Document Detail

Integrated approaches to functionally characterize novel factors in lipoprotein metabolism.
MedLine Citation:
PMID:  22327609     Owner:  NLM     Status:  Publisher    
PURPOSE OF REVIEW: To discuss if and how the combined analysis of large-scale datasets from multiple independent sources benefits the mapping of novel genetic elements with relevance to lipoprotein metabolism and allows for conclusions on underlying molecular mechanisms. RECENT FINDINGS: Genome-wide association studies (GWAS) have identified numerous genomic loci associated with plasma lipid levels and cardiovascular disease. Yet, despite being highly successful in mapping novel loci the GWAS approach falls short to systematically extract functional information from genomic data. With the aim to complement GWAS for a better insight into disease mechanisms and identification of the most promising targets for drug development, a number of high-throughput functional genomics strategies have now been applied. These include computational approaches, consideration of gene-gene and gene-environment interactions, as well as unbiased gene-expression analyses in relevant tissues. For a limited number of loci, mechanistic insight has been gained through in-vitro and in-vivo studies by knockdown and overexpression of candidate genes. SUMMARY: The integration of GWAS data with existing functional genomics strategies has contributed to ascertain the relevance of a number of novel factors for lipoprotein biology and disease. However, technologies are warranted that provide a more systematic insight into the molecular function and pathogenic relevance of promising candidate genes.
Heiko Runz
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-2-9
Journal Detail:
Title:  Current opinion in lipidology     Volume:  -     ISSN:  1473-6535     ISO Abbreviation:  -     Publication Date:  2012 Feb 
Date Detail:
Created Date:  2012-2-13     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9010000     Medline TA:  Curr Opin Lipidol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
aInstitute of Human Genetics, University of Heidelberg bMolecular Medicine Partnership Unit (MMPU), University of Heidelberg/EMBL, Heidelberg, Germany.
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