Heterogeneity of schizophrenia: Genetic and symptomatic factors

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 162, Issue 7, 2013, Pages 648-652

  Takahashi, Sakae ^a  

^a NIHON UNIVERSITY   (Japan)

Author keywords

Copy number variant; Heterogeneity; Sample stratification approach; Schizophrenia

Indexed keywords

NOTCH4 RECEPTOR;

AFRICAN AMERICAN; COHORT ANALYSIS; DEPRESSION; DISORIENTATION; ENDOPHENOTYPE; ENVIRONMENTAL EXPOSURE; EUROPEAN AMERICAN; EXCITEMENT; EXPLORATORY RESEARCH; EYE MOVEMENT; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; HOSTILITY; HUMAN; NEGATIVE SYNDROME; NEUROSIS; ONSET AGE; POSITIVE SYNDROME; PRINCIPAL COMPONENT ANALYSIS; PRIORITY JOURNAL; REVIEW; SCHIZOAFFECTIVE PSYCHOSIS; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM;

COPY NUMBER VARIANT; HETEROGENEITY; SAMPLE STRATIFICATION APPROACH; SCHIZOPHRENIA;

ENVIRONMENT; EYE MOVEMENTS; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; PROTO-ONCOGENE PROTEINS; RECEPTORS, NOTCH; SCHIZOPHRENIA;

EID: 84885763051     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.32161     Document Type: Review

References (34)

1. Bassett AS, Chow EW, AbdelMalik P, Gheorghiu M, Husted J, Weksberg R. 2003. The schizophrenia phenotype in 22q11 deletion syndrome. Am J Psychiatry 160:1580-1586.
2. Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA. 2005. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet Part A 138A:307-313.
3. Bassett AS, Scherer SW, Brzustowicz LM. 2010. Copy number variations in schizophrenia: Critical review and new perspectives on concepts of genetics and disease. Am J Psychiatry 167:899-914.
4. Cloninger CR, Kaufmann CA, Faraone SV, Malaspina D, Svrakic DM, Harkavy-Friedman J, Suarez BK, Matise TC, Shore D, Lee H, et al. 1998. Genome-wide search for schizophrenia susceptibility loci: The NIMH genetics initiative and millennium consortium. Am J Med Genet Part B 81B:275-281.
5. Doherty JL, O'Donovan MC, Owen MJ. 2012. Recent genomic advances in schizophrenia. Clin Genet 81:103-109.
6. Faraone SV, Blehar M, Pepple J, Moldin SO, Norton J, Nurnberger JI, Malaspina D, Kaufmann CA, Reich T, Cloninger CR, et al. 1996. Diagnostic accuracy and confusability analyses: An application to the Diagnostic Interview for Genetic Studies. Psychol Med 26:401-410.
7. Faraone, SV, Matise T, Svrakic D, Pepple J, Malaspina D, Suarez B, Hampe C, Zambuto CT, Schmitt K, Meyer J, et al. 1998. Genome scan of European-American schizophrenia pedigrees: Results of the NIMH genetics initiative and millennium consortium. Am J Med Genet Part B 81B:290-295.
8. Glatt SJ, Wang RS, Yeh YC, Tsuang MT, Faraone SV. 2005. Five NOTCH4 polymorphisms show weak evidence for association with schizophrenia: Evidence from meta-analyses. Schizophr Res 73:281-290.
9. Karayiorgou M, Morris MA, Morrow B, Shprintzen RJ, Goldberg R, Borrow J, Gos A, Nestadt G, Wolyniec PS, Lasseter VK, et al. 1995. Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. Proc Natl Acad Sci U S A 92:7612-7616.
10. Kaufmann CA, Suarez B, Malaspina D, Pepple J, Svrakic D, Markel PD, Meyer J, Zambuto CT, Schmitt K, Matise TC, et al. 1998. NIMH genetics initiative millenium schizophrenia consortium: Linkage analysis of African-American pedigrees. Am J Med Genet Part B 81B:282-289.
11. Kay SR, Opler LA, Fiszbein A. 1991. Positive and negative syndrome scale (PANSS) rating manual. Toronto: Multi-Health Systems, Inc.
12. Kojima T, Matsushima E, Nakajima K, Shiraishi H, Ando K, Ando H, Shimazono Y., 1990. Eye movements in acute, chronic, and remitted schizophrenics. Biol Psychiatry 27:975-989.
13. Kojima T, Matsushima E, Ando K, Ando H, Sakurada M, Ohta K, Moriya H, Shimazono Y., 1992. Exploratory eye movements and neuropsychological tests in schizophrenic patients. Schizophr Bull 18:85-94.
14. Kojima T, Matsushima E, Ohta K, Toru M, Han YH, Shen YC, Moussaoui D, David I, Sato K, Yamashita I, et al. 2001. Stability of exploratory eye movements as a marker of schizophrenia-A WHO multi-center study. Schizophr Res 52:203-213.
15. McClellan J, King MC. 2010. Genetic heterogeneity in human disease. Cell 141:210-217.
16. McGinnis RE, Fox H, Yates P, Cameron LA, Barnes MR, Gray IC, Spurr NK, Hurko O, St Clair D, 2001. Failure to confirm NOTCH4 association with schizophrenia in a large population-based sample from Scotland. Nat Genet 28:128-129.
17. Nurnberger JI Jr, Blehar MC, Kaufmann CA, York-Cooler C, Simpson SG, Harkavy-Friedman J, Severe JB, Malaspina D, Reich T. 1994. Diagnostic interview for genetic studies. Rationale, unique features, and training. NIMH Genetics Initiative. Arch Gen Psychiatry 51:849-859; discussion 863-844.
18. Overall JE, Gorham DR. 1962. The brief psychiatric rating scale. Psychol Rep 10:799-812.
19. Rodriguez-Murillo L, Gogos JA, Karayiorgou M., 2012. The genetic architecture of schizophrenia: New mutations and emerging paradigms. Annu Rev Med 63:63-80.
20. Sawa, A, Snyder SH. 2002. Schizophrenia: Diverse approaches to a complex disease. Science 296:692-695.
21. Sebat J, Levy DL, McCarthy SE. 2009. Rare structural variants in schizophrenia: One disorder, multiple mutations; one mutation, multiple disorders. Trends Genet 25:528-535.
22. Sklar P, Schwab SG, Williams NM, Daly M, Schaffner S, Maier W, Albus M, Trixler M, Eichhammer P, Lerer B, et al. 2001. Association analysis of NOTCH4 loci in schizophrenia using family and population-based controls. Nat Genet 28:126-128.
23. Stefansson H, Ophoff RA, Steinberg S, Andreassen OA, Cichon S, Rujescu D, Werge T, Pietiläinen OP, Mors O, Mortensen PB, et al. 2009. Common variants conferring risk of schizophrenia. Nature 460:744-747.
24. Sullivan PF, Kendler KS, Neale MC. 2003. Schizophrenia as a complex trait: Evidence from a meta-analysis of twin studies. Arch Gen Psychiatry 60:1187-1192.
25. Suzuki M, Takahashi S, Matsushima E, Tsunoda M, Kurachi M, Okada T, Hayashi T, Ishii Y, Morita K, Maeda H, et al. 2009. Exploratory eye movement dysfunction as a discriminator for schizophrenia: A large sample study using a newly developed digital computerized system. Eur Arch Psychiatry Clin Neurosci 259:186-194.
26. Suzuki M, Takahashi S, Matsushima E, Tsunoda M, Kurachi M, Okada T, Hayashi T, Ishii Y, Morita K, Maeda H, et al. 2012. Relationships between exploratory eye movement dysfunction and clinical symptoms in schizophrenia. Psychiatry Clin Neurosci 66:187-194.
27. Takahashi S, Cui YH, Kojima T, Han YH, Yu SY, Tanabe E, Yara K, Matsuura M, Matsushima E, Nakayama J, et al. 2003a. Family-based association study of the NOTCH4 gene in schizophrenia using Japanese and Chinese samples. Biol Psychiatry 54:129-135.
28. Takahashi S, Ohtsuki T, Yu SY, Tanabe E, Yara K, Kamioka M, Matsushima E, Matsuura M, Ishikawa K, Minowa Y, et al. 2003b. Significant linkage to chromosome 22q for exploratory eye movement dysfunction in schizophrenia. Am J Med Genet Part B 123B:27-32.
29. Takahashi S, Faraone SV, Lasky-Su J, Tsuang MT. 2005. Genome-wide scan of homogeneous subtypes of NIMH genetics initiative schizophrenia families. Psychiatry Res 133:111-122.
30. Takahashi S, Tanabe E, Yara K, Matsuura M, Matsushima E, Kojima T. 2008. Impairment of exploratory eye movement in schizophrenia patients and their siblings. Psychiatry Clin Neurosci 62:487-493.
31. Tsuang MT. 2000. Schizophrenia: Genes and environment. Biol Psychiatry 47:210-220.
32. Tsuang MT, Faraone SV. 1995. The case for heterogeneity in the etiology of schizophrenia. Schizophr Res 17:161-175.
33. Tsuang MT, Lyons MJ, Faraone SV. 1990. Heterogeneity of schizophrenia. Conceptual models and analytic strategies. Br J Psychiatry 156:17-26.
34. Wei J, Hemmings GP. 2000. The NOTCH4 locus is associated with susceptibility to schizophrenia. Nat Genet 25:376-377.