Association analysis of the DISC1 gene with schizophrenia in the Japanese population and DISC1 immunoreactivity in the postmortem brain

Neuroscience Research

Volumn 77, Issue 4, 2013, Pages 222-227

  Ratta apha, Woraphat ^a   Hishimoto, Akitoyo ^a   Mouri, Kentaro ^a   Shiroiwa, Kyoichi ^a   Sasada, Toru ^a   Yoshida, Masakuni ^a   Supriyanto, Irwan ^a   Ueno, Yasuhiro ^a   Asano, Migiwa ^b   Shirakawa, Osamu ^c   Togashi, Hideru ^a   Takai, Yoshimi ^a   Sora, Ichiro ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b EHIME UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c KINKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

DISC1; Immunoreactivity; Postmortem brain; Schizophrenia; Ser704Cys SNP

Indexed keywords

DISRUPTED IN SCHIZOPHRENIA 1 PROTEIN;

ADULT; ARTICLE; AUTOPSY; CONTROLLED STUDY; FEMALE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; HUMAN TISSUE; IMMUNOREACTIVITY; JAPANESE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; POPULATION RESEARCH; PREFRONTAL CORTEX; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM;

DISC1; DISRUPTED-IN-SCHIZOPHRENIA 1; DLPFC; DORSOLATERAL PREFRONTAL CORTEX; HARDY-WEINBERG EQUILIBRIUM; HWE; IMMUNOREACTIVITY; LD; LINKAGE DISEQUILIBRIUM; POSTMORTEM BRAIN; SCHIZOPHRENIA; SER704CYS SNP; SINGLE NUCLEOTIDE POLYMORPHISM; SNP;

ASIAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; IMMUNOBLOTTING; MALE; MIDDLE AGED; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; PREFRONTAL CORTEX; SCHIZOPHRENIA;

EID: 84888366050     PISSN: 01680102     EISSN: 18728111     Source Type: Journal    
DOI: 10.1016/j.neures.2013.08.010     Document Type: Article

References (29)

1. Austin C.P., Ky B., Ma L., Morris J.A., Shughrue P.J. Expression of Disrupted-in-Schizophrenia-1, a schizophrenia-associated gene, is prominent in the mouse hippocampus throughout brain development. Neuroscience 2004, 124:3-10.
2. Blackwood D.H., Fordyce A., Walker M.T., St Clair D.M., Porteous D.J., Muir W.J. Schizophrenia and affective disorders-cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family. Am. J. Hum. Genet. 2001, 69:428-433.
3. Brandon N.J., Sawa A. Linking neurodevelopmental and synaptic theories of mental illness through DISC1. Nat. Rev. Neurosci. 2011, 12:707-722.
4. Callicott J.H., Straub R.E., Pezawas L., Egan M.F., Mattay V.S., Hariri A.R., Verchinski B.A., Meyer-Lindenberg A., Balkissoon R., Kolachana B., Goldberg T.E., Weinberger D.R. Variation in DISC1 affects hippocampal structure and function and increases risk for schizophrenia. Proc. Natl. Acad. Sci. U. S. A. 2005, 102:8627-8632.
5. Chubb J.E., Bradshaw N.J., Soares D.C., Porteous D.J., Millar J.K. The DISC locus in psychiatric illness. Mol. Psychiatry 2008, 13:36-64.
6. Dupont W.D., Plummer W.D. Power and sample size calculations for studies involving linear regression. Control. Clin. Trials 1998, 19:589-601.
7. Hashimoto R., Numakawa T., Ohnishi T., Kumamaru E., Yagasaki Y., Ishimoto T., Mori T., Nemoto K., Adachi N., Izumi A., Chiba S., Noguchi H., Suzuki T., Iwata N., Ozaki N., Taguchi T., Kamiya A., Kosuga A., Tatsumi M., Kamijima K., Weinberger D.R., Sawa A., Kunugi H. Impact of the DISC1 Ser704Cys polymorphism on risk for major depression, brain morphology and ERK signaling. Hum. Mol. Genet. 2006, 15:3024-3033.
8. Hennah W., Varilo T., Kestila M., Paunio T., Arajarvi R., Haukka J., Parker A., Martin R., Levitzky S., Partonen T., Meyer J., Lonnqvist J., Peltonen L., Ekelund J. Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effects. Hum. Mol. Genet. 2003, 12:3151-3159.
9. Hotta Y., Ohnuma T., Hanzawa R., Shibata N., Maeshima H., Baba H., Hatano T., Takebayashi Y., Kitazawa M., Higa M., Suzuki T., Arai H. Association study between Disrupted-in-Schizophrenia-1 (DISC1) and Japanese patients with treatment-resistant schizophrenia (TRS). Prog. Neuropsychopharmacol. Biol. Psychiatry 2011, 35:636-639.
10. Kamiya A., Kubo K., Tomoda T., Takaki M., Youn R., Ozeki Y., Sawamura N., Park U., Kudo C., Okawa M., Ross C.A., Hatten M.E., Nakajima K., Sawa A. A schizophrenia-associated mutation of DISC1 perturbs cerebral cortex development. Nat. Cell Biol. 2005, 7:1167-1178.
11. Kinoshita M., Numata S., Tajima A., Ohi K., Hashimoto R., Shimodera S., Imoto I., Itakura M., Takeda M., Ohmori T. Meta-analysis of association studies between DISC1 missense variants and schizophrenia in the Japanese population. Schizophr. Res. 2012, 141:271-273.
12. Lin X.H., Kitamura N., Hashimoto T., Shirakawa O., Maeda K. Opposite changes in phosphoinositide-specific phospholipase C immunoreactivity in the left prefrontal and superior temporal cortex of patients with chronic schizophrenia. Biol. Psychiatry 1999, 46:1665-1671.
13. Lipska B.K., Peters T., Hyde T.M., Halim N., Horowitz C., Mitkus S., Weickert C.S., Matsumoto M., Sawa A., Straub R.E., Vakkalanka R., Herman M.M., Weinberger D.R., Kleinman J.E. Expression of DISC1 binding partners is reduced in schizophrenia and associated with DISC1 SNPs. Hum. Mol. Genet. 2006, 15:1245-1258.
14. Mathieson I., Munafo M.R., Flint J. Meta-analysis indicates that common variants at the DISC1 locus are not associated with schizophrenia. Mol. Psychiatry 2012, 17:634-641.
15. Millar J.K., Pickard B.S., Mackie S., James R., Christie S., Buchanan S.R., Malloy M.P., Chubb J.E., Huston E., Baillie G.S., Thomson P.A., Hill E.V., Brandon N.J., Rain J.C., Camargo L.M., Whiting P.J., Houslay M.D., Blackwood D.H., Muir W.J., Porteous D.J. DISC1 and PDE4B are interacting genetic factors in schizophrenia that regulate cAMP signaling. Science 2005, 310:1187-1191.
16. Millar J.K., Wilson-Annan J.C., Anderson S., Christie S., Taylor M.S., Semple C.A., Devon R.S., St Clair D.M., Muir W.J., Blackwood D.H., Porteous D.J. Disruption of two novel genes by a translocation co-segregating with schizophrenia. Hum. Mol. Genet. 2000, 9:1415-1423.
17. Nakata K., Lipska B.K., Hyde T.M., Ye T., Newburn E.N., Morita Y., Vakkalanka R., Barenboim M., Sei Y., Weinberger D.R., Kleinman J.E. DISC1 splice variants are upregulated in schizophrenia and associated with risk polymorphisms. Proc. Natl. Acad. Sci. U. S. A. 2009, 106:15873-15878.
18. Owen M.J., Donovan O., Gottesman M.C. Schizophrenia. Psychiatric Genetics and Genomics 2002, 247-266. Oxford University Press, Oxford, England. M.J. Owen, I.I. Gottesman (Eds.).
19. Porteous D.J., Millar J.K., Brandon N.J., Sawa A. DISC1 at 10: connecting psychiatric genetics and neuroscience. Trends Mol. Med. 2011, 17:699-706.
20. Qu M., Tang F., Yue W., Ruan Y., Lu T., Liu Z., Zhang H., Han Y., Zhang D., Wang F. Positive association of the Disrupted-in-Schizophrenia-1 gene (DISC1) with schizophrenia in the Chinese Han population. Am. J. Med. Genet. B: Neuropsychiatr. Genet. 2007, 144B:266-270.
21. Rastogi A., Zai C., Likhodi O., Kennedy J.L., Wong A.H. Genetic association and post-mortem brain mRNA analysis of DISC1 and related genes in schizophrenia. Schizophr. Res. 2009, 114:39-49.
22. Sawa A., Snyder S.H. Genetics. Two genes link two distinct psychoses. Science 2005, 310:1128-1129.
23. Sawamura N., Sawamura-Yamamoto T., Ozeki Y., Ross C.A., Sawa A. A form of DISC1 enriched in nucleus: altered subcellular distribution in orbitofrontal cortex in psychosis and substance/alcohol abuse. Proc. Natl. Acad. Sci. U. S. A. 2005, 102:1187-1192.
24. Schumacher J., Laje G., Abou Jamra R., Becker T., Muhleisen T.W., Vasilescu C., Mattheisen M., Herms S., Hoffmann P., Hillmer A.M., Georgi A., Herold C., Schulze T.G., Propping P., Rietschel M., McMahon F.J., Nothen M.M., Cichon S. The DISC locus and schizophrenia: evidence from an association study in a central European sample and from a meta-analysis across different European populations. Hum. Mol. Genet. 2009, 18:2719-2727.
25. Schurov I.L., Handford E.J., Brandon N.J., Whiting P.J. Expression of disrupted in schizophrenia 1 (DISC1) protein in the adult and developing mouse brain indicates its role in neurodevelopment. Mol. Psychiatry 2004, 9:1100-1110.
26. Song W., Li W., Feng J., Heston L.L., Scaringe W.A., Sommer S.S. Identification of high risk DISC1 structural variants with a 2% attributable risk for schizophrenia. Biochem. Biophys. Res. Commun. 2008, 367:700-706.
27. St Clair D., Blackwood D., Muir W., Carothers A., Walker M., Spowart G., Gosden C., Evans H.J. Association within a family of a balanced autosomal translocation with major mental illness. Lancet 1990, 336:13-16.
28. Wang Q., Brandon N.J. Regulation of the cytoskeleton by Disrupted-in-schizophrenia 1 (DISC1). Mol. Cell. Neurosci. 2011, 48:359-364.
29. Zhang X., Tochigi M., Ohashi J., Maeda K., Kato T., Okazaki Y., Kato N., Tokunaga K., Sawa A., Sasaki T. Association study of the DISC1/TRAX locus with schizophrenia in a Japanese population. Schizophr. Res. 2005, 79:175-180.