Genome-Wide Burden of Copy Number Variations in Schizophrenia and Bipolar I Disorder: A case-control study Open Access

Abstract

We used genome-wide data to evaluate the burden of copy number variations (CNV) in 479 patients with bipolar disorder type I (BPI), 554 patients with schizophrenia (SZ) and 1014 population-based controls. All study participants were of Ashkenazi Jewish descent. We used PLINK and R Studio software to analyze the statistical associations between presence of CNV with SZ and BPI. The burden of rare (<1%) CNV deletions was statistically significant (P<0.05) at various sizes (minimum sizes of 1kb, 100kb, 500kb, and 1mb) in SZ patients when compared to controls. The burden of rare CNV in BPI cases was not statistically significant, even when filtered by early onset, defined as mania occurring at age 21 or younger as well as onset defined as mania occurring at age 18 or younger. Rates of large, rare CNV were different between SZ and BPI patients. Our findings support a genetic distinction between schizophrenia and bipolar I disorder .

Table of Contents

Table of Contents

Introduction...............1 Methods....................6 Results.....................8 Discussion................11 Sources...................15 Tables and Figures.....19

Figure 1 ..................19

Figure 2 ..................20

Figure 3 ..................21

Figure 4 ..................21

Table 1 ...................22

Table 2 ...................23

Table 3 ...................24

Table 4a .................24

Table 4b .................25

Table 5 ...................25

About this Master's Thesis

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School	Rollins School of Public Health
Department	Epidemiology
Degree	MPH
Submission	Master's Thesis
Language	English
Research Field	Biology, Genetics Health Sciences, Mental Health Health Sciences, Epidemiology
Keyword	bipolar CNV schizophrenia
Committee Chair / Thesis Advisor	Mulle, Jennifer, Emory University
Partnering Agencies	Emory University schools, faculty or affiliated programs

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