Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk

Neurobiology of Aging

Volumn 33, Issue 7, 2012, Pages 1487.e21-1487.e28

  Sanchez Juan, Pascual ^a   Bishop, Matthew T ^b   Aulchenko, Yurii S ^c   Brandel, Jean Philippe ^d,e,f,g   Rivadeneira, Fernando ^c   Struchalin, Maksim ^c   Lambert, Jean Charles ^h   Amouyel, Philippe ^h   Combarros, Onofre ^a   Sainz, Jesus ⁱ   Carracedo, Angel ^j   Uitterlinden, Andre G ^c   Hofman, Albert ^c   Zerr, Inga ^k   Kretzschmar, Hans A ^l   Laplanche, Jean Louis ^m   Knight, Richard S G ^b   Will, Robert G ^b   van Duijn, Cornelia M ^c  

^a HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e INSERM   (France)

^f CNRS   (France)

^g SORBONNE UNIVERSITÉ   (France)

^h UNIV LILLE   (France)

ⁱ University of Cantabria   (Spain)

^j UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^k UNIVERSITY OF GÖTTINGEN   (Germany)

^l UNIVERSITY OF MUNICH   (Germany)

^m HÔPITAL LARIBOISIÈRE   (France)

more..

Author keywords

GWAs; MTMR7; NPAS2; Phosphatidylinositol; PLCD3; PRNP; Variant CJD

Indexed keywords

INOSITOL 1,3 DIPHOSPHATE; INOSITOL DERIVATIVE; MYOTUBULARIN RELATED PROTEIN 7; PHOSPHATIDYLINOSITOL 3 PHOSPHATE; PHOSPHATIDYLINOSITOL 4,5 BISPHOSPHATE; PHOSPHOLIPASE C DELTA; PHOSPHOLIPASE C DELTA3; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CATALYSIS; CENTRAL NERVOUS SYSTEM; CHROMOSOME 1; CHROMOSOME 11; CHROMOSOME 12; CHROMOSOME 15; CHROMOSOME 16; CHROMOSOME 18; CHROMOSOME 19; CHROMOSOME 2; CHROMOSOME 20; CHROMOSOME 22; CHROMOSOME 4; CHROMOSOME 5; CHROMOSOME 6; CHROMOSOME 8; CONTROLLED STUDY; DEPHOSPHORYLATION; DISEASE PREDISPOSITION; FRANCE; GENE; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC MARKER; HUMAN; HYDROLYSIS; MAJOR CLINICAL STUDY; MTMR7 GENE; NPAS2 GENE; PLCD3 GENE; PRIORITY JOURNAL; PRNP GENE; REGULATOR GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SPORADIC CREUTZFELDT JAKOB DISEASE; UNITED KINGDOM; VARIANT CREUTZFELDT JAKOB DISEASE;

EID: 84861183787     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2011.10.011     Document Type: Article

References (17)

1. Aulchenko Y.S., Ripke S., Isaacs A., van Duijn C.M. GenABEL: an R library for genome-wide association analysis. Bioinformatics 2007, 23:1294-1296.
2. Bate C., Tayebi M., Diomede L., Salmona M., Williams A. Glimepiride reduces the expression of PrPc, prevents PrPSc formation and protects against prion mediated neurotoxicity in cell lines. PLoS One 2009, 4:e8221.
3. Bate C., Tayebi M., Williams A. The glycosylphosphatidylinositol anchor is a major determinant of prion binding and replication. Biochem. J 2010, 428:95-101.
4. Bishop M.T., Pennington C., Heath C.A., Will R.G., Knight R.S. PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism. BMC Med. Genet 2009, 10:146.
5. Brandel J.P., Heath C.A., Head M.W., Levavasseur E., Knight R., Laplanche J.L., Langeveld J.P., Ironside J.W., Hauw J.J., Mackenzie J., Alpérovitch A., Will R.G., Haïk S. Variant Creutzfeldt-Jakob disease in France and the United Kingdom: Evidence for the same agent strain. Ann. Neurol 2009, 65:249-256.
6. Bruce M.E., Will R.G., Ironside J.W., McConnell I., Drummond D., Suttie A., McCardle L., Chree A., Hope J., Birkett C., Cousens S., Fraser H., Bostock C.J. Transmissions to mice indicate that "new variant" CJD is caused by the BSE agent. Nature 1997, 389:498-501.
7. Caughey B., Raymond G.J. The scrapie-associated form of PrP is made from a cell surface precursor that is both protease- and phospholipase-sensitive. J. Biol. Chem 1991, 266:18217-18223.
8. Chen S., Mangé A., Dong L., Lehmann S., Schachner M. Prion protein as trans-interacting partner for neurons is involved in neurite outgrowth and neuronal survival. Mol. Cell. Neurosci 2003, 22:227-233.
9. Dixon A.L., Liang L., Moffatt M.F., Chen W., Heath S., Wong K.C., Taylor J., Burnett E., Gut I., Farrall M., Lathrop G.M., Abecasis G.R., Cookson W.O. A genome-wide association study of global gene expression. Nat. Genet 2007, 39:1202-1207.
10. Hewitt P.E., Llewelyn C.A., Mackenzie J., Will R.G. Creutzfeldt-Jakob disease and blood transfusion: results of the UK Transfusion Medicine Epidemiological Review study. Vox Sang 2006, 91:221-230.
11. Lambert J.C., Heath S., Even G., Campion D., Sleegers K., Hiltunen M., Combarros O., Zelenika D., Bullido M.J., Tavernier B., Letenneur L., Bettens K., Berr C., Pasquier F., Fiévet N., Barberger-Gateau P., Engelborghs S., De Deyn P., Mateo I., Franck A., Helisalmi S., Porcellini E., Hanon O., de Pancorbo M.M., Lendon C., Dufouil C., Jaillard C., Leveillard T., Alvarez V., Bosco P., Mancuso M., Panza F., Nacmias B., Bossù P., Piccardi P., Annoni G., Seripa D., Galimberti D., Hannequin D., Licastro F., Soininen H., Ritchie K., Blanché H., Dartigues J.F., Tzourio C., Gut I., Van Broeckhoven C., Alpérovitch A., Lathrop M., Amouyel P. Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat. Genet 2009, 41:1094-1099. European Alzheimer's Disease Initiative Investigators.
12. Mead S., Poulter M., Uphill J., Beck J., Whitfield J., Webb T.E., Campbell T., Adamson G., Deriziotis P., Tabrizi S.J., Hummerich H., Verzilli C., Alpers M.P., Whittaker J.C., Collinge J. Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study. Lancet Neurol 2009, 8:57-66.
13. Mochizuki Y., Majerus P.W. Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9. Proc. Natl. Acad. Sci. U. S. A 2003, 100:9768-9773.
14. Mruk D.D., Cheng C.Y. The myotubularin family of lipid phosphatases in disease and in spermatogenesis. Biochem. J 2010, 433:253-262.
15. Stahl N., Borchelt D.R., Hsiao K., Prusiner S.B. Scrapie prion protein contains a phosphatidylinositol glycolipid. Cell 1987, 51:229-240.
16. Stahl N., Borchelt D.R., Prusiner S.B. Differential release of cellular and scrapie prion proteins from cellular membranes by phosphatidylinositol-specific phospholipase C. Biochemistry 1990, 29:5405-5412.
17. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007, 447:661-678. Wellcome Trust, Case Control Consortium.