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Genetics of Obesity

  • Lotte Kleinendorst
  • Mieke M. van Haelst
  • Erica L. T. van den AkkerEmail author
Chapter
Part of the Experientia Supplementum book series (EXS, volume 111)

Abstract

Obesity is caused by an imbalance between energy intake and output, influenced by numerous environmental, biological, and genetic factors. Only a minority of people with obesity have a genetic defect that is the main cause of their obesity. A key symptom for most of these disorders is early-onset obesity and hyperphagia. For some genetic obesity disorders, the hyperphagia is the main characteristic, often caused by disruptions of the leptin-melanocortin pathway, the central pathway that regulates the body’s satiety and energy balance. For other disorders, obesity is part of a distinct combination of other clinical features such as intellectual disability, dysmorphic facial features, or organ abnormalities. This chapter focuses on genetic obesity disorders and also summarizes the present knowledge on the genetics of the more common polygenic/multifactorial obesity.

Keywords

Body weight regulation Common obesity Early-onset obesity Hyperphagia Leptin-melanocortin pathway Genetic obesity Non-syndromic obesity Syndromic obesity 

Abbreviations

ACTH

Adrenocorticotropic hormone

AgRP

Agouti-related protein

AHO

Albright hereditary osteodystrophy

BBS

Bardet-Biedl syndrome

BMI

Body mass index

CCK

Cholecystokinin

GLP-1

Glucagon-like peptide-1

ID

Intellectual disability

MC3R

Melanocortin 3 receptor

MC4R

Melanocortin 4 receptor

MSH

Melanocyte-stimulating hormone

NPY

Neuropeptide Y

PHP1a

Pseudohypoparathyroidism type 1a

POMC

Proopiomelanocortin

PWS

Prader-Willi syndrome

PYY

Peptide YY

UPD

Uniparental disomy

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Lotte Kleinendorst
    • 1
    • 2
    • 3
  • Mieke M. van Haelst
    • 2
    • 3
  • Erica L. T. van den Akker
    • 1
    • 4
    Email author
  1. 1.Obesity Center CGG, Erasmus MC, University Medical CenterRotterdamThe Netherlands
  2. 2.Department of Clinical GeneticsAmsterdam UMC, Location AMCAmsterdamThe Netherlands
  3. 3.Department of Clinical GeneticsAmsterdam UMC, Location VUmcAmsterdamThe Netherlands
  4. 4.Division of Endocrinology, Department of PediatricsErasmus MC-Sophia Children’s Hospital, University Medical CenterRotterdamThe Netherlands

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