Initial heritability analyses of endophenotypic measures for schizophrenia: The Consortium on the Genetics of Schizophrenia

Archives of General Psychiatry

Volumn 64, Issue 11, 2007, Pages 1242-1250

  Greenwood, Tiffany A ^a,b   Braff, David L ^a   Light, Gregory A ^a   Cadenhead, Istin S ^a   Calkins, Monica E ^c   Dobie, Dorcas J ^d,e   Freedman, Robert ^f   Green, Michael F ^g   Gur, Raquel E ^c   Gur, Ruben C ^c   Mintz, Jim ^h   Nuechterlein, Keith H ^g   Olincy, Ann ^f   Radant, Allen D ^d,e   Seidman, Larry J ^i,j,k   Siever, Larry J ^l,m,n   Silverman, Jeremy M ^l   Stone, William S ^i,j,k   Swerdlow, Neal R ^a   Tsuang, Debby W ^d,e   Tsuang, Ming T ^a,i,j,k   Turetsky, Bruce I ^c   Schork, Nicholas J ^a,b,o   more..

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^e VA PUGET SOUND HEALTH CARE SYSTEM   (United States)

^f UNIVERSITY OF COLORADO   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^j HARVARD MEDICAL SCHOOL   (United States)

^k HARVARD UNIVERSITY   (United States)

^l MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^m VETERANS AFFAIRS MEDICAL CENTER   (United States)

ⁿ Education and Clinical Center   (United States)

^o SCRIPPS HEALTH   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CALIFORNIA VERBAL LEARNING TEST; CONTINUOUS PERFORMANCE TEST; ENVIRONMENTAL FACTOR; EVENT RELATED POTENTIAL; FEMALE; HERITABILITY; HUMAN; INTELLIGENCE TEST; LETTER NUMBER SEQUENCING TEST; MAJOR CLINICAL STUDY; MALE; NEUROPHYSIOLOGY; PHENOTYPE; PREPULSE INHIBITION; SACCADIC EYE MOVEMENT; SCHIZOPHRENIA; UNIVERSITY OF PENNSYLVANIA COMPUTERIZED NEUROCOGNITIVE BATTERY;

ADOLESCENT; ADULT; AGED; ENVIRONMENT; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INHERITANCE PATTERNS; MALE; MIDDLE AGED; NEUROPSYCHOLOGICAL TESTS; PEDIGREE; PHENOTYPE; RISK FACTORS; SCHIZOPHRENIA; UNITED STATES;

EID: 35948991435     PISSN: 0003990X     EISSN: 15383636     Source Type: Journal    
DOI: 10.1001/archpsyc.64.11.1242     Document Type: Article

References (81)

1. Harrison PJ, Weinberger DR. Schizophrenia genes, gene expression, and neuropathology: on the matter of their convergence [published corrections appear in Mol Psychiatry.2005;10(4):420 and 2005;10(8):804].
2. Baron M. Genetics of schizophrenia and the new millennium: progress and pitfalls. Am J Hum Genet. 2001;68(2):299-312.
3. Gottesman II, Gould TD. The endophenotype concept in psychiatry: etymology and strategic intentions. Am J Psychiatry. 2003;160(4):636-645.
4. Braff DL, Freedman R. The importance of endophenotypes in studies of the genetics of schizophrenia. In: Davis KL, Charney D, Coyle JT, Nemeroff C, eds. Neuropsychopharmacology: The Fifth Generation of Progress. Baltimore, MD: Lippincott Williams & Wilkins; 2002:703-716.
5. Braff DL, Freedman R, Schork NJ, Gottesman II. Deconstructing schizophrenia: an overview of the use of endophenotypes in order to understand a complex disorder. Schizophr Bull. 2007;33(1):21-32.
6. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 4th rev ed. Washington, DC: American Psychiatric Association; 2000.
7. Calkins ME, Dobie DJ, Cadenhead KS, Olincy A, Freedman R, Green MF, Greenwood TA, Gur RE, Gur RC, Light GA, Mintz J, Nuechterlein KH, Radant AD, Schork NJ, Seidman LJ, Siever LJ, Silverman JM, Stone WS, Swerdlow NR, Tsuang DW, Tsuang MT, Turetsky BI, Braff DL. The Consortium on the Genetics of Endophenotypes in Schizophrenia: model recruitment, assessment, and endophenotyping methods for a multisite collaboration. Schizophr Bull. 2007;33(1):33-48.
8. Cadenhead KS, Swerdlow NR, Shafer KM, Diaz M, Braff DL. Modulation of the startle response and startle laterality in relatives of schizophrenic patients and in subjects with schizotypal personality disorder: evidence of inhibitory deficits. Am J Psychiatry. 2000;157(10):1660-1668.
9. Adler LE, Pachtman E, Franks RD, Pecevich M, Waldo MC, Freedman R. Neurophysiological evidence for a defect in neuronal mechanisms involved in sensory gating in schizophrenia. Biol Psychiatry. 1982;17(6):639-654.
10. Clementz BA, Geyer MA, Braff DL. Multiple site evaluation of P50 suppression among schizophrenia and normal comparison subjects. Schizophr Res. 1998;30(1):71-80.
11. Siegel C, Waldo M, Mizner G, Adler LE, Freedman R. Deficits in sensory gating in schizophrenic patients and their relatives: evidence obtained with auditory evoked responses. Arch Gen Psychiatry. 1984;41(6):607-612.
12. Clementz BA, Geyer MA, Braff DL. Poor P50 suppression among schizophrenia patients and their first-degree biological relatives. Am J Psychiatry. 1998;155(12):1691-1694.
13. McDowell JE, Clementz BA. The effect of fixation condition manipulations on antisaccade performance in schizophrenia: studies of diagnostic specificity. Exp Brain Res. 1997;115(2):333-344.
14. Fukushima J, Fukushima K, Chiba T, Tanaka S, Yamashita I, Kato M. Disturbances of voluntary control of saccadic eye movements in schizophrenic patients. Biol Psychiatry. 1988;23(7):670-677.
15. Calkins ME, Curtis CE, Iacono WG, Grove WM. Antisaccade performance is impaired in medically and psychiatrically healthy biological relatives of schizophrenia patients. Schizophr Res. 2004;71(1):167-178.
16. Levy DL, O'Driscoll G, Matthysse S, Cook SR, Holzman PS, Mendell NR. Anti-saccade performance in biological relatives of schizophrenia patients: a meta-analysis. Schizophr Res. 2004;71(1):113-125.
17. Braff DL. Information processing and attention dysfunctions in schizophrenia. Schizophr Bull. 1993;19(2):233-259.
18. Cornblatt BA, Keilp JG. Impaired attention, genetics, and the pathophysiology of schizophrenia. Schizophr Bull. 1994;20(1):31-46.
19. Nuechterlein KH. Vigilance in schizophrenia and related disorders. In: Steinhauer S, Zubin J, Gruzelier JH, eds. Handbook of Schizophrenia, Neuropsychology, Psychophysiology and Information Processing. Vol 5. Amsterdam, the Netherlands: Elsevier Science Publishers; 1991:397-433.
20. Nuechterlein KH, Asarnow RF, Subotnik KL, Fogelson DL, Ventura J, Torquato R, Dawson ME. Neurocognitive vulnerability factors for schizophrenia: convergence across genetic risk studies and longitudinal trait/state studies. In: Lenzenweger MF, Dworkin RH, eds. Origins and Development of Schizophrenia: Advances in Experimental Psychopathology. Washington, DC: American Psychological Association; 1998:299-327.
21. Rutschmann J, Cornblatt B, Erlenmeyer-Kimling L. Sustained attention in children at risk for schizophrenia: findings with two visual continuous performance tests in a new sample. J Abnorm Child Psychol. 1986;14(3):365-385.
22. Cirillo MA, Seidman LJ. Verbal declarative memory dysfunction in schizophrenia: from clinical assessment to genetics and brain mechanisms. Neuropsychol Rev. 2003;13(2):43-77.
23. Aleman A, Hijman R, de Haan EH, Kahn RS. Memory impairment in schizophrenia: a meta-analysis. Am J Psychiatry. 1999;156(9):1358-1366.
24. Heinrichs RW, Zakzanis KK. Neurocognitive deficit in schizophrenia: a quantitative review of the evidence. Neuropsychology. 1998;12(3):426-445.
25. Snitz BE, Macdonald AW III, Carter CS. Cognitive deficits in unaffected first-degree relatives of schizophrenia patients: a meta-analytic review of putative endophenotypes. Schizophr Bull. 2006;32(1):179-194.
26. Sitskoorn MM, Aleman A, Ebisch SJ, Appels MC, Kahn RS. Cognitive deficits in relatives of patients with schizophrenia: a meta-analysis. Schizophr Res. 2004;71(2-3):285-295.
27. Harvey P, Winters K, Weintraub S, Neale JM. Distractibility in children vulnerable to psychopathology. J Abnorm Psychol. 1981;90(4):298-304.
28. Park S, Holzman PS, Goldman-Rakic PS. Spatial working memory deficits in the relatives of schizophrenic patients. Arch Gen Psychiatry. 1995;52(10):821-828.
29. Perry W, Heaton RK, Potterat E, Roebuck T, Minassian A, Braff DL. Working memory in schizophrenia: transient "online" storage versus executive functioning. Schizophr Bull. 2001;27(1):157-176.
30. Gur RC, Ragland JD, Moberg PJ, Turner TH, Bilker WB, Kohler C, Siegel SJ, Gur RE. Computerized neurocognitive scanning, I: methodology and validation in healthy people. Neuropsychopharmacology. 2001;25(5):766-776.
31. Gur RC, Ragland JD, Moberg PJ, Bilker WB, Kohler C, Siegel SJ, Gur RE. Computerized neurocognitive scanning, II: the profile of schizophrenia. Neuropsychopharmacology. 2001;25(5):777-788.
32. Gur RE, Calkins ME, Gur RC, Horan WP, Nuechterlein KH, Seidman LJ, Stone WS. The Consortium on the Genetics of Schizophrenia: neurocognitive endophenotypes. Schizophr Bull. 2007;33(1):49-68.
33. Turetsky BI, Calkins ME, Light GA, Olincy A, Radant AD, Swerdlow NR. Neurophysiological endophenotypes of schizophrenia: the viability of selected candidate measures. Schizophr Bull. 2007;33(1):69-94.
34. Nurnberger JI Jr, Blehar MC, Kaufmann CA, York-Cooler C, Simpson SG, Harkavy-Friedman J, Severe JB, Malaspina D, Reich T. Diagnostic interview for genetic studies: rationale, unique features, and training: NIMH Genetics Initiative. Arch Gen Psychiatry. 1994;51(11):849-859; discussion, 863-864.
35. Faraone SV, Tsuang D, Tsuang MT. Genetics of Mental Disorders: A Guide for Students, Clinicians, and Researchers. New York, NY: Guilford Press; 1999.
36. Braff D, Stone C, Callaway E, Geyer M, Glick I, Bali L. Prestimulus effects on human startle reflex in normals and schizophrenics. Psychophysiology. 1978;15(4):339-343.
37. Braff DL, Geyer MA, Swerdlow NR. Human studies of prepulse inhibition of startle: normal subjects, patient groups, and pharmacological studies. Psychopharmacology (Berl). 2001;156(2-3):234-258.
38. Freedman R, Coon H, Myles-Worsley M, Orr-Urtreger A, Olincy A, Davis A, Polymeropoulos M, Holik J, Hopkins J, Hoff M, Rosenthal J, Waldo MC, Reimherr F, Wender P, Yaw J, Young DA, Breese CR, Adams C, Patterson D, Adler LE, Kruglyak L, Leonard S, Byerley W. Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus. Proc Natl Acad Sci U S A. 1997;94(2):587-592.
39. Radant AD, Dobie DJ, Calkins ME, Olincy A, Braff DL, Cadenhead KS, Freedman R, Green MF, Greenwood TA, Gur RE, Light GA, Meichle SP, Mintz J, Nuechterlein KH, Schork NJ, Seidman LJ, Siever LJ, Silverman JM, Stone WS, Swerdlow NR, Tsuang MT, Turetsky BI, Tsuang DW. Successful multi-site measurement of antisaccade performance deficits in schizophrenia. Schizophr Res. 2007;89(1-3):320-329.
40. Nuechterlein KH, Asarnow RF. Degraded Stimulus Continuous Performance Test (DS-CPT): Program for IBM-Compatible Microcomputers. Version 8.11. Los Angeles, CA: K. H. Nuechterlein and R. F. Asarnow; 1999.
41. Nuechterlein KH, Parasuraman R, Jiang Q. Visual sustained attention: image degradation produces rapid sensitivity decrement over time. Science. 1983;220 (4594):327-329.
42. Delis DC, Kramer JH, Kaplan E, Ober BA. California Verbal Learning Test, Second Edition, Adult Version. San Antonio, TX: Psychological Corp; 2000.
43. Gold JM, Carpenter C, Randolph C, Goldberg TE, Weinberger DR. Auditory working memory and Wisconsin Card Sorting Test performance in schizophrenia. Arch Gen Psychiatry. 1997;54(2):159-165.
44. Schork NJ. The design and use of variance component models in the analysis of human quantitative pedigree data. Biom J. 1993;35(4):387-405.
45. Schork NJ, Schork MA. The relative efficiency and power of small-pedigree studies of the heritability of a quantitative trait. Hum Hered. 1993;43(1):1-11.
46. Almasy L, Blangero J. Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet. 1998;62(5):1198-1211.
47. Beaty TH, Liang KY. Robust inference for variance components models in families ascertained through probands, I: conditioning on proband's phenotype. Genet Epidemiol. 1987;4(3):203-210.
48. Beaty TH, Liang KY, Seerey S, Cohen BH. Robust inference for variance components models in families ascertained through probands, II: analysis of spirometric measures. Genet Epidemiol. 1987;4(3):211-221.
49. Amos CI, Zhu DK, Boerwinkle E. Assessing genetic linkage and association with robust components of variance approaches. Ann Hum Genet. 1996;60(pt 2):143-160.
50. Allison DB, Neale MC, Zannolli R, Schork NJ, Amos CI, Blangero J. Testing the robustness of the likelihood-ratio test in a variance-component quantitative-trait loci-mapping procedure. Am J Hum Genet. 1999;65(2):531-544.
51. Hopper JL, Mathews JD. Extensions to multivariate normal models for pedigree analysis. Ann Hum Genet. 1982;46(pt 4):373-383.
52. Almasy L, Dyer TD, Blangero J. Bivariate quantitative trait linkage analysis: pleiotropy versus co-incident linkages. Genet Epidemiol. 1997;14(6):953-958.
53. Jastak S, Wilkinson GS. The Wide Range Achievement Test-Revised: Administration Manual. Wilmington, DE: Jastak Associates; 1984.
54. Rothman KJ. No adjustments are needed for multiple comparisons. Epidemiology. 1990;1(1):43-46.
55. Houy E, Raux G, Thibaut F, Belmont A, Demily C, Allio G, Haouzir S, Fouldrin G, Petit M, Frebourg T, Campion D. The promoter -194 C polymorphism of the nicotinic alpha 7 receptor gene has a protective effect against the P50 sensory gating deficit. Mol Psychiatry. 2004;9(3):320-322.
56. Anokhin AP, Vedeniapin AB, Heath AC, Korzyukov O, Boutros NN. Genetic and environmental influences on sensory gating of mid-latency auditory evoked responses: a twin study. Schizophr Res. 2007;89(1-3):312-319.
57. Davis M, Mansbach RS, Swerdlow NR, Campeau S, Braff DL, Geyer MA. Apomorphine disrupts the inhibition of acoustic startle induced by weak prepulses in rats. Psychopharmacology (Berl). 1990;102(1):1-4.
58. Braff DL, Light GA. The use of neurophysiological endophenotypes to understand the genetic basis of schizophrenia. Dialogues Clin Neurosci. 2005;7(2):125-135.
59. Swerdlow NR, Sprock J, Light GA, Cadenhead K, Calkins ME, Dobie DJ, Freedman R, Green MF, Greenwood TA, Gur RE, Mintz J, Olincy A, Nuechterlein KH, Radant AD, Schork NJ, Seidman LJ, Siever LJ, Silverman JM, Stone WS, Tsuang DW, Tsuang MT, Turetsky BI, Braff DL. Multi-site studies of acoustic startle and prepulse inhibition in humans: initial experience and methodological considerations based on studies by the Consortium on the Genetics of Schizophrenia. Schizophr Res. 2007;92(1-3):237-251.
60. Adler LE, Olincy A, Cawthra EM, McRae KA, Harris JG, Nagamoto HT, Waldo MC, Hall MH, Bowles A, Woodward L, Ross RG, Freedman R. Varied effects of atypical neuroleptics on P50 auditory gating in schizophrenia patients. Am J Psychiatry. 2004;161(10):1822-1828.
61. Hall MH, Schulze K, Rijsdijk F, Picchioni M, Ettinger U, Bramon E, Freedman R, Murray RM, Sham P. Heritability and reliability of P300, P50 and duration mismatch negativity. Behav Genet. 2006;36(6):845-857.
62. Young DA, Waldo M, Rutledge JH III, Freedman R. Heritability of inhibitory gating of the P50 auditory-evoked potential in monozygotic and dizygotic twins. Neuropsychobiology. 1996;33(3):113-117.
63. Smith DA, Boutros NN, Schwarzkopf SB. Reliability of P50 auditory event-related potential indices of sensory gating. Psychophysiology. 1994;31(5):495-502.
64. Anokhin AP, Heath AC, Myers E, Ralano A, Wood S. Genetic influences on prepulse inhibition of startle reflex in humans. Neurosci Lett. 2003;353(1):45-48.
65. Malone SM, Iacono WG. Error rate on the antisaccade task: heritability and developmental change in performance among preadolescent and late-adolescent female twin youth. Psychophysiology. 2002;39(5):664-673.
66. Grove WM, Lebow BS, Clementz BA, Cerri A, Medus C, Iacono WG. Familial prevalence and coaggregation of schizotypy indicators: a multitrait family study. J Abnorm Psychol. 1991;100(2):115-121.
67. Chen WJ, Liu SK, Chang CJ, Lien YJ, Chang YH, Hwu HG. Sustained attention deficit and schizotypal personality features in nonpsychotic relatives of schizophrenic patients. Am J Psychiatry. 1998;155(9):1214-1220.
68. Cornblatt BA, Malhotra AK. Impaired attention as an endophenotype for molecular genetic studies of schizophrenia. Am J Med Genet. 2001;105(1):11-15.
69. Swan GE, Reed T, Jack LM, Miller BL, Markee T, Wolf PA, DeCarli C, Carmelli D. Differential genetic influence for components of memory in aging adult twins. Arch Neurol. 1999;56(9):1127-1132.
70. Ando J, Ono Y, Wright MJ. Genetic structure of spatial and verbal working memory. Behav Genet. 2001;31(6):615-624.
71. Hansell NK, Wright MJ, Luciano M, Geffen GM, Geffen LB, Martin NG. Genetic covariation between event-related potential (ERP) and behavioral non-ERP measures of working-memory, processing speed, and IQ. Behav Genet. 2005;35(6):695-706.
72. Tuulio-Henriksson A, Arajarvi R, Partonen T, Haukka J, Varilo T, Schreck M, Cannon T, Lönnqvist J. Familial loading associates with impairment in visual span among healthy siblings of schizophrenia patients. Biol Psychiatry. 2003;54(6):623-628.
73. Tuulio-Henriksson A, Haukka J, Partonen T, Varilo T, Paunio T, Ekelund J, Cannon TD, Meyer JM, Lönnqvist J. Heritability and number of quantitative trait loci of neurocognitive functions in families with schizophrenia. Am J Med Genet. 2002;114(5):483-490.
74. Gur RE, Nimgaonkar VL, Almasy L, Calkins ME, Ragland JD, Pogue-Geile MF, Kanes S, Blangero J, Gur RC. Neurocognitive endophenotypes in a multiplex multigenerational family study of schizophrenia. Am J Psychiatry. 2007;164(5):813-819.
75. Ott J. Analysis of Human Genetic Linkage. Rev ed. Baltimore, MD: Johns Hopkins University Press; 1991.
76. Kumari V, Soni W, Sharma T. Normalization of information processing deficits in schizophrenia with clozapine. Am J Psychiatry. 1999;156(7):1046-1051.
77. Light GA, Geyer MA, Clementz BA, Cadenhead KS, Braff DL. Normal P50 suppression in schizophrenia patients treated with atypical antipsychotic medications. Am J Psychiatry. 2000;157(5):767-771.
78. Swerdlow NR, Light GA, Cadenhead KS, Sprock J, Hsieh MH, Braff DL. Startle gating deficits in a large cohort of patients with schizophrenia: relationship to medications, symptoms, neurocognition, and level of function. Arch Gen Psychiatry. 2006;63(12):1325-1335.
79. Owen MJ, O'Donovan MC, Gottesman II. Schizophrenia. In: McGuffin P, Owen MJ, Gottesman II, eds. Psychiatric Genetics and Genomics. Oxford, England: Oxford University Press; 2002:247-266.
80. Gottesman II, Shields J. Schizophrenia and Genetics: A Twin Study Vantage Point. New York, NY: Academic Press Inc; 1972.
81. Leonard S, Gault J, Hopkins J, Logel J, Vianzon R, Short M, Drebing C, Berger R, Venn D, Sirota P, Zerbe G, Olincy A, Ross RG, Adler LE, Freedman R. Association of promoter variants in the α7 nicotinic acetylcholine receptor subunit gene with an inhibitory deficit found in schizophrenia. Arch Gen Psychiatry. 2002;59(12):1085-1096.