Search: (WFRF:(Jacquemont M.)) srt2:(2010-2014) >
A new highly penetr...
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
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Walters, R G (author)
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Jacquemont, S (author)
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Valsesia, A (author)
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show more...
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de Smith, A J (author)
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Martinet, D (author)
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Andersson, J (author)
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Falchi, M (author)
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Chen, F (author)
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Andrieux, J (author)
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Lobbens, S (author)
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Delobel, B (author)
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Stutzmann, F (author)
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El-Sayed Moustafa, J S (author)
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Chèvre, J-C (author)
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Lecoeur, C (author)
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Vatin, V (author)
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Bouquillon, S (author)
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Buxton, J L (author)
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Boute, O (author)
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Holder-Espinasse, M (author)
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Cuisset, J-M (author)
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Lemaitre, M-P (author)
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Ambresin, A-E (author)
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Brioschi, A (author)
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Gaillard, M (author)
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Giusti, V (author)
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Fellmann, F (author)
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Ferrarini, A (author)
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Hadjikhani, N (author)
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Campion, D (author)
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Guilmatre, A (author)
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Goldenberg, A (author)
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Calmels, N (author)
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Mandel, J-L (author)
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Le Caignec, C (author)
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David, A (author)
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Isidor, B (author)
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Cordier, M-P (author)
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Dupuis-Girod, S (author)
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Labalme, A (author)
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Sanlaville, D (author)
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Béri-Dexheimer, M (author)
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Jonveaux, P (author)
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Leheup, B (author)
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Ounap, K (author)
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Bochukova, E G (author)
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Henning, E (author)
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Keogh, J (author)
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Ellis, R J (author)
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Macdermot, K D (author)
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van Haelst, M M (author)
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Vincent-Delorme, C (author)
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Plessis, G (author)
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Touraine, R (author)
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Philippe, A (author)
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Malan, V (author)
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Mathieu-Dramard, M (author)
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Chiesa, J (author)
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Blaumeiser, B (author)
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Kooy, R F (author)
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Caiazzo, R (author)
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Pigeyre, M (author)
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Balkau, B (author)
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Sladek, R (author)
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Bergmann, S (author)
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Mooser, V (author)
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Waterworth, D (author)
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Reymond, A (author)
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Vollenweider, P (author)
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Waeber, G (author)
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Kurg, A (author)
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Palta, P (author)
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Esko, T (author)
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Metspalu, A (author)
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Nelis, M (author)
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Elliott, P (author)
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Hartikainen, A-L (author)
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McCarthy, M I (author)
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Peltonen, L (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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- 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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Huang, N (author)
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Hurles, M E (author)
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O'Rahilly, S (author)
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Farooqi, I S (author)
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Männik, K (author)
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Jarvelin, M-R (author)
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Pattou, F (author)
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Meyre, D (author)
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Walley, A J (author)
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Coin, L J M (author)
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Blakemore, A I F (author)
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Froguel, P (author)
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Beckmann, J S (author)
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(creator_code:org_t)
- Springer Science and Business Media LLC, 2010
- 2010
- English.
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In: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 463:7281, s. 671-5
- 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
- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- Adolescent
- Adult
- Age of Onset
- Aging
- Body Mass Index
- Case-Control Studies
- Child
- Chromosome Deletion
- Chromosomes
- Human
- Pair 16
- genetics
- Cognition Disorders
- complications
- genetics
- Cohort Studies
- Europe
- Female
- Genome-Wide Association Study
- Heterozygote
- Humans
- Inheritance Patterns
- genetics
- Male
- Mutation
- genetics
- Obesity
- complications
- genetics
- physiopathology
- Penetrance
- Reproducibility of Results
- Sex Characteristics
- Young Adult
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
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Nature
(Search for host publication in LIBRIS)
To the university's database
- By the author/editor
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Walters, R G
-
Jacquemont, S
-
Valsesia, A
-
de Smith, A J
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Martinet, D
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Andersson, J
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show more...
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Falchi, M
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Chen, F
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Andrieux, J
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Lobbens, S
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Delobel, B
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Stutzmann, F
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El-Sayed Moustaf ...
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Chèvre, J-C
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Lecoeur, C
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Vatin, V
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Bouquillon, S
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Buxton, J L
-
Boute, O
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Holder-Espinasse ...
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Cuisset, J-M
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Lemaitre, M-P
-
Ambresin, A-E
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Brioschi, A
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Gaillard, M
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Giusti, V
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Fellmann, F
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Ferrarini, A
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Hadjikhani, N
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Campion, D
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Guilmatre, A
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Goldenberg, A
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Calmels, N
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Mandel, J-L
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Le Caignec, C
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David, A
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Isidor, B
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Cordier, M-P
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Dupuis-Girod, S
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Labalme, A
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Sanlaville, D
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Béri-Dexheimer, ...
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Jonveaux, P
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Leheup, B
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Ounap, K
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Bochukova, E G
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Henning, E
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Keogh, J
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Ellis, R J
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Macdermot, K D
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van Haelst, M M
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Vincent-Delorme, ...
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Plessis, G
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Touraine, R
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Philippe, A
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Malan, V
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Mathieu-Dramard, ...
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Chiesa, J
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Blaumeiser, B
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Kooy, R F
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Caiazzo, R
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Pigeyre, M
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Balkau, B
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Sladek, R
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Bergmann, S
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Mooser, V
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Waterworth, D
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Reymond, A
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Vollenweider, P
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Waeber, G
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Kurg, A
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Palta, P
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Esko, T
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Metspalu, A
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Nelis, M
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Elliott, P
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Hartikainen, A-L
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McCarthy, M I
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Peltonen, L
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Carlsson, Lena M ...
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Jacobson, Peter, ...
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Sjöström, Lars
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Huang, N
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Hurles, M E
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O'Rahilly, S
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Farooqi, I S
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Männik, K
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Jarvelin, M-R
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Pattou, F
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Meyre, D
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Walley, A J
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Coin, L J M
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Blakemore, A I F
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Froguel, P
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Beckmann, J S
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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 Basic Medicine
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and Medical Genetics
- Articles in the publication
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Nature
- By the university
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University of Gothenburg