Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating

The Journal of Clinical Endocrinology and Metabolism
Cecile Lubrano-BerthelierChristian Vaisse

Abstract

Heterozygous mutations in the melanocortin-4 receptor (MC4R) gene are the most common monogenic form of severe obesity in children. There are conflicting reports regarding the prevalence, nature, and pathogenic effects of MC4R mutations in adults with severe late-onset obesity. Our objective was to determine the prevalence of MC4R mutations in a cohort of severely obese adults and to determine the clinical phenotype and the phenotype-genotype relationship within adult MC4R mutation carriers. We conducted an observational study at a referral center. Participants included 769 adult patients with body mass index of at least 35 kg/m(2) and 444 nonobese control individuals. There were no interventions. We assessed the prevalence of pathogenic MC4R mutations, functional characteristics of the detected mutations, phenotype, and phenotype-genotype relationship within mutation carriers. The global prevalence of obesity-specific MC4R mutations was 2.6%, and the 95% confidence interval (CI(95)) was 1.5-3.7. The prevalence of MC4R mutations was similar in patients developing obesity in childhood (2.83%; CI(95), 0.9-4.8) and in patients with a later onset of the disease (2.35%; CI(95), 0.9-3.8). Adult obese MC4R mutation carriers did not pr...Continue Reading

Citations

Dec 5, 2006·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Thomas P MeehanMonica J Justice
Jan 16, 2009·International Journal of Obesity : Journal of the International Association for the Study of Obesity·C B KaelinG S Barsh
Aug 25, 2010·International Journal of Obesity : Journal of the International Association for the Study of Obesity·I R AslanC Vaisse
Nov 14, 2012·International Journal of Obesity : Journal of the International Association for the Study of Obesity·M ValetteS Czernichow
Jun 26, 2012·Nature Chemical Biology·Baran A ErsoyChristian Vaisse
Sep 10, 2008·Nature Clinical Practice. Endocrinology & Metabolism·I Sadaf Farooqi, Stephen O'Rahilly
Feb 9, 2011·Nature Reviews. Endocrinology·Gilbert Vassart, Sabine Costagliola
Mar 27, 2013·Nature Reviews. Endocrinology·Julia S El-Sayed Moustafa, Philippe Froguel
Jun 11, 2008·Current Opinion in Clinical Nutrition and Metabolic Care·Christian Dina
Apr 27, 2012·American Journal of Physiology. Endocrinology and Metabolism·Joram D MulRandy J Seeley
Aug 24, 2006·Neuroendocrinology·Jennifer Altman
Aug 24, 2011·Annals of Nutrition & Metabolism·Patrick Tounian
Jun 3, 2011·The Journal of Clinical Investigation·Shwetha Ramachandrappa, I Sadaf Farooqi
Apr 4, 2009·Genome Medicine·Melissa A Calton, Christian Vaisse
Jan 2, 2007·PLoS Genetics·David M Mutch, Karine Clément
Dec 6, 2012·European Journal of Endocrinology·Jacqueline E SiljeeAnneke Alkemade
Aug 3, 2013·Journal of Molecular Endocrinology·A R RodriguesA M Gouveia
Sep 10, 2008·Drugs·Themistoklis TzotzasGerasimos E Krassas
Sep 12, 2009·Clinical Pharmacokinetics·Célia Lloret LinaresStéphane Mouly
Jul 17, 2010·La Presse médicale·Ana ChirilaSandrine Boullu-Ciocca
May 2, 2014·Journal of Molecular Endocrinology·Xiao-Hua WangZhen-Chuan Fan
Dec 9, 2014·Biological Psychiatry·Steven P Hamilton
Jan 21, 2016·Molecular Genetics & Genomic Medicine·Murray LoganMichael S Pepper
May 24, 2011·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·G A Martos-Moreno, J Argente
Feb 8, 2011·European Journal of Pharmacology·Ruth J F Loos
Feb 10, 2011·Molecular Genetics and Metabolism·Sigri BeckersWim Van Hul
Mar 31, 2015·Cell·Agatha A van der Klaauw, I Sadaf Farooqi
Sep 9, 2008·Endocrinology and Metabolism Clinics of North America·Sayali A Ranadive, Christian Vaisse
May 22, 2007·La Presse médicale·Béatrice Dubern, Karine Clément
Nov 8, 2007·Biochemical and Biophysical Research Communications·Do-Hun KimJa-Hyun Baik
Dec 25, 2007·Physiology & Behavior·E C Cottrell, S E Ozanne

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.