Perspectives: molecular genetic research in human obesity

Summary Within the past decade the molecular basis of single forms of monogenic obesity has been elucidated. With the exception of functionally relevant mutations in the melanocortin‐4 receptor gene, which occur in approximately 2–4% of extremely obese individuals, all other currently known monogeni...

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Bibliographic Details
Published in:Obesity reviews 2003-08, Vol.4 (3), p.139-146
Main Authors: Hebebrand, J., Friedel, S., Schäuble, N., Geller, F., Hinney, A.
Format: Article
Language:English
Subjects:
Ascertainment
BMI
candidate gene
Genetic Predisposition to Disease
genome scan
Humans
Mutation
Obesity - genetics
phenotyping
Polymorphism, Genetic
Research Design
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Summary:Summary Within the past decade the molecular basis of single forms of monogenic obesity has been elucidated. With the exception of functionally relevant mutations in the melanocortin‐4 receptor gene, which occur in approximately 2–4% of extremely obese individuals, all other currently known monogenic forms are rare and additionally associated with distinct endocrinological abnormalities. A large number of association studies have been performed in ‘normal’ obesity. Whereas many associations have been reported, it is largely unclear which of these represent true positive findings. Over 20 genome scans pertaining to obesity and related phenotypes have been performed; specific chromosomal peak regions have been identified in different scans. We review the current status and discuss relevant issues related to phenotyping, association and linkage studies. We recommend that the procedure via which a consensus is reached as to what constitutes a true positive association finding requires formalization.
ISSN:1467-7881
1467-789X
DOI:10.1046/j.1467-789X.2003.00106.x