NDLI: Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case

Please wait, while we are loading the content...

Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case–control study

Evaluation of imputation-based association in and around the integrin-α-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE)

Year: 2009, Volume: 18, Issue: 5

Year: 2009, Volume: 18, Issue: 4

Year: 2009, Volume: 18, Issue: 3

Year: 2009, Volume: 18, Issue: 1

Year: 2008, Volume: 18

Year: 2008, Volume: 17

Year: 2007, Volume: 17

Year: 2007, Volume: 16

Year: 2006, Volume: 16

Year: 2006, Volume: 15

Year: 2005, Volume: 15

Year: 2005, Volume: 14

Year: 2004, Volume: 14

Year: 2004, Volume: 13

Year: 2003, Volume: 13

Year: 2003, Volume: 12

Year: 2002, Volume: 11

Year: 2001, Volume: 10

Year: 1999, Volume: 8

Year: 1997, Volume: 6

Year: 1994, Volume: 3

Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case–control study

Content Provider	PubMed Central
Author	Calton, Melissa A. Ersoy, Baran A. Zhang, Sumei Kane, John P. Malloy, Mary J. Pullinger, Clive R. Bromberg, Yana Pennacchio, Len A. Dent, Robert Mcpherson, Ruth Ahituv, Nadav Vaisse, Christian
Copyright Year	2009
Abstract	Functionally significant heterozygous mutations in the Melanocortin-4 receptor (MC4R) have been implicated in 2.5% of early onset obesity cases in European cohorts. The role of mutations in this gene in severely obese adults, particularly in smaller North American patient cohorts, has been less convincing. More recently, it has been proposed that mutations in a phylogenetically and physiologically related receptor, the Melanocortin-3 receptor (MC3R), could also be a cause of severe human obesity. The objectives of this study were to determine if mutations impairing the function of MC4R or MC3R were associated with severe obesity in North American adults. We studied MC4R and MC3R mutations detected in a total of 1821 adults (889 severely obese and 932 lean controls) from two cohorts. We systematically and comparatively evaluated the functional consequences of all mutations found in both MC4R and MC3R. The total prevalence of rare MC4R variants in severely obese North American adults was 2.25% (CI95%: 1.44–3.47) compared with 0.64% (CI95%: 0.26–1.43) in lean controls (P < 0.005). After classification of functional consequence, the prevalence of MC4R mutations with functional alterations was significantly greater when compared with controls (P < 0.005). In contrast, the prevalence of rare MC3R variants was not significantly increased in severely obese adults [0.67% (CI95%: 0.27–1.50) versus 0.32% (CI95%: 0.06–0.99)] (P = 0.332). Our results confirm that mutations in MC4R are a significant cause of severe obesity, extending this finding to North American adults. However, our data suggest that MC3R mutations are not associated with severe obesity in this population.
Related Links	http://dx.doi.org/10.1093/hmg/ddn431
Ending Page	1147
Page Count	8
Starting Page	1140
File Format	PDF
ISSN	09646906
e-ISSN	14602083
Journal	Human Molecular Genetics
Issue Number	6
Volume Number	18
Language	English
Publisher	Oxford University Press
Publisher Date	2009-01-01
Access Restriction	Open
Rights Holder	Oxford University Press
Subject Keyword	Genetics(clinical) Genetics Molecular Biology Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Molecular Biology Genetics (clinical)

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case–control study

Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms

Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity

Melanocortin-4 Receptor Gene: Case-Control Study and Transmission Disequilibrium Test Confirm that Functionally Relevant Mutations Are Compatible with a Major Gene Effect for Extreme Obesity

Clinical and Functional Characterization of Melanocortin 4 Receptor genetic variants in African American and/or Hispanic children with severe early onset obesity

A novel missense mutation T101N in the melanocortin-4 receptor gene associated with obesity.

Association between melanocortin-4 receptor mutations and eating behaviors in obese patients: a case--control study.

Anesthetic management for adenotonsillectomy of a child with severe obesity due to homozygous melanocortin-4 receptor gene mutations.

Association of leptin–melanocortin gene polymorphisms with the risk of obesity in northwest Indian population

Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case–control study

Similar Documents

Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case–control study

Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms

Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity

Melanocortin-4 Receptor Gene: Case-Control Study and Transmission Disequilibrium Test Confirm that Functionally Relevant Mutations Are Compatible with a Major Gene Effect for Extreme Obesity

Clinical and Functional Characterization of Melanocortin 4 Receptor genetic variants in African American and/or Hispanic children with severe early onset obesity

A novel missense mutation T101N in the melanocortin-4 receptor gene associated with obesity.

Association between melanocortin-4 receptor mutations and eating behaviors in obese patients: a case--control study.

Anesthetic management for adenotonsillectomy of a child with severe obesity due to homozygous melanocortin-4 receptor gene mutations.

Association of leptin–melanocortin gene polymorphisms with the risk of obesity in northwest Indian population

Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case–control study