Copy variations in schizophrenia and bipolar disorder

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

The analysis of copy number variations (CNVs) is an emerging tool for identifying genetic factors underlying complex traits. In this chapter I will review studies that have been carried out showing that CNVs play a role in the development of two such complex traits; schizophrenia (SZ) and bipolar disorder (BD). There are two aspects to consider regarding the role of copy variations in these conditions. One is gene discovery in which DNA from patients is analyzed for the purpose of identifying rare, patient-specific CNVs that may be informative to a larger population of affected individuals. The model for this concept is based on the emergence of DISC1 as a SZ candidate gene, which was discovered in a single informative family with a rare chromosomal translocation. Another aspect revolves around the idea that polymorphic CNVs found in the general population, many of which appear to disrupt previously identified SZ and BD candidate genes, contribute to disease pathogenesis. Here, gene-disrupting CNVs are viewed in the same manner as functional SNPs and analyzed for involvement in disease susceptibility using genetic association. Although the analysis of CNVs in patients with psychiatric disorders is in its infancy, informative new findings have already been made, suggesting that this is a very promising line of research.

Original languageEnglish (US)
Pages (from-to)27-35
Number of pages9
JournalCytogenetic and Genome Research
Volume123
Issue number1-4
DOIs
StatePublished - Mar 2009

Fingerprint

Bipolar Disorder
Schizophrenia
Genetic Translocation
Gene Dosage
Disease Susceptibility
Genetic Association Studies
Population
Genes
Single Nucleotide Polymorphism
Psychiatry
DNA
Research

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Molecular Biology

Cite this

Copy variations in schizophrenia and bipolar disorder. / Lachman, Herbert M.

In: Cytogenetic and Genome Research, Vol. 123, No. 1-4, 03.2009, p. 27-35.

Research output: Contribution to journalArticle

@article{685f51b7f78a4c50bffd07de99736a1f,
title = "Copy variations in schizophrenia and bipolar disorder",
abstract = "The analysis of copy number variations (CNVs) is an emerging tool for identifying genetic factors underlying complex traits. In this chapter I will review studies that have been carried out showing that CNVs play a role in the development of two such complex traits; schizophrenia (SZ) and bipolar disorder (BD). There are two aspects to consider regarding the role of copy variations in these conditions. One is gene discovery in which DNA from patients is analyzed for the purpose of identifying rare, patient-specific CNVs that may be informative to a larger population of affected individuals. The model for this concept is based on the emergence of DISC1 as a SZ candidate gene, which was discovered in a single informative family with a rare chromosomal translocation. Another aspect revolves around the idea that polymorphic CNVs found in the general population, many of which appear to disrupt previously identified SZ and BD candidate genes, contribute to disease pathogenesis. Here, gene-disrupting CNVs are viewed in the same manner as functional SNPs and analyzed for involvement in disease susceptibility using genetic association. Although the analysis of CNVs in patients with psychiatric disorders is in its infancy, informative new findings have already been made, suggesting that this is a very promising line of research.",
author = "Lachman, {Herbert M.}",
year = "2009",
month = "3",
doi = "10.1159/000184689",
language = "English (US)",
volume = "123",
pages = "27--35",
journal = "Cytogenetic and Genome Research",
issn = "1424-8581",
publisher = "S. Karger AG",
number = "1-4",

}

TY - JOUR

T1 - Copy variations in schizophrenia and bipolar disorder

AU - Lachman, Herbert M.

PY - 2009/3

Y1 - 2009/3

N2 - The analysis of copy number variations (CNVs) is an emerging tool for identifying genetic factors underlying complex traits. In this chapter I will review studies that have been carried out showing that CNVs play a role in the development of two such complex traits; schizophrenia (SZ) and bipolar disorder (BD). There are two aspects to consider regarding the role of copy variations in these conditions. One is gene discovery in which DNA from patients is analyzed for the purpose of identifying rare, patient-specific CNVs that may be informative to a larger population of affected individuals. The model for this concept is based on the emergence of DISC1 as a SZ candidate gene, which was discovered in a single informative family with a rare chromosomal translocation. Another aspect revolves around the idea that polymorphic CNVs found in the general population, many of which appear to disrupt previously identified SZ and BD candidate genes, contribute to disease pathogenesis. Here, gene-disrupting CNVs are viewed in the same manner as functional SNPs and analyzed for involvement in disease susceptibility using genetic association. Although the analysis of CNVs in patients with psychiatric disorders is in its infancy, informative new findings have already been made, suggesting that this is a very promising line of research.

AB - The analysis of copy number variations (CNVs) is an emerging tool for identifying genetic factors underlying complex traits. In this chapter I will review studies that have been carried out showing that CNVs play a role in the development of two such complex traits; schizophrenia (SZ) and bipolar disorder (BD). There are two aspects to consider regarding the role of copy variations in these conditions. One is gene discovery in which DNA from patients is analyzed for the purpose of identifying rare, patient-specific CNVs that may be informative to a larger population of affected individuals. The model for this concept is based on the emergence of DISC1 as a SZ candidate gene, which was discovered in a single informative family with a rare chromosomal translocation. Another aspect revolves around the idea that polymorphic CNVs found in the general population, many of which appear to disrupt previously identified SZ and BD candidate genes, contribute to disease pathogenesis. Here, gene-disrupting CNVs are viewed in the same manner as functional SNPs and analyzed for involvement in disease susceptibility using genetic association. Although the analysis of CNVs in patients with psychiatric disorders is in its infancy, informative new findings have already been made, suggesting that this is a very promising line of research.

UR - http://www.scopus.com/inward/record.url?scp=62549129539&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=62549129539&partnerID=8YFLogxK

U2 - 10.1159/000184689

DO - 10.1159/000184689

M3 - Article

C2 - 19287136

AN - SCOPUS:62549129539

VL - 123

SP - 27

EP - 35

JO - Cytogenetic and Genome Research

JF - Cytogenetic and Genome Research

SN - 1424-8581

IS - 1-4

ER -