The heritability of obesity has long been appreciated and the genetics of obesity
has been the focus of intensive study for decades. Early studies elucidating genetic
factors involved in rare monogenic and syndromic forms of extreme obesity focused
attention on dysfunction of hypothalamic leptin–related pathways in the control of
food intake as a major contributor. Subsequent genome-wide association studies of
common genetic variants identified novel loci that are involved in more common forms
of obesity across populations of diverse ethnicities and ages. The subsequent search
for factors contributing to the heritability of obesity not explained by these 2 approaches
(“missing heritability”) has revealed additional rare variants, copy number variants,
and epigenetic changes that contribute. Although clinical applications of these findings
have been limited to date, the increasing understanding of the interplay of these
genetic factors with environmental conditions, such as the increased availability
of high calorie foods and decreased energy expenditure of sedentary lifestyles, promises
to accelerate the translation of genetic findings into more successful preventive
and therapeutic interventions.
Abbreviations:
BMI (Body mass index), CNV (Copy number variants), CPG (cytosine-phosphate-guanine), GCTA (Genome-wide complex trait analysis), GWAS (Genome-wide association study), ITMAT (Institute for Translational Medicine and Therapeutics), MAF (Minor allele frequency), PPARG (peroxisome proliferator-activated receptor gamma), SNP (Single-nucleotide polymorphism), WC (waist circumference), WHR (waist-to-hip ratio)To read this article in full you will need to make a payment
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Article info
Publication history
Published online: May 23, 2014
Accepted:
May 20,
2014
Received in revised form:
May 17,
2014
Received:
February 20,
2014
Identification
Copyright
© 2014 Elsevier Inc. Published by Elsevier Inc. All rights reserved.
