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Low copy number of ...
Low copy number of the salivary amylase gene predisposes to obesity
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Falchi, M. (author)
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El-Sayed Moustafa, J. S. (author)
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Takousis, P. (author)
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Pesce, F. (author)
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Bonnefond, A. (author)
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- Andersson-Assarsson, Johanna C., 1974 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine
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Sudmant, P. H. (author)
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Dorajoo, R. (author)
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Al-Shafai, M. N. (author)
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Bottolo, L. (author)
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Ozdemir, E. (author)
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So, H. C. (author)
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Davies, R. W. (author)
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Patrice, A. (author)
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Dent, R. (author)
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Mangino, M. (author)
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Hysi, P. G. (author)
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Dechaume, A. (author)
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Huyvaert, M. (author)
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Skinner, J. (author)
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Pigeyre, M. (author)
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Caiazzo, R. (author)
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Raverdy, V. (author)
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Vaillant, E. (author)
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Field, S. (author)
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Balkau, B. (author)
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Marre, M. (author)
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Visvikis-Siest, S. (author)
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Weill, J. (author)
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Poulain-Godefroy, O. (author)
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- Jacobson, Peter, 1962 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine
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- Sjöström, Lars (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine
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Hammond, C. J. (author)
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Deloukas, P. (author)
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Sham, P. C. (author)
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McPherson, R. (author)
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Lee, J. (author)
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Tai, E. S. (author)
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Sladek, R. (author)
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- Carlsson, Lena M S, 1957 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine
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Walley, A. (author)
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Eichler, E. E. (author)
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Pattou, F. (author)
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Spector, T. D. (author)
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Froguel, P. (author)
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(creator_code:org_t)
- 2014-03-30
- 2014
- English.
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In: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 46:5, s. 492-497
- Related links:
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https://europepmc.or...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Subject headings
Close
- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
Keyword
- alpha amylase pancreas isoenzyme
- alpha amylase saliva isoenzyme
- adult
- article
- body mass
- carbohydrate metabolism
- controlled study
- copy number variation
- enzyme blood level
- fat mass
- female
- gene cluster
- gene expression
- gene identification
- genetic association
- genetic predisposition
- genetic variability
- heritability
- human
- human tissue
- insulin release
- major clinical study
- male
- nucleotide sequence
- obesity
- priority journal
- saliva level
- subcutaneous fat
- adipose tissue
- Chinese
- enzyme activity
- European
- gene linkage disequilibrium
- gene mapping
- gene replication
- genetic risk
- overlapping gene
- principal component analysis
- sugar intake
- Body Mass Index
- Gene Dosage
- Genetic Predisposition to Disease
- Genomics
- Humans
- Microarray Analysis
- Odds Ratio
- Salivary alpha-Amylases
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
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Falchi, M.
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El-Sayed Moustaf ...
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Takousis, P.
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Pesce, F.
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Bonnefond, A.
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Andersson-Assars ...
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show more...
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Sudmant, P. H.
-
Dorajoo, R.
-
Al-Shafai, M. N.
-
Bottolo, L.
-
Ozdemir, E.
-
So, H. C.
-
Davies, R. W.
-
Patrice, A.
-
Dent, R.
-
Mangino, M.
-
Hysi, P. G.
-
Dechaume, A.
-
Huyvaert, M.
-
Skinner, J.
-
Pigeyre, M.
-
Caiazzo, R.
-
Raverdy, V.
-
Vaillant, E.
-
Field, S.
-
Balkau, B.
-
Marre, M.
-
Visvikis-Siest, ...
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Weill, J.
-
Poulain-Godefroy ...
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Jacobson, Peter, ...
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Sjöström, Lars
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Hammond, C. J.
-
Deloukas, P.
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Sham, P. C.
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McPherson, R.
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Lee, J.
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Tai, E. S.
-
Sladek, R.
-
Carlsson, Lena M ...
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Walley, A.
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Eichler, E. E.
-
Pattou, F.
-
Spector, T. D.
-
Froguel, P.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
- Articles in the publication
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Nature Genetics
- By the university
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University of Gothenburg