Genetic studies of the protein kinase AKT1 in Parkinson's disease

Neuroscience Letters

Volumn 501, Issue 1, 2011, Pages 41-44

  Ran, Caroline ^a   Westerlund, Marie ^a   Anvret, Anna ^a   Willows, Thomas ^b   Sydow, Olof ^b   Galter, Dagmar ^a   Belin, Andrea Carmine ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Association study; Dopamine; Linkage disequilibrium; Neurodegeneration; Phosphorylation

Indexed keywords

PROTEIN KINASE AKT1; PROTEIN KINASE B; UNCLASSIFIED DRUG;

AGED; ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; FEMALE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PARKINSON DISEASE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SINGLE NUCLEOTIDE POLYMORPHISM;

AGED; CASE-CONTROL STUDIES; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; PARKINSON DISEASE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS C-AKT;

EID: 79960990827     PISSN: 03043940     EISSN: 18727972     Source Type: Journal    
DOI: 10.1016/j.neulet.2011.06.038     Document Type: Article

References (32)

1. Abecasis G.R., Cookson W.O. GOLD - graphical overview of linkage disequilibrium. Bioinformatics 2000, 16:182-183.
2. Barrett J.C., Fry B., Maller J., Daly M.J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21:263-265.
3. Chalecka-Franaszek E., Chuang D.M. Lithium activates the serine/threonine kinase Akt-1 and suppresses glutamate-induced inhibition of Akt-1 activity in neurons. Proc. Natl. Acad. Sci. U.S.A. 1999, 96:8745-8750.
4. Daniel S.E., Lees A.J. Parkinson's Disease Society Brain Bank, London: overview and research. J. Neural Transm. Suppl. 1993, 39:165-172.
5. Detera-Wadleigh S.D., Badner J.A., Berrettini W.H., Yoshikawa T., Goldin L.R., Turner G., Rollins D.Y., Moses T., Sanders A.R., Karkera J.D., Esterling L.E., Zeng J., Ferraro T.N., Guroff J.J., Kazuba D., Maxwell M.E., Nurnberger J.I., Gershon E.S. A high-density genome scan detects evidence for a bipolar-disorder susceptibility locus on 13q32 and other potential loci on 1q32 and 18p11.2. Proc. Natl. Acad. Sci. U.S.A. 1999, 96:5604-5609.
6. Dudbridge F. Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data. Hum. Hered. 2008, 66:87-98.
7. Edwards T.L., Scott W.K., Almonte C., Burt A., Powell E.H., Beecham G.W., Wang L., Zuchner S., Konidari I., Wang G., Singer C., Nahab F., Scott B., Stajich J.M., Pericak-Vance M., Haines J., Vance J.M., Martin E.R. Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. Ann. Hum. Genet. 2010, 74:97-109.
8. Emamian E.S., Hall D., Birnbaum M.J., Karayiorgou M., Gogos J.A. Convergent evidence for impaired AKT1-GSK3beta signaling in schizophrenia. Nat. Genet. 2004, 36:131-137.
9. Excoffier L., Laval G., Schneider S. Arlequin (version 3.0): an integrated software package for population genetics data analysis. Evol. Bioinform. Online 2005, 1:47-50.
10. Fung H.C., Scholz S., Matarin M., Simon-Sanchez J., Hernandez D., Britton A., Gibbs J.R., Langefeld C., Stiegert M.L., Schymick J., Okun M.S., Mandel R.J., Fernandez H.H., Foote K.D., Rodriguez R.L., Peckham E., De Vrieze F.W., Gwinn-Hardy K., Hardy J.A., Singleton A. Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol. 2006, 5:911-916.
11. Hamza T.H., Zabetian C.P., Tenesa A., Laederach A., Montimurro J., Yearout D., Kay D.M., Doheny K.F., Paschall J., Pugh E., Kusel V.I., Collura R., Roberts J., Griffith A., Samii A., Scott W.K., Nutt J., Factor S.A., Payami H. Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. Nat. Genet. 2010, 42:781-785.
12. Hardy J. Genetic analysis of pathways to Parkinson disease. Neuron 2010, 68:201-206.
13. Ikeda M., Iwata N., Suzuki T., Kitajima T., Yamanouchi Y., Kinoshiya Y., Sekine Y., Iyo M., Harano M., Komiyama T., Yamada M., Sora I., Ujike H., Inada T., Ozaki N. Positive association of AKT1 haplotype to Japanese methamphetamine use disorder. Int. J. Neuropsychopharmacol. 2006, 9:77-81.
14. Karege F., Perroud N., Schurhoff F., Meary A., Marillier G., Burkhardt S., Ballmann E., Fernandez R., Jamain S., Leboyer M., La H.R., Malafosse A. Association of AKT1 gene variants and protein expression in both schizophrenia and bipolar disorder. Genes Brain Behav. 2010, 9:503-511.
15. Lawlor M.A., Alessi D.R. PKB/Akt: a key mediator of cell proliferation, survival and insulin responses?. J. Cell Sci. 2001, 114:2903-2910.
16. Lee K.Y., Joo E.J., Jeong S.H., Kang U.G., Roh M.S., Kim S.H., Song J.Y., Hwang J.Y., Kim S.G., Lee N., Ahn Y.M., Kim Y.S. No association between AKT1 polymorphism and schizophrenia: a case-control study in a Korean population and a meta-analysis. Neurosci. Res. 2010, 66:238-245.
17. Malagelada C., Jin Z.H., Greene L.A. RTP801 is induced in Parkinson's disease and mediates neuron death by inhibiting Akt phosphorylation/activation. J. Neurosci. 2008, 28:14363-14371.
18. Manning B.D., Cantley L.C. AKT/PKB signaling: navigating downstream. Cell 2007, 129:1261-1274.
19. Mizuta I., Satake W., Nakabayashi Y., Ito C., Suzuki S., Momose Y., Nagai Y., Oka A., Inoko H., Fukae J., Saito Y., Sawabe M., Murayama S., Yamamoto M., Hattori N., Murata M., Toda T. Multiple candidate gene analysis identifies alpha-synuclein as a susceptibility gene for sporadic Parkinson's disease. Hum. Mol. Genet. 2006, 15:1151-1158.
20. Nalls M.A., Plagnol V., Hernandez D.G., Sharma M., Sheerin U.M., Saad M., Simon-Sanchez J., Schulte C., Lesage S., Sveinbjornsdottir S., Stefansson K., Martinez M., Hardy J., Heutink P., Brice A., Gasser T., Singleton A.B., Wood N.W. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet 2011, 377:641-649.
21. Nicodemus K.K., Law A.J., Radulescu E., Luna A., Kolachana B., Vakkalanka R., Rujescu D., Giegling I., Straub R.E., McGee K., Gold B., Dean M., Muglia P., Callicott J.H., Tan H.Y., Weinberger D.R. Biological validation of increased schizophrenia risk with NRG1, ERBB4, and AKT1 epistasis via functional neuroimaging in healthy controls. Arch. Gen. Psychiatry 2010, 67:991-1001.
22. Pankratz N., Wilk J.B., Latourelle J.C., DeStefano A.L., Halter C., Pugh E.W., Doheny K.F., Gusella J.F., Nichols W.C., Foroud T., Myers R.H. Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum. Genet. 2009, 124:593-605.
23. Ronaghi M., Uhlen M., Nyren P. A sequencing method based on real-time pyrophosphate. Science 1998, 281(363):365.
24. Saad M., Lesage S., Saint-Pierre A., Corvol J.C., Zelenika D., Lambert J.C., Vidailhet M., Mellick G.D., Lohmann E., Durif F., Pollak P., Damier P., Tison F., Silburn P.A., Tzourio C., Forlani S., Loriot M.A., Giroud M., Helmer C., Portet F., Amouyel P., Lathrop M., Elbaz A., Durr A., Martinez M., Brice A. Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population. Hum. Mol. Genet. 2011, 20:615-627.
25. Salinas M., Martin D., Alvarez A., Cuadrado A. Akt1/PKBalpha protects PC12 cells against the parkinsonism-inducing neurotoxin 1-methyl-4-phenylpyridinium and reduces the levels of oxygen-free radicals. Mol. Cell. Neurosci. 2001, 17:67-77.
26. Salmela E., Lappalainen T., Liu J., Sistonen P., Andersen P.M., Schreiber S., Savontaus M.L., Czene K., Lahermo P., Hall P., Kere J. Swedish population substructure revealed by genome-wide single nucleotide polymorphism data. PLoS One 2011, 6:e16747.
27. Segurado R., Detera-Wadleigh S.D., Levinson D.F., Lewis C.M., Gill M., Nurnberger J.I., Craddock N., Depaulo J.R., Baron M., Gershon E.S., Ekholm J., Cichon S., Turecki G., Claes S., Kelsoe J.R., Schofield P.R., Badenhop R.F., Morissette J., Coon H., Blackwood D., McInnes L.A., Foroud T., Edenberg H.J., Reich T., Rice J.P., Goate A., McInnis M.G., McMahon F.J., Badner J.A., Goldin L.R., Bennett P., Willour V.L., Zandi P.P., Liu J., Gilliam C., Juo S.H., Berrettini W.H., Yoshikawa T., Peltonen L., Lonnqvist J., Nothen M.M., Schumacher J., Windemuth C., Rietschel M., Propping P., Maier W., Alda M., Grof P., Rouleau G.A., Del-Favero J., Van B.C., Mendlewicz J., Adolfsson R., Spence M.A., Luebbert H., Adams L.J., Donald J.A., Mitchell P.B., Barden N., Shink E., Byerley W., Muir W., Visscher P.M., Macgregor S., Gurling H., Kalsi G., McQuillin A., Escamilla M.A., Reus V.I., Leon P., Freimer N.B., Ewald H., Kruse T.A., Mors O., Radhakrishna U., Blouin J.L., Antonarakis S.E., Akarsu N. Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: bipolar disorder. Am. J. Hum. Genet. 2003, 73:49-62.
28. Simon-Sanchez J., Schulte C., Bras J.M., Sharma M., Gibbs J.R., Berg D., Paisan-Ruiz C., Lichtner P., Scholz S.W., Hernandez D.G., Kruger R., Federoff M., Klein C., Goate A., Perlmutter J., Bonin M., Nalls M.A., Illig T., Gieger C., Houlden H., Steffens M., Okun M.S., Racette B.A., Cookson M.R., Foote K.D., Fernandez H.H., Traynor B.J., Schreiber S., Arepalli S., Zonozi R., Gwinn K., van der Brug M., Lopez G., Chanock S.J., Schatzkin A., Park Y., Hollenbeck A., Gao J., Huang X., Wood N.W., Lorenz D., Deuschl G., Chen H., Riess O., Hardy J.A., Singleton A.B., Gasser T. Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat. Genet. 2009, 41:1308-1312.
29. Spencer C.C., Plagnol V., Strange A., Gardner M., Paisan-Ruiz C., Band G., Barker R.A., Bellenguez C., Bhatia K., Blackburn H., Blackwell J.M., Bramon E., Brown M.A., Brown M.A., Burn D., Casas J.P., Chinnery P.F., Clarke C.E., Corvin A., Craddock N., Deloukas P., Edkins S., Evans J., Freeman C., Gray E., Hardy J., Hudson G., Hunt S., Jankowski J., Langford C., Lees A.J., Markus H.S., Mathew C.G., McCarthy M.I., Morrison K.E., Palmer C.N., Pearson J.P., Peltonen L., Pirinen M., Plomin R., Potter S., Rautanen A., Sawcer S.J., Su Z., Trembath R.C., Viswanathan A.C., Williams N.W., Morris H.R., Donnelly P., Wood N.W. Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. Hum. Mol. Genet. 2011, 20:345-353.
30. Timmons S., Coakley M.F., Moloney A.M., O' Neill C. Akt signal transduction dysfunction in Parkinson's disease. Neurosci. Lett. 2009, 467:30-35.
31. Toyota T., Yamada K., Detera-Wadleigh S.D., Yoshikawa T. Analysis of a cluster of polymorphisms in AKT1 gene in bipolar pedigrees: a family-based association study. Neurosci. Lett. 2003, 339:5-8.
32. Xiromerisiou G., Hadjigeorgiou G.M., Papadimitriou A., Katsarogiannis E., Gourbali V., Singleton A.B. Association between AKT1 gene and Parkinson's disease: a protective haplotype. Neurosci. Lett. 2008, 436:232-234.