Document Detail

Experimental approaches for identifying schizophrenia risk genes.
MedLine Citation:
PMID:  21312414     Owner:  NLM     Status:  In-Process    
Schizophrenia is a severe, debilitating and common psychiatric disorder, which directly affects approximately 1% of the population worldwide. Although previous studies have unequivocally shown that schizophrenia has a strong genetic component, our understanding of its pathophysiology remains limited. The precise genetic architecture of schizophrenia remains elusive and is likely to be complex. It is believed that multiple genetic variants, with each contributing a modest effect on disease risk, interact with environmental factors resulting in the phenotype. In this chapter, we summarise the main molecular genetic approaches that have been utilised in identifying susceptibility genes for schizophrenia and discuss the advantages and disadvantages of each approach. First, we detail the findings of linkage mapping in pedigrees (affected families), which analyse the co-segregation of polymorphic genetic markers with disease phenotype. Second, the contribution of targeted and genome-wide association studies, which compare differential allelic frequencies in schizophrenia cases and matched controls, is presented. Third, we discuss about the identification of susceptibility genes through analysis of chromosomal structural variation (gains and losses of genetic material). Lastly, we introduce the concept of re-sequencing, where the entire genome/exome is sequenced both in affected and unaffected individuals. This approach has the potential to provide a clarified picture of the majority of the genetic variation underlying disease pathogenesis.
Kiran K Mantripragada; Liam S Carroll; Nigel M Williams
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Current topics in behavioral neurosciences     Volume:  4     ISSN:  1866-3370     ISO Abbreviation:  Curr Top Behav Neurosci     Publication Date:  2010  
Date Detail:
Created Date:  2011-02-11     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101535383     Medline TA:  Curr Top Behav Neurosci     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  587-610     Citation Subset:  IM    
Department of Psychological Medicine and Neurology, MRC Centre in Neuropsychiatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff, UK.
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