Progranulin gene variability and plasma levels in bipolar disorder and schizophrenia

PLoS ONE

Volumn 7, Issue 4, 2012, Pages

  Galimberti, Daniela ^a   Dell'Osso, Bernardo ^a   Fenoglio, Chiara ^a   Villa, Chiara ^a   Cortini, Francesca ^a   Serpente, Maria ^a   Kittel Schneider, Sarah ^b   Weigl, Johannes ^b   Neuner, Maria ^b   Volkert, Juliane ^b   Leonhard, C ^b   Olmes, David G ^b   Kopf, Juliane ^b   Cantoni, Claudia ^a   Ridolfi, Elisa ^a   Palazzo, Carlotta ^a   Ghezzi, Laura ^a   Bresolin, Nereo ^a   Altamura, A C ^a   Scarpini, Elio ^a   Reif, Andreas ^b   more..

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PROGRANULIN; GRN PROTEIN, HUMAN; SIGNAL PEPTIDE;

ADULT; AGE; AGED; ARTICLE; BIPOLAR DISORDER; CONTROLLED STUDY; CORRELATION ANALYSIS; ETHNIC GROUP; FEMALE; FRONTOTEMPORAL DEMENTIA; GENDER; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GERMAN; GRN GENE; HUMAN; ITALIAN; MAJOR CLINICAL STUDY; MALE; PROTEIN BLOOD LEVEL; SCHIZOPHRENIA; WILD TYPE; ADOLESCENT; ALLELE; BLOOD; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; METHODOLOGY; MIDDLE AGED;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALLELES; BIPOLAR DISORDER; FEMALE; FRONTOTEMPORAL LOBAR DEGENERATION; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; SCHIZOPHRENIA; YOUNG ADULT;

EID: 84859600609     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0032164     Document Type: Article

References (36)

1. Pietroboni AM, Fumagalli GG, Ghezzi L, Fenoglio C, Cortini F, et al. (2011) Phenotypic heterogeneity of the GRN Asp22fs mutation in a large Italian kindred. J Alzheimers Dis 24 (2): 253-259.
2. Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, et al. (1998) Frontotemporal lobar degeneration. A consensus on clinical diagnostic criteria. Neurology 51: 1546-1554.
3. McKhann GM, Albert MS, Grossman M, Miller B, Dickson D, et al. (2001) Clinical and pathological diagnosis of frontotemporal dementia. Arch Neurol 58: 1803-1809.
4. Graff-Radford NR, Woodruff BK, (2007) Frontotemporal dementia. Seminaries in Neurology 27: 48-57.
5. Velakoulis D, Walterfang M, Mocellin R, Pantelis C, McLean C, (2009) Frontotemporal dementia presenting as schizophrenia-like psychosis in young people: clinicopathological series and review of cases. Br J Psychiatry 194: 298-305.
6. Rainero I, Rubino E, Negro E, Gallone S, Galimberti D, et al. (2011) Heterosexual Pedophilia in a Frontotemporal Dementia Patient with a Mutation in the Progranulin Gene. Biol Psychiatry 70 (9): e43-e44.
7. Cerami C, Marcone A, Galimberti D, Villa C, Scarpini E, et al. (2011) From genotype to phenotype: two cases of genetic frontotemporal lobar degeneration with premorbid bipolar disorder. J Alzheimers Dis 27: 791-797.
8. Schoder D, Hannequin D, Martinaud O, Opolczynski G, Guyant-Maréchal L, et al. (2010) Morbid risk for schizophrenia in first-degree relatives of people with frontotemporal dementia. Br J Psichiatry 197: 28-35.
9. Ghidoni R, Benussi L, Glionna M, Franzoni M, Binetti G, (2008) Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration. Neurology 71 (16): 1235-1239.
10. Carecchio M, Fenoglio C, De Riz M, Guidi I, Comi C, et al. (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 (1-2): 291-293.
11. Finch N, Baker M, Crook R, Swanson K, Kuntz K, et al. (2009) Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members. Brain 132: 583-591.
12. Rademakers R, Eriksen JL, Baker M, Robinson T, Ahmed Z, et al. (2008) Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP-43-positive frontotemporal dementia. Human Mol Genet 17 (23): 3631-3642.
13. Rollinson S, Rohrer JD, van der Zee J, Sleegers K, Mead S, et al. (2011) No association of PGRN 3′UTR rs5848 in frontotemporal lobar degeneration. Neurobiol Aging 32 (4): 754-755.
14. Galimberti D, Fenoglio C, Cortini F, Serpente M, Venturelli E, et al. (2010) GRN variability contributes to sporadic Frontotemporal Lobar Degeneration. J Alzheimers Dis 19 (1): 171-177.
15. Fenoglio C, Galimberti D, Cortini F, Kauwe JS, Cruchaga C, et al. (2009) rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease. J Alzheimers Dis 18 (3): 603-612.
16. Ferreira MA, O'Donovan MC, Meng YA, Jones IR, Ruderfer DM, et al. (2008) Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat Genet 40 (9): 1056-1058.
17. Howrigan DP, Laird NM, Smoller JW, Devlin B, McQueen MB, (2011) Using linkage information to weight a genome-wide association of bipolar disorder. Am J Med Genet B Neuropsychiatr Genet 156B (4): 462-471.
18. Escamilla M, Hare E, Dassori AM, Peralta JM, Ontiveros A, et al. (2009) A schizophrenia gene locus on chromosome 17q21 in a new set of families of Mexican and central american ancestry: evidence from the NIMH Genetics of schizophrenia in latino populations study. Am J Psychiatry 166 (4): 442-449.
19. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, et al. (2002) The structure of haplotype blocks in the human genome. Science 296 (5576): 2225-2229.
20. De Riz M, Galimberti D, Fenoglio C, Piccio LM, Scalabrini D, et al. (2010) Cerebrospinal fluid progranulin levels in patients with different multiple sclerosis subtypes. Neurosci Lett 2010 469 (2): 234-236.
21. Zhu J, Nathan C, Jin W, Sim D, Ashcroft GS, et al. (2002) Conversion of proepithelin to epithelins: roles of SLPI and elastase in host defense and wound repair. Cell 111: 867-878.
22. Ahmed Z, Mackenzie IR, Hutton ML, Dickson DW, (2007) Progranulin in frontotemporal lobar degeneration and neuroinflammation. J Neuroinflammation 4: 7.
23. Suvisaari J, Loo BM, Saarni SE, Haukka J, Perälä J, et al. (2011) Inflammation in psychotic disorders: A population-based study. Psychiatry Res 189 (2): 305-311.
24. Kunz M, Ceresér KM, Goi PD, Fries GR, Teixeira AL, et al. (2011) Serum levels of IL-6, IL-10 and TNF-α in patients with bipolar disorder and schizophrenia: differences in pro- and anti-inflammatory balance. Rev Bras Psiquiatr 33 (3): 268-274.
25. Williams HJ, Craddock N, Russo G, Hamshere ML, Moskvina V, et al. (2011) Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries. Hum Mol Genet 20 (2): 387-191.
26. Ewald H, Wikman FP, Teruel BM, Buttenschön HN, Torralba M, et al. (2005) Agenome-wide search for risk genes using homozygosity mapping and microarrays with1,494 single-nucleotide polymorphisms in 22 eastern Cuban families with bipolar disorder. Am J Med Genet B Neuropsychiatr Genet 133: 25-30.
27. Boeve BF, Hutton M, (2008) Refining frontotemporal dementia with parkinsonism linked to chromosome 17. Arch Neurol 65: 460-464.
28. Wilhelmsen KC, Lynch T, Pavlou E, Higgins M, Nygaard TG, (1994) Localization of dishinibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am J Hum Genet 55: 1159-1165.
29. Stone JL, Merriman B, Cantor RM, Yonan AL, Gilliam TC, et al. (2004) Evidence for sex-specific risk alleles in autism spectrum disorder. Am J Hum Genet 75: 1117-1123.
30. Cantor RM, Kono N, Duvall JA, Alvarez-Retuerto A, Stone JL, et al. (2005) Replication of autism linkage: fine-mapping peak at 17q21. Am J Hum Genet 76: 1050-1056.
31. Psychiatric GWAS Consortium Bipolar Disorder Working Group (2011) Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Nat Genet 43 (10): 977-983.
32. The Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium (2011) Genome-wide association study identifies five new schizophrenia loci. Nat Genet 43 (10): 969-976.
33. Reif A, Herterich S, Strobel A, Ehlis AC, Saur D, et al. (2006) A neuronal nitric oxide synthase (NOS-I) haplotype associated with schizophrenia modifies prefrontal cortex function. Mol Psychiatry 11 (3): 286-300.
34. Weber H, Kittel-Schneider S, Gessner A, Domschke K, Neuner M, et al. (2011) Cross-Disorder Analysis of Bipolar Risk Genes: Further Evidence of DGKH as a Risk Gene for Bipolar Disorder, but also Unipolar Depression and Adult ADHD. Neuropsychopharmacology 36 (10): 2076-2085.
35. First MB, Spitzer RL, Gibbon M, Williams JBW, (2002) Structured clinical interview for DSM-IV-TR Axis I disorders, research version patient edition (SCID-I/P) New York. Biometric research, New York State Psychiatric Insitute.
36. Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, et al. (2006) Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet 15: 2988-3001.