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Human Genome Epidemiology, 2nd EditionBuilding the evidence for using genetic information to improve health and prevent disease$
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Muin Khoury, Sara Bedrosian, Marta Gwinn, Julian Higgins, John Ioannidis, and Julian Little

Print publication date: 2009

Print ISBN-13: 9780195398441

Published to Oxford Scholarship Online: May 2010

DOI: 10.1093/acprof:oso/9780195398441.001.0001

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(p.390) 20 Schizophrenia
Human Genome Epidemiology, 2nd Edition

Lars Bertram

Oxford University Press

Efforts to identify the genes that modulate the risk for schizophrenia (SZ) have met with only limited success. This is at least in part due to problems that aggravate epidemiologic research in many psychiatric diseases, for example, a considerable degree of phenotypic variability and diagnostic uncertainty, the lack of extended pedigrees with Mendelian inheritance, and the absence of definitive disease-specific neuropathological features or biomarkers. The identification of susceptibility genes is further complicated by gene—gene interactions that are difficult to predict and model, and a likely substantial but difficult to detect, environmental component. Notwithstanding these challenges, several chromosomal regions thought to harbor SZ genes have been identified via whole genome linkage analyses, a few overlapping across different samples. This chapter focuses on the “SzGene” database developed by the Schizophrenia Research Forum, which systematically collects, summarizes, and meta-analyzes all genetic association studies published in the field of SZ, including genome-wide association studies (GWAS).

Keywords:   genetic variants, genetic variations, human disease, genome-wide studies, schizophrenia, SZGene database

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