WFRF:(Carlsson R.)
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 06422naa a2201381 4500 | |
| 001 | oai:gup.ub.gu.se/213019 | |
| 003 | SwePub | |
| 008 | 240528s2014 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://gup.ub.gu.se/publication/2130192 URI |
| 024 | 7 | a https://doi.org/10.1038/ng.29392 DOI |
| 040 | a (SwePub)gu | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Falchi, M.4 aut |
| 245 | 1 0 | a Low copy number of the salivary amylase gene predisposes to obesity |
| 264 | c 2014-03-30 | |
| 264 | 1 | b Nature Publishing Group,c 2014 |
| 520 | a 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. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicin0 (SwePub)3022 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicine0 (SwePub)3022 hsv//eng |
| 653 | a alpha amylase pancreas isoenzyme | |
| 653 | a alpha amylase saliva isoenzyme | |
| 653 | a adult | |
| 653 | a article | |
| 653 | a body mass | |
| 653 | a carbohydrate metabolism | |
| 653 | a controlled study | |
| 653 | a copy number variation | |
| 653 | a enzyme blood level | |
| 653 | a fat mass | |
| 653 | a female | |
| 653 | a gene cluster | |
| 653 | a gene expression | |
| 653 | a gene identification | |
| 653 | a genetic association | |
| 653 | a genetic predisposition | |
| 653 | a genetic variability | |
| 653 | a heritability | |
| 653 | a human | |
| 653 | a human tissue | |
| 653 | a insulin release | |
| 653 | a major clinical study | |
| 653 | a male | |
| 653 | a nucleotide sequence | |
| 653 | a obesity | |
| 653 | a priority journal | |
| 653 | a saliva level | |
| 653 | a subcutaneous fat | |
| 653 | a adipose tissue | |
| 653 | a Chinese | |
| 653 | a enzyme activity | |
| 653 | a European | |
| 653 | a gene linkage disequilibrium | |
| 653 | a gene mapping | |
| 653 | a gene replication | |
| 653 | a genetic risk | |
| 653 | a overlapping gene | |
| 653 | a principal component analysis | |
| 653 | a sugar intake | |
| 653 | a Body Mass Index | |
| 653 | a Gene Dosage | |
| 653 | a Genetic Predisposition to Disease | |
| 653 | a Genomics | |
| 653 | a Humans | |
| 653 | a Microarray Analysis | |
| 653 | a Odds Ratio | |
| 653 | a Salivary alpha-Amylases | |
| 700 | 1 | a El-Sayed Moustafa, J. S.4 aut |
| 700 | 1 | a Takousis, P.4 aut |
| 700 | 1 | a Pesce, F.4 aut |
| 700 | 1 | a Bonnefond, A.4 aut |
| 700 | 1 | a Andersson-Assarsson, Johanna C.,d 1974u Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine4 aut0 (Swepub:gu)xanjoh |
| 700 | 1 | a Sudmant, P. H.4 aut |
| 700 | 1 | a Dorajoo, R.4 aut |
| 700 | 1 | a Al-Shafai, M. N.4 aut |
| 700 | 1 | a Bottolo, L.4 aut |
| 700 | 1 | a Ozdemir, E.4 aut |
| 700 | 1 | a So, H. C.4 aut |
| 700 | 1 | a Davies, R. W.4 aut |
| 700 | 1 | a Patrice, A.4 aut |
| 700 | 1 | a Dent, R.4 aut |
| 700 | 1 | a Mangino, M.4 aut |
| 700 | 1 | a Hysi, P. G.4 aut |
| 700 | 1 | a Dechaume, A.4 aut |
| 700 | 1 | a Huyvaert, M.4 aut |
| 700 | 1 | a Skinner, J.4 aut |
| 700 | 1 | a Pigeyre, M.4 aut |
| 700 | 1 | a Caiazzo, R.4 aut |
| 700 | 1 | a Raverdy, V.4 aut |
| 700 | 1 | a Vaillant, E.4 aut |
| 700 | 1 | a Field, S.4 aut |
| 700 | 1 | a Balkau, B.4 aut |
| 700 | 1 | a Marre, M.4 aut |
| 700 | 1 | a Visvikis-Siest, S.4 aut |
| 700 | 1 | a Weill, J.4 aut |
| 700 | 1 | a Poulain-Godefroy, O.4 aut |
| 700 | 1 | a Jacobson, Peter,d 1962u Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine4 aut0 (Swepub:gu)xjacop |
| 700 | 1 | a Sjöström, Larsu Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine4 aut0 (Swepub:gu)xsjosl |
| 700 | 1 | a Hammond, C. J.4 aut |
| 700 | 1 | a Deloukas, P.4 aut |
| 700 | 1 | a Sham, P. C.4 aut |
| 700 | 1 | a McPherson, R.4 aut |
| 700 | 1 | a Lee, J.4 aut |
| 700 | 1 | a Tai, E. S.4 aut |
| 700 | 1 | a Sladek, R.4 aut |
| 700 | 1 | a Carlsson, Lena M S,d 1957u Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine4 aut0 (Swepub:gu)xcarle |
| 700 | 1 | a Walley, A.4 aut |
| 700 | 1 | a Eichler, E. E.4 aut |
| 700 | 1 | a Pattou, F.4 aut |
| 700 | 1 | a Spector, T. D.4 aut |
| 700 | 1 | a Froguel, P.4 aut |
| 710 | 2 | a Göteborgs universitetb Institutionen för medicin, avdelningen för molekylär och klinisk medicin4 org |
| 773 | 0 | t Nature Geneticsd : Nature Publishing Groupg 46:5, s. 492-497q 46:5<492-497x 1061-4036x 1546-1718 |
| 856 | 4 | u https://europepmc.org/articles/pmc6485469?pdf=render |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/213019 |
| 856 | 4 8 | u https://doi.org/10.1038/ng.2939 |
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- 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.
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