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Searching for endophenotypes: negative symptoms and schizophrenia

Maier, Emily (2014) Searching for endophenotypes: negative symptoms and schizophrenia. Undergraduate Thesis, University of Pittsburgh. (Unpublished)

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Schizophrenia is a disorder affecting millions of individuals, with a prevalence rate over one percent. Although the diagnosis of schizophrenia has a high heritability, identification of individual risk variants has been difficult, due to their small individual effects on the diagnosis. Identification of useful endophenotypes - that is, features more sensitive to genetic effects than the diagnosis itself - should aid in detecting genetic variants that contribute to the disorder. The current study examined negative symptoms as a possible endophenotype for schizophrenia. Specifically, the study examined the genetic correlations between the Scale for the Assessment of Negative Symptoms (SANS) and schizophrenia among multigenerational, multiplex schizophrenia families. To examine diagnostic specificity, major depressive disorder and substance abuse were also tested for genetic correlations with negative symptoms. The total sample (493) included 43 families, 90 schizophrenia patients, 359 of their relatives, and 44 controls. The majority of SANS scales were significantly heritable (average h2 = 0.48). Results suggested that even among relatives without any diagnoses, the prevalence of negative symptoms increased significantly with the degree of genetic relationship to schizophrenia (average RG = 0.76) but not depression or substance abuse. This suggests the potential utility of negative symptoms as a candidate endophenotype with some diagnostic specificity in studies seeking to identify genetic risk variants contributing to schizophrenia.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairPogue-Geile, Michaelmfpg@pitt.eduMFPG
Committee MemberKuo,
Committee MemberNimgaonkar, Vishwajit L.nimga@pitt.eduNIMGA
Committee MemberRoecklein, Kathryn Akroeck@pitt.eduKROECK
Committee MemberWalker,
Thesis AdvisorPogue-Geile, Michaelmfpg@pitt.eduMFPG
Date: 25 April 2014
Date Type: Publication
Defense Date: 17 March 2014
Approval Date: 25 April 2014
Submission Date: 18 April 2014
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 55
Institution: University of Pittsburgh
Schools and Programs: David C. Frederick Honors College
Dietrich School of Arts and Sciences > Psychology
Degree: BPhil - Bachelor of Philosophy
Thesis Type: Undergraduate Thesis
Refereed: Yes
Uncontrolled Keywords: Schizophrenia, endophenotype, negative symptom, heritability, SANS
Date Deposited: 25 Apr 2014 17:21
Last Modified: 15 Nov 2016 14:19


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