Genetics of Obesity

Kleinendorst, Lotte; van Haelst, Mieke M.; van den Akker, Erica L. T.

doi:10.1007/978-3-030-25905-1_19

Lotte Kleinendorst^3,4,5,
Mieke M. van Haelst^4,5 &
Erica L. T. van den Akker^3,6

Part of the book series: Experientia Supplementum ((EXS,volume 111))

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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.

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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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Authors and Affiliations

Obesity Center CGG, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
Lotte Kleinendorst & Erica L. T. van den Akker
Department of Clinical Genetics, Amsterdam UMC, Location AMC, Amsterdam, The Netherlands
Lotte Kleinendorst & Mieke M. van Haelst
Department of Clinical Genetics, Amsterdam UMC, Location VUmc, Amsterdam, The Netherlands
Lotte Kleinendorst & Mieke M. van Haelst
Division of Endocrinology, Department of Pediatrics, Erasmus MC-Sophia Children’s Hospital, University Medical Center, Rotterdam, The Netherlands
Erica L. T. van den Akker

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Lotte Kleinendorst
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Mieke M. van Haelst
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Erica L. T. van den Akker
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Correspondence to Erica L. T. van den Akker .

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Editors and Affiliations

2nd Department of Internal Medicine, Faculty of Medicine, Semmelweis University, MTA-SE Molecular Medicine Research Group, Hungarian Academy of Sciences and Semmelweis University, Budapest, Hungary
Peter Igaz
Department of Laboratory Medicine, Faculty of Medicine, Semmelweis University, “Lendület” Hereditary Endocrine Tumors Research Group, Hungarian Academy of Sciences and Semmelweis University, Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary
Attila Patócs

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Kleinendorst, L., van Haelst, M.M., van den Akker, E.L.T. (2019). Genetics of Obesity. In: Igaz, P., Patócs, A. (eds) Genetics of Endocrine Diseases and Syndromes. Experientia Supplementum, vol 111. Springer, Cham. https://doi.org/10.1007/978-3-030-25905-1_19

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DOI: https://doi.org/10.1007/978-3-030-25905-1_19
Published: 07 October 2019
Publisher Name: Springer, Cham
Print ISBN: 978-3-030-25904-4
Online ISBN: 978-3-030-25905-1
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