Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Low copy number of the salivary amylase gene predisposes to obesity
Nature Genetics, Volume 46, No. 5, Year 2014
Notification
URL copied to clipboard!
Description
Common multi-allelic copy number variants (CNVs) appear enriched for phenotypic associations compared to their biallelic counterparts. Here we investigated the influence of gene dosage effects on adiposity through a CNV association study of gene expression levels in adipose tissue. We identified significant association of a multi-allelic CNV encompassing the salivary amylase gene (AMY1) with body mass index (BMI) and obesity, and we replicated this finding in 6,200 subjects. Increased AMY1 copy number was positively associated with both amylase gene expression (P = 2.31 × 10-14) and serum enzyme levels (P < 2.20 × 10-16), whereas reduced AMY1 copy number was associated with increased BMI (change in BMI per estimated copy =-0.15 (0.02) kg/m 2; P = 6.93 × 10-10) and obesity risk (odds ratio (OR) per estimated copy = 1.19, 95% confidence interval (CI) = 1.13-1.26; P = 1.46 × 10-10). The OR value of 1.19 per copy of AMY1 translates into about an eightfold difference in risk of obesity between subjects in the top (copy number > 9) and bottom (copy number < 4) 10% of the copy number distribution. Our study provides a first genetic link between carbohydrate metabolism and BMI and demonstrates the power of integrated genomic approaches beyond genome-wide association studies. © 2014 Nature America, Inc. All rights reserved.
Authors & Co-Authors
Falchi, Mario
United Kingdom, London
Imperial College London
El-Sayed-Moustafa, Julia Sarah
United Kingdom, London
Imperial College London
Takousis, Petros
United Kingdom, London
Imperial College London
Pesce, Francesco
United Kingdom, London
Imperial College London
Italy, Bari
Università Degli Studi Di Bari Aldo Moro
Bonnefond, Amélie
France, Lille
Institut Pasteur de Lille
France, Lille
Université de Lille
Qatar, Doha
Qatar Biomedical Research Institute
France, Lille
European Institute Genomic for Diabetes Egid
Andersson-Assarsson, Johanna C.
United Kingdom, London
Imperial College London
Sweden, Gothenburg
Sahlgrenska Akademin
Sudmant, Peter H.
United States, Seattle
University of Washington
Dorajoo, R. S.O.
United Kingdom, London
Imperial College London
Singapore, Singapore City
A-star, Genome Institute of Singapore
Al-Shafai, Mashael Nedham
United Kingdom, London
Imperial College London
Qatar, Doha
Qatar Foundation
Bottolo, Leonardo
United Kingdom, London
Imperial College London
Ozdemir, Erdal
United Kingdom, London
Imperial College London
So, Hon Cheong
Hong Kong, Hong Kong
The University of Hong Kong
Davies, Robert William
Canada, Ottawa
Institut de Cardiologie de L'université D'ottawa
Patrice, Alexandre
France, Lille
European Institute Genomic for Diabetes Egid
France, Paris
Inserm
France, Lille
Chu Lille
Dent, Robert
Canada, Ottawa
L'hôpital D'ottawa
Mangino, Massimo
United Kingdom, London
St Thomas' Hospital
Hysi, Dr Pirro
United Kingdom, London
St Thomas' Hospital
Dechaume, A.
France, Lille
Institut Pasteur de Lille
France, Lille
Université de Lille
France, Lille
European Institute Genomic for Diabetes Egid
Huyvaert, Marlène
France, Lille
Institut Pasteur de Lille
France, Lille
Université de Lille
France, Lille
European Institute Genomic for Diabetes Egid
Skinner, Jane
United Kingdom, Norwich
University of East Anglia, Norwich Medical School
Pigeyre, Marie
France, Lille
Université de Lille
France, Lille
European Institute Genomic for Diabetes Egid
France, Paris
Inserm
France, Lille
Chu Lille
Caïazzo, Robert
France, Lille
Université de Lille
France, Lille
European Institute Genomic for Diabetes Egid
France, Paris
Inserm
France, Lille
Chu Lille
Raverdy, Violeta
France, Lille
European Institute Genomic for Diabetes Egid
France, Paris
Inserm
France, Lille
Chu Lille
Vaillant, Emmanuel
France, Lille
Institut Pasteur de Lille
France, Lille
Université de Lille
France, Lille
European Institute Genomic for Diabetes Egid
Field, Sarah F.
United Kingdom, Hinxton
Wellcome Sanger Institute
Balkau, Beverley J.
France, Villejuif
Centre de Recherche en Épidémiologie et Santé Des Populations
Marre, Michel
France, Paris
Hôpital Bichat-claude-bernard Ap-hp
France, Paris
Inserm
Visvikis-Siest, Sophie
France, Nancy
Université de Lorraine
Weill, Jacques
France, Lille
Paediatric Endocrine Unit, Lille Teaching Hospital
Poulain-Godefroy, Odile
France, Lille
Institut Pasteur de Lille
France, Lille
Université de Lille
France, Lille
European Institute Genomic for Diabetes Egid
Jacobson, Peter
Sweden, Gothenburg
Sahlgrenska Akademin
Sjostrom, Lars
Sweden, Gothenburg
Sahlgrenska Akademin
Hammond, Christopher J.
United Kingdom, London
St Thomas' Hospital
Deloukas, Panos
United Kingdom, Hinxton
Wellcome Sanger Institute
United Kingdom, London
Barts and the London School of Medicine and Dentistry
Saudi Arabia, Jeddah
King Abdulaziz University
Sham, Pak Chung
Hong Kong, Hong Kong
The University of Hong Kong
McPherson, Ruth M.
Canada, Ottawa
Institut de Cardiologie de L'université D'ottawa
Lee, Jeannette Jen Mai
Singapore, Singapore City
National University Hospital
Tai, E. Shyong
Singapore, Singapore City
National University Hospital
Singapore, Singapore City
Nus Yong Loo Lin School of Medicine
Singapore, Singapore City
Duke-nus Medical School
Sladek, Robert S.
Canada, Montreal
Mcgill Faculty of Medicine and Health Sciences
Canada, Montreal
Université Mcgill
Carlsson, Lena M.S.
Sweden, Gothenburg
Sahlgrenska Akademin
Walley, Andrew J.
United Kingdom, London
Imperial College London
United Kingdom, London
National Heart and Lung Institute
Eichler, Evan E.
United States, Seattle
University of Washington
United States, Chevy Chase
Howard Hughes Medical Institute
Pattou, François Ç.
France, Lille
Université de Lille
France, Lille
European Institute Genomic for Diabetes Egid
France, Paris
Inserm
France, Lille
Chu Lille
Spector, Tim David
United Kingdom, London
St Thomas' Hospital
Froguel, Philippe
United Kingdom, London
Imperial College London
France, Lille
Institut Pasteur de Lille
France, Lille
Université de Lille
Qatar, Doha
Qatar Biomedical Research Institute
France, Lille
European Institute Genomic for Diabetes Egid
Statistics
Citations: 232
Authors: 45
Affiliations: 31
Identifiers
Doi:
10.1038/ng.2939
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Genetics And Genomics
Noncommunicable Diseases
Study Design
Case-Control Study