© The Author 2006. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Lessons from studying monogenic disease for common disease
1Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland, 2Department of Medical Genetics and Program for Molecular Medicine, University of Helsinki, Finland, 3The Broad Institute of MIT and Harvard, Boston, MA and 4Finnish Genome Center, Department of Clinical Chemistry and Program for Molecular Medicine, University of Helsinki, Finland
* To whom correspondence should be addressed at: National Public Health Institute, Biomedicum Helsinki, Haartmaninkatu 8, 00290 Helsinki, Finland. Tel: +358 947448393; Fax: +358 947448480; Email: leena.peltonen@ktl.fi
Received March 2, 2006; Accepted March 9, 2006
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Introduction |
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The prevailing paradigm for common disease emphasizes the role of common variants predisposing to various rampant health problems, and these genetic risk profiles interact with environmental and life style risk factors triggering the disease process and modifying its progress. However, most of what we know about the molecular background of common diseases is in fact based on what we have learned from rare familial forms of these traits. Further, often the mutations identified in even more rare monogenic diseases sharing some trait components with common diseases have exposed critical new pathways involved in the molecular pathogenesis of common health problems. In this review, we aim to exemplify some of the lessons learned from rare Mendelian forms of diseases that have significantly contributed to our understanding of the genetic background of common diseases and their trait components.
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MENDELIAN CASES OF COMPLEX TRAITS |
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Identification and characterization of different mutations in Mendelian variants of common traits have been
Familial ADs
Familial diabetes, MODY
Familial dyslipidemias
Familial epilepsies and atypical migraines
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RARE MONOGENIC DISEASES REVEALING CRITICAL PATHWAYS |
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Genes of exceptional obesity
Rare syndromes with hypertension
Genes behind monogenic autoimmunity
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SAME GENE, DIFFERENT MUTATIONS IN RARE AND COMMON FORMS OF DISEASE |
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RARE GENOMIC REARRANGEMENTS GUIDING TO PATHWAYS BEHIND COMPLEX TRAITS |
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CONCLUSION |
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ACKNOWLEDGEMENTS |
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