WFRF:(Carlsson R.)
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 07765naa a2201813 4500 | |
| 001 | oai:gup.ub.gu.se/119014 | |
| 003 | SwePub | |
| 008 | 240528s2010 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://gup.ub.gu.se/publication/1190142 URI |
| 024 | 7 | a https://doi.org/10.1038/nature087272 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 Walters, R G4 aut |
| 245 | 1 0 | a A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. |
| 264 | 1 | b Springer Science and Business Media LLC,c 2010 |
| 520 | a Obesity has become a major worldwide challenge to public health, owing to an interaction between the Western 'obesogenic' environment and a strong genetic contribution. Recent extensive genome-wide association studies (GWASs) have identified numerous single nucleotide polymorphisms associated with obesity, but these loci together account for only a small fraction of the known heritable component. Thus, the 'common disease, common variant' hypothesis is increasingly coming under challenge. Here we report a highly penetrant form of obesity, initially observed in 31 subjects who were heterozygous for deletions of at least 593 kilobases at 16p11.2 and whose ascertainment included cognitive deficits. Nineteen similar deletions were identified from GWAS data in 16,053 individuals from eight European cohorts. These deletions were absent from healthy non-obese controls and accounted for 0.7% of our morbid obesity cases (body mass index (BMI) >or= 40 kg m(-2) or BMI standard deviation score >or= 4; P = 6.4 x 10(-8), odds ratio 43.0), demonstrating the potential importance in common disease of rare variants with strong effects. This highlights a promising strategy for identifying missing heritability in obesity and other complex traits: cohorts with extreme phenotypes are likely to be enriched for rare variants, thereby improving power for their discovery. Subsequent analysis of the loci so identified may well reveal additional rare variants that further contribute to the missing heritability, as recently reported for SIM1 (ref. 3). The most productive approach may therefore be to combine the 'power of the extreme' in small, well-phenotyped cohorts, with targeted follow-up in case-control and population cohorts. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 653 | a Adolescent | |
| 653 | a Adult | |
| 653 | a Age of Onset | |
| 653 | a Aging | |
| 653 | a Body Mass Index | |
| 653 | a Case-Control Studies | |
| 653 | a Child | |
| 653 | a Chromosome Deletion | |
| 653 | a Chromosomes | |
| 653 | a Human | |
| 653 | a Pair 16 | |
| 653 | a genetics | |
| 653 | a Cognition Disorders | |
| 653 | a complications | |
| 653 | a genetics | |
| 653 | a Cohort Studies | |
| 653 | a Europe | |
| 653 | a Female | |
| 653 | a Genome-Wide Association Study | |
| 653 | a Heterozygote | |
| 653 | a Humans | |
| 653 | a Inheritance Patterns | |
| 653 | a genetics | |
| 653 | a Male | |
| 653 | a Mutation | |
| 653 | a genetics | |
| 653 | a Obesity | |
| 653 | a complications | |
| 653 | a genetics | |
| 653 | a physiopathology | |
| 653 | a Penetrance | |
| 653 | a Reproducibility of Results | |
| 653 | a Sex Characteristics | |
| 653 | a Young Adult | |
| 700 | 1 | a Jacquemont, S4 aut |
| 700 | 1 | a Valsesia, A4 aut |
| 700 | 1 | a de Smith, A J4 aut |
| 700 | 1 | a Martinet, D4 aut |
| 700 | 1 | a Andersson, J4 aut |
| 700 | 1 | a Falchi, M4 aut |
| 700 | 1 | a Chen, F4 aut |
| 700 | 1 | a Andrieux, J4 aut |
| 700 | 1 | a Lobbens, S4 aut |
| 700 | 1 | a Delobel, B4 aut |
| 700 | 1 | a Stutzmann, F4 aut |
| 700 | 1 | a El-Sayed Moustafa, J S4 aut |
| 700 | 1 | a Chèvre, J-C4 aut |
| 700 | 1 | a Lecoeur, C4 aut |
| 700 | 1 | a Vatin, V4 aut |
| 700 | 1 | a Bouquillon, S4 aut |
| 700 | 1 | a Buxton, J L4 aut |
| 700 | 1 | a Boute, O4 aut |
| 700 | 1 | a Holder-Espinasse, M4 aut |
| 700 | 1 | a Cuisset, J-M4 aut |
| 700 | 1 | a Lemaitre, M-P4 aut |
| 700 | 1 | a Ambresin, A-E4 aut |
| 700 | 1 | a Brioschi, A4 aut |
| 700 | 1 | a Gaillard, M4 aut |
| 700 | 1 | a Giusti, V4 aut |
| 700 | 1 | a Fellmann, F4 aut |
| 700 | 1 | a Ferrarini, A4 aut |
| 700 | 1 | a Hadjikhani, N4 aut |
| 700 | 1 | a Campion, D4 aut |
| 700 | 1 | a Guilmatre, A4 aut |
| 700 | 1 | a Goldenberg, A4 aut |
| 700 | 1 | a Calmels, N4 aut |
| 700 | 1 | a Mandel, J-L4 aut |
| 700 | 1 | a Le Caignec, C4 aut |
| 700 | 1 | a David, A4 aut |
| 700 | 1 | a Isidor, B4 aut |
| 700 | 1 | a Cordier, M-P4 aut |
| 700 | 1 | a Dupuis-Girod, S4 aut |
| 700 | 1 | a Labalme, A4 aut |
| 700 | 1 | a Sanlaville, D4 aut |
| 700 | 1 | a Béri-Dexheimer, M4 aut |
| 700 | 1 | a Jonveaux, P4 aut |
| 700 | 1 | a Leheup, B4 aut |
| 700 | 1 | a Ounap, K4 aut |
| 700 | 1 | a Bochukova, E G4 aut |
| 700 | 1 | a Henning, E4 aut |
| 700 | 1 | a Keogh, J4 aut |
| 700 | 1 | a Ellis, R J4 aut |
| 700 | 1 | a Macdermot, K D4 aut |
| 700 | 1 | a van Haelst, M M4 aut |
| 700 | 1 | a Vincent-Delorme, C4 aut |
| 700 | 1 | a Plessis, G4 aut |
| 700 | 1 | a Touraine, R4 aut |
| 700 | 1 | a Philippe, A4 aut |
| 700 | 1 | a Malan, V4 aut |
| 700 | 1 | a Mathieu-Dramard, M4 aut |
| 700 | 1 | a Chiesa, J4 aut |
| 700 | 1 | a Blaumeiser, B4 aut |
| 700 | 1 | a Kooy, R F4 aut |
| 700 | 1 | a Caiazzo, R4 aut |
| 700 | 1 | a Pigeyre, M4 aut |
| 700 | 1 | a Balkau, B4 aut |
| 700 | 1 | a Sladek, R4 aut |
| 700 | 1 | a Bergmann, S4 aut |
| 700 | 1 | a Mooser, V4 aut |
| 700 | 1 | a Waterworth, D4 aut |
| 700 | 1 | a Reymond, A4 aut |
| 700 | 1 | a Vollenweider, P4 aut |
| 700 | 1 | a Waeber, G4 aut |
| 700 | 1 | a Kurg, A4 aut |
| 700 | 1 | a Palta, P4 aut |
| 700 | 1 | a Esko, T4 aut |
| 700 | 1 | a Metspalu, A4 aut |
| 700 | 1 | a Nelis, M4 aut |
| 700 | 1 | a Elliott, P4 aut |
| 700 | 1 | a Hartikainen, A-L4 aut |
| 700 | 1 | a McCarthy, M I4 aut |
| 700 | 1 | a Peltonen, L4 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 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 Huang, N4 aut |
| 700 | 1 | a Hurles, M E4 aut |
| 700 | 1 | a O'Rahilly, S4 aut |
| 700 | 1 | a Farooqi, I S4 aut |
| 700 | 1 | a Männik, K4 aut |
| 700 | 1 | a Jarvelin, M-R4 aut |
| 700 | 1 | a Pattou, F4 aut |
| 700 | 1 | a Meyre, D4 aut |
| 700 | 1 | a Walley, A J4 aut |
| 700 | 1 | a Coin, L J M4 aut |
| 700 | 1 | a Blakemore, A I F4 aut |
| 700 | 1 | a Froguel, P4 aut |
| 700 | 1 | a Beckmann, J S4 aut |
| 710 | 2 | a Göteborgs universitetb Institutionen för medicin, avdelningen för molekylär och klinisk medicin4 org |
| 773 | 0 | t Natured : Springer Science and Business Media LLCg 463:7281, s. 671-5q 463:7281<671-5x 1476-4687x 0028-0836 |
| 856 | 4 | u https://europepmc.org/articles/pmc2880448?pdf=render |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/119014 |
| 856 | 4 8 | u https://doi.org/10.1038/nature08727 |
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- Walters, R G
- Jacquemont, S
- Valsesia, A
- de Smith, A J
- Martinet, D
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- Falchi, M
- Chen, F
- Andrieux, J
- Lobbens, S
- Delobel, B
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- Chèvre, J-C
- Lecoeur, C
- Vatin, V
- Bouquillon, S
- Buxton, J L
- Boute, O
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- Cuisset, J-M
- Lemaitre, M-P
- Ambresin, A-E
- Brioschi, A
- Gaillard, M
- Giusti, V
- Fellmann, F
- Ferrarini, A
- Hadjikhani, N
- Campion, D
- Guilmatre, A
- Goldenberg, A
- Calmels, N
- Mandel, J-L
- Le Caignec, C
- David, A
- Isidor, B
- Cordier, M-P
- Dupuis-Girod, S
- Labalme, A
- Sanlaville, D
- Béri-Dexheimer, ...
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- Leheup, B
- Ounap, K
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