MESSENGER RNA; PROGRANULIN;

AGED; ALZHEIMER DISEASE; ARTICLE; BRAIN CELL; CELL ISOLATION; CEREBROSPINAL FLUID; CONTROLLED STUDY; DISEASE PREDISPOSITION; FEMALE; GENE EXPRESSION; GENE REPLICATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; PARIETAL LOBE; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL;

EID: 75149192605     PISSN: 13872877     EISSN: None     Source Type: Journal    
DOI: 10.3233/JAD-2009-1170     Document Type: Article

References (38)

1. Fratiglioni L, De Ronchi D, Agüero-Torres H (1999) Worldwide prevalence and incidence of dementia. Drugs Aging 15, 365-375.
2. Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, Snowden J, Adamson J, Sadovnick AD, Rollinson S, Cannon A, Dwosh E, Neary D, Melquist S, Richardson A, Dickson D, Berger Z, Eriksen J, Robinson T, Zehr C, Dickey CA, Crook R, McGowan E, Mann D, Boeve B, Feldman H, Hutton M (2006) Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 442, 916-919. (Pubitemid 44285946)
3. Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, Pirici D, Rademakers R, Vandenberghe R, Dermaut B, Martin JJ, van Duijn C, Peeters K, Sciot R, Santens P, De Pooter T, Mattheijssens M, Van den Broeck M, Cuijt I, Vennekens K, De Deyn PP, Kumar-Singh S, Van Broeckhoven C (2006) Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 442, 920-924. (Pubitemid 44285947)
4. Zhu J, Nathan C, Jin W, Sim D, Ashcroft GS, Wahl SM, Lacomis L, Erdjument-Bromage H, Tempst P, Wright CD, Ding A (2002) Conversion of proepithelin to epithelins: roles of SLPI and elastase in host defense and wound repair. Cell 111, 867-878.
5. Ahmed Z, Mackenzie IR, Hutton ML, Dickson DW (2007) Progranulin in frontotemporal lobar degeneration and neuroinflammation. J Neuroinflammation 4, 7.
6. Daniel R, He Z, Carmichael KP, Halper J, Bateman A (2000) Cellular localization of gene expression for progranulin. J Histochem Cytochem 48, 999-1009.
7. Coppola G, Karydas A, Rademakers R, Wang Q, Baker M, Hutton M, Miller BL, Geschwind DH (2008) Gene expression study on peripheral blood identifies progranulin mutations. Ann Neurol 64, 92-96.
8. Brouwers N, Nuytemans K, van der Zee J, Gijselinck I, Engelborghs S, Theuns J, Kumar-Singh S, Pickut BA, Pals P, Dermaut B, Bogaerts V, De Pooter T, Serneels S, Van den Broeck M, Cuijt I, Mattheijssens M, Peeters K, Sciot R, Martin JJ, Cras P, Santens P, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, Sleegers K (2007) Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family. Arch Neurol 64, 1436-1446.
9. Brouwers N, Sleegers K, Engelborghs S, Maurer-Stroh S, Gijselinck I, van der Zee J, Pickut BA, Van den Broeck M, Mattheijssens M, Peeters K, Schymkowitz J, Rousseau F, Martin JJ, Cruts M, De Deyn PP, Van Broeckhoven C (2008) Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease. Neurology 71, 656-664.
10. Cortini F, Fenoglio C, Guidi I,Venturelli E, Pomati S, Marcone A, Scalabrini D, Villa C, Clerici F, Dalla Valle E, Mariani C, Cappa S, Bresolin N, Scarpini E, Galimberti D (2008) Novel exon 1 progranulin gene variant in Alzheimer's disease. Eur J Neurol 15, 1111-1117.
11. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM (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, 939-944.
12. Berg L, McKeel DW Jr, Miller JP, Storandt M, Rubin EH, Morris JC, Baty J, Coats M, Norton J, Goate AM, Price JL, Gearing M, Mirra SS, Saunders AM (1998) Clinicopathologic studies in cognitively healthy aging and Alzheimer's disease: relation of histologic markers to dementia severity, age, sex, and apolipoprotein E genotype. Arch Neurol 55, 326-335.
13. Del Bo R, Comi GP, Bresolin N, Castelli E, Conti E, Degiuli A, Ausenda CD, Scarlato G(1997) The apolipoprotein E epsilon4 allele causes a faster decline of cognitive performances in Down's syndrome subjects. J Neurol Sci 145, 87-91.
14. Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, Adamson J, Crook R, Melquist S, Kuntz K, Petersen R, Josephs K, Pickering-Brown SM, Graff-Radford N, Uitti R, Dickson D, Wszolek Z, Gonzalez J, Beach TG, Bigio E, Johnson N, Weintraub S, Mesulam M, White CL 3rd,Woodruff B, Caselli R, Hsiung GY, Feldman H, Knopman D, Hutton M, Rademakers R (2006) Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet 15, 2988-3001. (Pubitemid 44530703)
15. Fenoglio C, Galimberti D, Ban M, Maranian M, Scalabrini D, Venturelli E, Piccio L, De Riz M, Yeo TW, Goris A, Gray J, Bresolin N, Scarpini E, Compston A, Sawcer S (2006) SELPLG and SELP single-nucleotide polymorphisms in multiple sclerosis. Neurosci Lett 394, 92-96.
16. Mukherjee O, Kauwe JS, Mayo K, Morris JC, Goate AM (2007) Haplotype-based association analysis of the MAPT locus in late onset Alzheimer's disease. BMC Genet 8, 3.
17. Livak KJ, Schmittgen TD (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)). Methods 25, 402-408.
18. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D (2002) The structure of haplotype blocks in the human genome. Science 296, 2225-2229.
19. Rademakers R, Eriksen JL, Baker M, Robinson T, Ahmed Z, Lincoln SJ, Finch N, Rutherford NJ, Crook RJ, Josephs KA, Boeve BF, Knopman DS, Petersen RC, Parisi JE, Caselli RJ, Wszolek ZK, Uitti RJ, Feldman H, Hutton ML, Mackenzie IR, Graff-Radford NR, Dickson DW(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, 3631-3642.
20. Marshall E (2004) Getting the noise out of gene arrays. Science 306, 630-631.
21. Ein-Dor L, Zuk O, Domany E (2006) Thousands of samples are needed to generate a robust gene list for predicting outcome in cancer. Proc Natl Acad Sci USA 103, 5923-5928.
22. Qin LX, Beyer RP, Hudson FN, Linford NJ, Morris DE, Kerr KF (2006) Evaluation of methods for oligonucleotide array data via quantitative real-time PCR. BMC Bioinformatics 7, 23.
23. Arikawa E, Sun Y, Wang J, Zhou Q, Ning B, Dial SL, Guo L, Yang J (2008) Cross-platform comparison of SYBR Green real-time PCR with TaqMan PCR, microarrays and other gene expression measurement technologies evaluated in the MicroArray Quality Control (MAQC) study. BMC Genomics 9, 328.
24. Chen JJ, Hsueh HM, Delongchamp RR, Lin CJ, Tsai CA (2007) Reproducibility of microarray data: a further analysis of microarray quality control (MAQC) data. BMC Bioinformatics 8, 412.
25. Shi L, Jones WD,Jensen RV, Harris SC, Perkins RG, Goodsaid FM, Guo L, Croner LJ, Boysen C, Fang H, Qian F, Amur S, Bao W, Barbacioru CC, Bertholet V, Cao XM, Chu TM, Collins PJ, Fan XH, Frueh FW, Fuscoe JC, Guo X, Han J, Herman D, Hong H, Kawasaki ES, Li QZ, Luo Y, Ma Y, Mei N, Peterson RL, Puri RK, Shippy R, Su Z, Sun YA, Sun H, Thorn B, Turpaz Y,Wang C,Wang SJ,Warrington JA,Willey JC,Wu J, Xie Q, Zhang L, Zhang L, Zhong S, Wolfinger RD, Tong W (2008) The balance of reproducibility, sensitivity, and specificity of lists of differentially expressed genes in microarray studies. BMC Bioinformatics 9 Suppl 9, S10.
26. Sullivan PF, Fan C, Perou CM (2006) Evaluating the comparability of gene expression in blood and brain. Am J Med Genet B Neuropsychiatr Genet 141B, 261-268.
27. Rohrer JD, Warren JD, Omar R, Mead S, Beck J, Revesz T, Holton J, Stevens JM, Al-Sarraj S, Pickering-Brown SM, Hardy J, Fox NC, Collinge J, Warrington EK, Rossor MN (2008) Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene. Arch Neurol 65, 506-513.
28. Mackenzie IR, Baker M, West G, Woulfe J, Qadi N, Gass J, Cannon A, Adamson J, Feldman H, Lindholm C, Melquist S, Pettman R, Sadovnick AD, Dwosh E, Whiteheart SW, Hutton M, Pickering-Brown SM (2006) A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17. Brain 129 (Pt 4), 853-867.
29. Lendon CL, Lynch T, Norton J, McKeel DW Jr, Busfield F, Craddock N, Chakraverty S, Gopalakrishnan G, Shears SD, Grimmett W, Wilhelmsen KC, Hansen L, Morris JC, Goate AM (1998) Hereditary dysphasic disinhibition dementia: a frontotemporal dementia linked to 17q21-22. Neurology 50, 1546-1555.
30. Mukherjee O, Pastor P, Cairns NJ, Chakraverty S, Kauwe JS, Shears S, Behrens MI, Budde J, Hinrichs AL, Norton J, Levitch D, Taylor-Reinwald L, Gitcho M, Tu PH, Tenenholz Grinberg L, Liscic RM, Armendariz J, Morris JC, Goate AM (2006)HDDD2is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin. Ann Neurol 60, 314-322.
31. Rosso SM, Kamphorst W, de Graaf B, Willemsen R, Ravid R, Niermeijer MF, Spillantini MG, Heutink P, van Swieten JC (2001) Familial frontotemporal dementia with ubiquitinpositive inclusions is linked to chromosome 17q21-22. Brain 124(Pt 10), 1948-1957.
32. Snowden JS, Pickering-Brown SM, Mackenzie IR, Richardson AM, Varma A, Neary D, Mann DM (2006) Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia. Brain 129(Pt 11), 3091-3102.
33. Ge B, Gurd S, Gaudin T, Dore C, Lepage P, Harmsen E, Hudson TJ, Pastinen T (2005) Survey of allelic expression using EST mining. Genome Res 15, 1584-1591.
34. Shankaran SS, Capell A, Hruscha AT, Fellerer K, Neumann M, Schmid B, Haass C (2008) Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion. J Biol Chem 283, 1744-1753.
35. Van Damme P, Van Hoecke A, Lambrechts D, Vanacker P, Bogaert E, van Swieten J, Carmeliet P, Van Den Bosch L, Robberecht W(2008) Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival. J Cell Biol 181, 37-41.
36. Ghidoni R, Benussi L, Glionna M, Franzoni M, Binetti G (2008) Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration. Neurology 71, 1235-1239.
37. Sleegers K, Brouwers N, Maurer-Stroh S, van Es MA, Van Damme P, van Vught PW, van der Zee J, Serneels S, De Pooter T, Van den Broeck M, Cruts M, Schymkowitz J, De Jonghe P, Rousseau F, van den Berg LH, Robberecht W, Van Broeckhoven C (2008) Progranulin genetic variability contributes to amyotrophic lateral sclerosis. Neurology 71, 253-259.
38. Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, Hsiung GY, Kelley B, Kuntz K, Steinbart E, Wood EM, Yu CE, Josephs K, Sorenson E, Womack KB, Weintraub S, Pickering-Brown SM, Schofield PR, Brooks WS, Van Deerlin VM, Snowden J, Clark CM, Kertesz A, Boylan K, Ghetti B, Neary D, Schellenberg GD, Beach TG, Mesulam M, Mann D, Grafman J, Mackenzie IR, Feldman H, Bird T, Petersen R, Knopman D, Boeve B, Geschwind DH, Miller B, Wszolek Z, Lippa C, Bigio EH, Dickson D, Graff-Radford N, Hutton M (2007) Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-< T (Arg493X) mutation: an international initiative. Lancet Neurol 6, 857-868.