ArticleNature genetics2014
Low copy number of the salivary amylase gene predisposes to obesity.
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Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 114 papers, 1 of them a synthesis that pooled it.
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114citing papers in PubMed, 1 pooled it
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Who cites it
114 citing papers in PubMed, 1 synthesis or guideline pooled it, 262 citations in OpenAlex.
- New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk.Nature communications · 2016Pooled it
- Salivary Amylase Gene Copy Number Relates with BMI Z-Score and with Response to Lifestyle Intervention for Children with Overweight and Obesity.International journal of molecular sciences · 2025Trial
- Reduced odds of diabetes associated with high plasma salivary α-amylase activity in Qatari women: a cross-sectional study.Scientific reports · 2021Trial
- Trial
- Trial
- The role of digestive factors in determining glycemic response in a multiethnic Asian population.European journal of nutrition · 2016Trial
- Human-Centered Innovation: Precision Nutrition and the Future of Food.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Review
- A phenome-wide association study of CNVs genotyped from genome sequencing read depth in the UK Biobank.American journal of human genetics · 2026Article
- The inverse relationship between copy number variation burden and age of onset of metabolic syndrome in Korean middle-aged adults.BMC medical genomics · 2026Article
- Article
- Effects of salivary amylase gene copy number on metabolic health.Frontiers in nutrition · 2026Review
- Body Mass Index and Inter-Individual Variation in Salivary Amylase Gene Copy Number Assessed Using an In-House Validated Method: A Pilot Study from the National Nutrition Survey of a High Rice-Consuming Nation.Lifestyle genomics · 2026Article
- Proteomic Analysis of Serum Samples in Ovulatory Polycystic Ovary Syndrome and Construction of a Protein Interaction Pathway.The protein journal · 2025Article
- Article
- The role of AMY1 gene copy number variation in dental caries susceptibility: insights from a Turkish population.BMC oral health · 2025Article
- Obesity Parameters in Women Is Associated With AMY1 Gene Copy Number, Nesfatin-1 Level, and Dietary Intake: A Case-Control Study.Molecular nutrition & food research · 2025Article
- The Interplay of UCP3 and PCSK1 Variants in Severe Obesity.Current obesity reports · 2025Review
- The association between salivary amylase gene copy number and enzyme activity with type 2 diabetes status.PloS one · 2025Article
- Article
- Deciphering the role of structural variation in human evolution: a functional perspective.Current opinion in genetics & development · 2024Review
54 more citing papers are in PubMed but not listed here.
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Authors and funding
45 authors at 20 institutions in 9 countries.
Mario Falchi1] Department of Genomics of Common Disease, Imperial College London, London, UK. [2] [3] [4].
Julia Sarah El-Sayed Moustafa1] Department of Genomics of Common Disease, Imperial College London, London, UK. [2].
Petros TakousisDepartment of Genomics of Common Disease, Imperial College London, London, UK.
Francesco Pesce1] Department of Genomics of Common Disease, Imperial College London, London, UK. [2] Renal, Dialysis and Transplant Unit, Department of Emergency and Organ Transplantation (D.E.T.O.), University of Bari "Aldo Moro", Bari, Italy.
Amélie Bonnefond1] CNRS UMR 8199, Lille Pasteur Institute, Lille, France. [2] Lille 2 University, Lille, France. [3] Qatar Biomedical Research Institute (QBRI), Qatar Foundation, Doha, Qatar. [4] European Genomic Institute for Diabetes (EGID), Lille, France.
Johanna C Andersson-Assarsson1] Department of Genomics of Common Disease, Imperial College London, London, UK. [2] Department of Molecular and Clinical Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. [3] Center for Cardiovascular and Metabolic Research, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Peter H SudmantDepartment of Genome Sciences, University of Washington, Seattle, Washington, USA.
Rajkumar Dorajoo1] Department of Genomics of Common Disease, Imperial College London, London, UK. [2] Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore.
Mashael Nedham Al-Shafai1] Department of Genomics of Common Disease, Imperial College London, London, UK. [2] Research Division, Qatar Foundation, Doha, Qatar.
Leonardo BottoloDepartment of Mathematics, Imperial College London, London, UK.
Erdal OzdemirDepartment of Genomics of Common Disease, Imperial College London, London, UK.
Hon-Cheong SoDepartment of Psychiatry, University of Hong Kong, Hong Kong, China.
Robert W DaviesCardiovascular Research Methods Centre, University of Ottawa Heart Institute, Ottawa, Ontario, Canada.
Alexandre Patrice1] European Genomic Institute for Diabetes (EGID), Lille, France. [2] INSERM UMR 859, Lille, France. [3] Centre Hospitalier Régional Universitaire (CHRU) Lille, Lille, France.
Robert DentBariatric Program, Ottawa Hospital, Ottawa, Ontario, Canada.
Massimo ManginoDepartment of Twin Research & Genetic Epidemiology, King's College London, St. Thomas' Hospital Campus, London, UK.
Pirro G HysiDepartment of Twin Research & Genetic Epidemiology, King's College London, St. Thomas' Hospital Campus, London, UK.
Aurélie Dechaume1] CNRS UMR 8199, Lille Pasteur Institute, Lille, France. [2] Lille 2 University, Lille, France. [3] European Genomic Institute for Diabetes (EGID), Lille, France.
Marlène Huyvaert1] CNRS UMR 8199, Lille Pasteur Institute, Lille, France. [2] Lille 2 University, Lille, France. [3] European Genomic Institute for Diabetes (EGID), Lille, France.
Jane SkinnerNorwich Medical School, University of East Anglia, Norwich, UK.
Marie Pigeyre1] Lille 2 University, Lille, France. [2] European Genomic Institute for Diabetes (EGID), Lille, France. [3] INSERM UMR 859, Lille, France. [4] Centre Hospitalier Régional Universitaire (CHRU) Lille, Lille, France.
Robert Caiazzo1] Lille 2 University, Lille, France. [2] European Genomic Institute for Diabetes (EGID), Lille, France. [3] INSERM UMR 859, Lille, France. [4] Centre Hospitalier Régional Universitaire (CHRU) Lille, Lille, France.
Violeta Raverdy1] European Genomic Institute for Diabetes (EGID), Lille, France. [2] INSERM UMR 859, Lille, France. [3] Centre Hospitalier Régional Universitaire (CHRU) Lille, Lille, France.
Emmanuel Vaillant1] CNRS UMR 8199, Lille Pasteur Institute, Lille, France. [2] Lille 2 University, Lille, France. [3] European Genomic Institute for Diabetes (EGID), Lille, France.
Sarah FieldWellcome Trust Sanger Institute, Hinxton, UK.
Beverley Balkau1] Centre de Recherche en Epidémiologie et Santé des Populations, INSERM U1018, Epidemiology of Diabetes, Obesity and Chronic Kidney Disease over the Life Course, Villejuif, France. [2] Université Paris-Sud 11, UMRS 1018, Villejuif, France.
Michel Marre1] Department of Endocrinology, Diabetology and Nutrition, Bichat-Claude Bernard University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France. [2] INSERM U695, Paris 7 University, Paris, France.
Sophie Visvikis-SiestINSERM UMR 1122 Interactions Géne-Environnement en Physiopathologie Cardio-Vasculaire, Université de Lorraine, Nancy, France.
Jacques WeillPaediatric Endocrine Unit, Lille Teaching Hospital, Lille, France.
Odile Poulain-Godefroy1] CNRS UMR 8199, Lille Pasteur Institute, Lille, France. [2] Lille 2 University, Lille, France. [3] European Genomic Institute for Diabetes (EGID), Lille, France.
Peter Jacobson1] Department of Molecular and Clinical Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. [2] Center for Cardiovascular and Metabolic Research, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Lars Sjostrom1] Department of Molecular and Clinical Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. [2] Center for Cardiovascular and Metabolic Research, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Christopher J HammondDepartment of Twin Research & Genetic Epidemiology, King's College London, St. Thomas' Hospital Campus, London, UK.ORCID 0000000232272620
Panos Deloukas1] Wellcome Trust Sanger Institute, Hinxton, UK. [2] William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK. [3] Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders (PACER-HD), King Abdulaziz University, Jeddah, Saudi Arabia.ORCID 000000019251070X
Pak Chung ShamDepartment of Psychiatry, University of Hong Kong, Hong Kong, China.
Ruth McPherson1] Atherogenomics Laboratory, University of Ottawa Heart Institute, Ottawa, Ontario, Canada. [2] Division of Cardiology, University of Ottawa Heart Institute, Ottawa, Ontario, Canada.
Jeannette LeeSaw Swee Hock School of Public Health, National University of Singapore, National University Hospital System, Singapore.
E Shyong Tai1] Saw Swee Hock School of Public Health, National University of Singapore, National University Hospital System, Singapore. [2] Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, National University Hospital System, Singapore. [3] Duke-National University of Singapore Graduate Medical School, Singapore.
Robert Sladek1] Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, Quebec, Canada. [2] Department of Medicine, Faculty of Medicine, McGill University, Montreal, Quebec, Canada. [3] McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.
Lena M S Carlsson1] Department of Molecular and Clinical Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. [2] Center for Cardiovascular and Metabolic Research, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Andrew Walley1] Department of Genomics of Common Disease, Imperial College London, London, UK. [2] Section of Genomic Medicine, National Heart and Lung Institute, Imperial College London, London, UK.
Evan E Eichler1] Department of Genome Sciences, University of Washington, Seattle, Washington, USA. [2] Howard Hughes Medical Institute, Seattle, Washington, USA.
Francois Pattou1] Lille 2 University, Lille, France. [2] European Genomic Institute for Diabetes (EGID), Lille, France. [3] INSERM UMR 859, Lille, France. [4] Centre Hospitalier Régional Universitaire (CHRU) Lille, Lille, France.
Timothy D Spector1] Department of Twin Research & Genetic Epidemiology, King's College London, St. Thomas' Hospital Campus, London, UK. [2].
Philippe Froguel1] Department of Genomics of Common Disease, Imperial College London, London, UK. [2] CNRS UMR 8199, Lille Pasteur Institute, Lille, France. [3] Lille 2 University, Lille, France. [4] Qatar Biomedical Research Institute (QBRI), Qatar Foundation, Doha, Qatar. [5] European Genomic Institute for Diabetes (EGID), Lille, France. [6] [7].
Centre National de la Recherche Scientifique · FRGenomics England · GBInserm · FRSt Thomas' Hospital · GBUniversity of Gothenburg · SENational University of Singapore · SGUniversity of Hong Kong · HKUniversity of Ottawa · CAAgency for Science, Technology and Research · SGHoward Hughes Medical Institute · USImperial College London · GBLille’s Cardiology Hospital · FRLung Institute · USMcGill Genome Centre · CAOttawa Hospital · CAQueen Mary University of London · GBUniversité Claude Bernard Lyon 1 · FRUniversité Paris-Sud · FRUniversity College London Qatar · QAUniversity of East Anglia · GB
Funding
Copy number variation in the human genomeP41HG004221 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI LEE, CHARLES · 2007 to 2010
$5.4MCharacterization and Evolution of Copy Number Variation Among PrimatesR01GM081533 · NIGMS · BRIGHAM AND WOMEN'S HOSPITAL · PI LEE, CHARLES · 2008 to 2011
$1.6MBiotechnology and Biological Sciences Research Council G20234Department of Health SRF/01/010Medical Research Council G1002084Medical Research Council G1002084/1Medical Research Council K2010-55X-11285-13Medical Research Council MR/K01353X/1NHGRI NIH HHS HG004221NHGRI NIH HHS P41 HG004221NIGMS NIH HHS GM081533NIGMS NIH HHS R01 GM081533Wellcome TrustWellcome Trust 077006/Z/05/ZWellcome Trust 079534/z/06/zWellcome Trust 085555
Abstract
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.
Indexed as
Body Mass IndexCarbohydrate MetabolismGene DosageGenetic Predisposition to DiseaseGenomicsHumansMicroarray AnalysisObesityOdds RatioSalivary alpha-AmylasesAMY1A protein, humanSalivary alpha-Amylases
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