A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Genetic link to obesity Obesity is a highly heritable disorder but the genetic associations reported to date account for only a small percentage of the inherited variation in body mass index. Two groups report deletions on chromosome16p11.2 that may explain part of the 'missing heritability...

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Vydané v:	Nature (London) Ročník 463; číslo 7281; s. 671 - 675
Hlavní autori:	Walters, R. G., Jacquemont, S., Valsesia, A., de Smith, A. J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S., Delobel, B., Stutzmann, F., El-Sayed Moustafa, J. S., Chèvre, J.-C., Lecoeur, C., Vatin, V., Bouquillon, S., Buxton, J. L., Boute, O., Holder-Espinasse, M., 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, M., Jonveaux, P., Leheup, B., Õunap, K., Bochukova, E. G., Henning, E., Keogh, J., Ellis, R. J., MacDermot, K. D., van Haelst, M. M., Vincent-Delorme, C., Plessis, G., Touraine, R., Philippe, A., Malan, V., Mathieu-Dramard, M., Chiesa, J., Blaumeiser, B., Kooy, R. F., Caiazzo, R., Pigeyre, M., Balkau, B., Sladek, R., Bergmann, S., Mooser, V., Waterworth, D., Reymond, A., Vollenweider, P., Waeber, G., Kurg, A., Palta, P., Esko, T., Metspalu, A., Nelis, M., Elliott, P., Hartikainen, A.-L., McCarthy, M. I., Peltonen, L., Carlsson, L., Jacobson, P., Sjöström, L., Huang, N., Hurles, M. E., O’Rahilly, S., Farooqi, I. S., Männik, K., Jarvelin, M.-R., Pattou, F., Meyre, D., Walley, A. J., Coin, L. J. M., Blakemore, A. I. F., Froguel, P., Beckmann, J. S.
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	London Nature Publishing Group UK 04.02.2010 Nature Publishing Group
Predmet:	631/208/2489/144 631/208/737 692/699/2743/393 Adolescent Adult Age of Onset Aging Autism Biological and medical sciences Body Mass Index Case-Control Studies Child Chromosome Deletion Chromosomes Chromosomes, Human, Pair 16 - genetics Cognition Disorders Cognition Disorders - complications Cognition Disorders - genetics Cohort Studies complications Deletion Europe Female Genetics Genome-Wide Association Study Genotype & phenotype Heterozygote Human Humanities and Social Sciences Humans Inheritance Patterns Inheritance Patterns - genetics letter Life Sciences Loci Male Medical Genetics and Genomics Medical sciences Medicinsk genetik och genomik Metabolic diseases multidisciplinary Mutation Mutation - genetics Nuclear power generation Nucleotides Obesity Obesity - complications Obesity - genetics Obesity - physiopathology Pair 16 Penetrance Penetrants physiopathology Public health Reproducibility of Results Science Science (multidisciplinary) Sex Characteristics Studies Young Adult Europe Deletion Obesity Chromosome Nutritional status Nutrition disorder
ISSN:	0028-0836, 1476-4687, 1476-4687
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Abstract	Genetic link to obesity Obesity is a highly heritable disorder but the genetic associations reported to date account for only a small percentage of the inherited variation in body mass index. Two groups report deletions on chromosome16p11.2 that may explain part of the 'missing heritability' in terms of 'high-penetrance' mutations that are rare but when present are very often associated with severe obesity. This is in contrast to more common gene defects that are less closely associated with clinical symptoms. Bochukova et al . identified rare recurrent copy number variants in 300 patients with severe early-onset obesity, caused by deletions involving several genes including SH2B1 , known to be involved in leptin and insulin signalling. Many of the patients also suffered neurodevelopmental disorders. Walters et al . identified deletions of at least 593 kilobases on chromosome 16p11.2 in 31 patients with a previously unrecognized type of extreme obesity. The strategy they used to identify the lesion — using small well-phenotyped cohorts of extreme phenotypes with targeted follow-up in genome-wide association studies and population cohorts — shows promise as a means of identifying 'missing heritability' in complex metabolic diseases more generally. Recently, numerous single nucleotide polymorphisms have been identified as being associated with obesity, but these loci together account for only a small fraction of the known heritable component. Here, an association is reported between rare deletions of at least 593 kilobases at 16p11.2 and a highly penetrant form of obesity. The strategy used of combining study of extreme phenotypes with targeted follow-up is promising for identifying missing heritability in obesity. Obesity has become a major worldwide challenge to public health, owing to an interaction between the Western ‘obesogenic’ environment and a strong genetic contribution 1 . 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 1 . Thus, the ‘common disease, common variant’ hypothesis is increasingly coming under challenge 2 . 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) ≥ 40 kg m -2 or BMI standard deviation score ≥ 4; P = 6.4 × 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’ 4 in small, well-phenotyped cohorts, with targeted follow-up in case-control and population cohorts.
AbstractList	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).40kgm super(-2) or BMI standard deviation score.4; P = 6.410 super(-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. 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).40kgm(-2) or BMI standard deviation score.4; P = 6.410(-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. 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. Genetic link to obesity Obesity is a highly heritable disorder but the genetic associations reported to date account for only a small percentage of the inherited variation in body mass index. Two groups report deletions on chromosome16p11.2 that may explain part of the 'missing heritability' in terms of 'high-penetrance' mutations that are rare but when present are very often associated with severe obesity. This is in contrast to more common gene defects that are less closely associated with clinical symptoms. Bochukova et al . identified rare recurrent copy number variants in 300 patients with severe early-onset obesity, caused by deletions involving several genes including SH2B1 , known to be involved in leptin and insulin signalling. Many of the patients also suffered neurodevelopmental disorders. Walters et al . identified deletions of at least 593 kilobases on chromosome 16p11.2 in 31 patients with a previously unrecognized type of extreme obesity. The strategy they used to identify the lesion — using small well-phenotyped cohorts of extreme phenotypes with targeted follow-up in genome-wide association studies and population cohorts — shows promise as a means of identifying 'missing heritability' in complex metabolic diseases more generally. Recently, numerous single nucleotide polymorphisms have been identified as being associated with obesity, but these loci together account for only a small fraction of the known heritable component. Here, an association is reported between rare deletions of at least 593 kilobases at 16p11.2 and a highly penetrant form of obesity. The strategy used of combining study of extreme phenotypes with targeted follow-up is promising for identifying missing heritability in obesity. Obesity has become a major worldwide challenge to public health, owing to an interaction between the Western ‘obesogenic’ environment and a strong genetic contribution 1 . 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 1 . Thus, the ‘common disease, common variant’ hypothesis is increasingly coming under challenge 2 . 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) ≥ 40 kg m -2 or BMI standard deviation score ≥ 4; P = 6.4 × 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’ 4 in small, well-phenotyped cohorts, with targeted follow-up in case-control and population cohorts. 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.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. 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) ≥ 40 kgm^sup -2^ or BMI standard deviation score ≥ 4; P = 6.4 × 10^sup -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. [PUBLICATION ABSTRACT]
Author	Lobbens, S. Coin, L. J. M. Mandel, J.-L. Jacobson, P. Dupuis-Girod, S. Blakemore, A. I. F. Vatin, V. Männik, K. Martinet, D. Bochukova, E. G. McCarthy, M. I. Cuisset, J.-M. Fellmann, F. Leheup, B. Plessis, G. Carlsson, L. Calmels, N. Isidor, B. Jarvelin, M.-R. Õunap, K. Hartikainen, A.-L. Brioschi, A. de Smith, A. J. Keogh, J. Blaumeiser, B. Chèvre, J.-C. Goldenberg, A. Ellis, R. J. Kooy, R. F. Valsesia, A. Sanlaville, D. Nelis, M. Peltonen, L. Jacquemont, S. David, A. Beckmann, J. S. Giusti, V. Pattou, F. Kurg, A. Ferrarini, A. Gaillard, M. Pigeyre, M. Waeber, G. Malan, V. Caiazzo, R. Bouquillon, S. Guilmatre, A. Palta, P. Ambresin, A.-E. Farooqi, I. S. Le Caignec, C. Metspalu, A. Reymond, A. Balkau, B. Stutzmann, F. Vollenweider, P. Lecoeur, C. Sladek, R. Falchi, M. El-Sayed Moustafa, J. S. Hadjikhani, N. Walley, A. J. Chiesa, J. Mooser, V. Boute, O. Philippe, A. Walters, R. G. Hurles, M. E. Béri-Dexheimer, M. Andrieux, J. Holder-Espinasse, M. MacDermot, K. D. Bergmann, S. Esko, T. Lemaitre, M.-P. Buxton, J. L. Mathieu-Dramard, M. Elliott, P. Cordier, M.-P. Vin
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G. surname: Bochukova fullname: Bochukova, E. G. organization: University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke’s Hospital, Cambridge CB2 0QQ, UK – sequence: 47 givenname: E. surname: Henning fullname: Henning, E. organization: University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke’s Hospital, Cambridge CB2 0QQ, UK – sequence: 48 givenname: J. surname: Keogh fullname: Keogh, J. organization: University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke’s Hospital, Cambridge CB2 0QQ, UK – sequence: 49 givenname: R. J. surname: Ellis fullname: Ellis, R. J. organization: North West Thames Regional Genetics Service, Northwick Park & St Marks Hospital, Harrow HA1 3UJ, UK – sequence: 50 givenname: K. D. surname: MacDermot fullname: MacDermot, K. D. organization: North West Thames Regional Genetics Service, Northwick Park & St Marks Hospital, Harrow HA1 3UJ, UK – sequence: 51 givenname: M. M. surname: van Haelst fullname: van Haelst, M. M. organization: North West Thames Regional Genetics Service, Northwick Park & St Marks Hospital, Harrow HA1 3UJ, UK., †Present address: Department of Medical Genetics, University Medical Centre Utrecht, 3584 EA Utrecht, The Netherlands – sequence: 52 givenname: C. surname: Vincent-Delorme fullname: Vincent-Delorme, C. organization: Centre Hospitalier D’Arras, Génétique Médicale, 62000 Arras, France – sequence: 53 givenname: G. surname: Plessis fullname: Plessis, G. organization: Service de Génétique Médicale, Centre Hospitalier Universitaire Clemenceau, 14033 Caen, France – sequence: 54 givenname: R. surname: Touraine fullname: Touraine, R. organization: Centre Hospitalier Universitaire–Hôpital Nord, Service de Génétique, 42055 Saint Étienne, France – sequence: 55 givenname: A. surname: Philippe fullname: Philippe, A. organization: Département de Génétique et INSERM U781, Université Paris Descartes, Hôpital Necker-Enfants Malades, 75015 Paris, France – sequence: 56 givenname: V. surname: Malan fullname: Malan, V. organization: Département de Génétique et INSERM U781, Université Paris Descartes, Hôpital Necker-Enfants Malades, 75015 Paris, France – sequence: 57 givenname: M. surname: Mathieu-Dramard fullname: Mathieu-Dramard, M. organization: Service de Génétique Clinique, Centre Hospitalier Universitaire, 80054 Amiens, France – sequence: 58 givenname: J. surname: Chiesa fullname: Chiesa, J. organization: Laboratoire de Cytogénétique, Centre Hospitalier Universitaire Caremeau, 30029 Nîmes, France – sequence: 59 givenname: B. surname: Blaumeiser fullname: Blaumeiser, B. organization: Department of Medical Genetics, University Hospital & University of Antwerp, 2650 Edegem, Belgium – sequence: 60 givenname: R. F. surname: Kooy fullname: Kooy, R. F. organization: Department of Medical Genetics, University Hospital & University of Antwerp, 2650 Edegem, Belgium – sequence: 61 givenname: R. surname: Caiazzo fullname: Caiazzo, R. organization: INSERM U859, Biotherapies for Diabetes, 59045 Lille, France., Université Lille Nord de France, Centre Hospitalier Universitaire Lille, 59037 Lille, France – sequence: 62 givenname: M. surname: Pigeyre fullname: Pigeyre, M. organization: Université Lille Nord de France, Centre Hospitalier Universitaire Lille, 59037 Lille, France – sequence: 63 givenname: B. surname: Balkau fullname: Balkau, B. organization: INSERM U780-IFR69, 94807 Villejuif, France – sequence: 64 givenname: R. surname: Sladek fullname: Sladek, R. organization: McGill University and Genome Quebec Innovation Centre, Montreal H3A 1A4, Canada., Department of Medicine and Human Genetics, McGill University, Montreal H3A 1B1, Canada – sequence: 65 givenname: S. surname: Bergmann fullname: Bergmann, S. organization: Departement de Génétique Médicale, Université de Lausanne, CH-1015 Lausanne, Switzerland., Swiss Institute of Bioinformatics, CH-1015 Lausanne, Switzerland – sequence: 66 givenname: V. surname: Mooser fullname: Mooser, V. organization: Division of Genetics, GlaxoSmithKline, Philadelphia, Pennsylvania 19101, USA – sequence: 67 givenname: D. surname: Waterworth fullname: Waterworth, D. organization: Division of Genetics, GlaxoSmithKline, Philadelphia, Pennsylvania 19101, USA – sequence: 68 givenname: A. surname: Reymond fullname: Reymond, A. organization: The Center for Integrative Genomics, University of Lausanne, CH-1015 Lausanne, Switzerland – sequence: 69 givenname: P. surname: Vollenweider fullname: Vollenweider, P. organization: Department of Medicine, Centre Hospitalier Universitaire Vaudois, CH-1011 Lausanne, Switzerland – sequence: 70 givenname: G. surname: Waeber fullname: Waeber, G. organization: Department of Medicine, Centre Hospitalier Universitaire Vaudois, CH-1011 Lausanne, Switzerland – sequence: 71 givenname: A. surname: Kurg fullname: Kurg, A. organization: Institute of Molecular and Cell Biology, University of Tartu, 51010 Tartu, Estonia – sequence: 72 givenname: P. surname: Palta fullname: Palta, P. organization: Institute of Molecular and Cell Biology, University of Tartu, 51010 Tartu, Estonia – sequence: 73 givenname: T. surname: Esko fullname: Esko, T. organization: Estonian Genome Project, University of Tartu, 50410 Tartu, Estonia., Estonian Biocentre, 51010 Tartu, Estonia – sequence: 74 givenname: A. surname: Metspalu fullname: Metspalu, A. organization: Estonian Genome Project, University of Tartu, 50410 Tartu, Estonia., Estonian Biocentre, 51010 Tartu, Estonia – sequence: 75 givenname: M. surname: Nelis fullname: Nelis, M. organization: Estonian Genome Project, University of Tartu, 50410 Tartu, Estonia., Estonian Biocentre, 51010 Tartu, Estonia – sequence: 76 givenname: P. surname: Elliott fullname: Elliott, P. organization: Department of Epidemiology and Public Health, Imperial College London, London W2 1PG, UK – sequence: 77 givenname: A.-L. surname: Hartikainen fullname: Hartikainen, A.-L. organization: Department of Obstetrics and Gynaecology, University of Oulu, 90220 Oulu, Finland – sequence: 78 givenname: M. I. surname: McCarthy fullname: McCarthy, M. I. organization: Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LJ, UK., Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK – sequence: 79 givenname: L. surname: Peltonen fullname: Peltonen, L. organization: Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK., Institute of Molecular Medicine, Biomedicum, 00290 Helsinki, Finland., Massachusetts Institute of Technology, The Broad Institute, Cambridge, Massachusetts 02142, USA – sequence: 80 givenname: L. surname: Carlsson fullname: Carlsson, L. organization: Department of Molecular and Clinical Medicine and Center for Cardiovascular and Metabolic Research, The Sahlgrenska Academy, 413 45 Göteborg, Sweden – sequence: 81 givenname: P. surname: Jacobson fullname: Jacobson, P. organization: Department of Molecular and Clinical Medicine and Center for Cardiovascular and Metabolic Research, The Sahlgrenska Academy, 413 45 Göteborg, Sweden – sequence: 82 givenname: L. surname: Sjöström fullname: Sjöström, L. organization: Department of Molecular and Clinical Medicine and Center for Cardiovascular and Metabolic Research, The Sahlgrenska Academy, 413 45 Göteborg, Sweden – sequence: 83 givenname: N. surname: Huang fullname: Huang, N. organization: Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK – sequence: 84 givenname: M. E. surname: Hurles fullname: Hurles, M. E. organization: Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK – sequence: 85 givenname: S. surname: O’Rahilly fullname: O’Rahilly, S. organization: University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke’s Hospital, Cambridge CB2 0QQ, UK – sequence: 86 givenname: I. S. surname: Farooqi fullname: Farooqi, I. S. organization: University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke’s Hospital, Cambridge CB2 0QQ, UK – sequence: 87 givenname: K. surname: Männik fullname: Männik, K. organization: Institute of Molecular and Cell Biology, University of Tartu, 51010 Tartu, Estonia – sequence: 88 givenname: M.-R. surname: Jarvelin fullname: Jarvelin, M.-R. organization: Department of Epidemiology and Public Health, Imperial College London, London W2 1PG, UK., Department of Child and Adolescent Health, National Public Health Institute, 90101 Oulu, Finland., Institute of Health Sciences and Biocenter Oulu, University of Oulu, 90220 Oulu, Finland – sequence: 89 givenname: F. surname: Pattou fullname: Pattou, F. organization: INSERM U859, Biotherapies for Diabetes, 59045 Lille, France., Université Lille Nord de France, Centre Hospitalier Universitaire Lille, 59037 Lille, France – sequence: 90 givenname: D. surname: Meyre fullname: Meyre, D. organization: CNRS 8090-Institute of Biology, Pasteur Institute, 59800 Lille, France – sequence: 91 givenname: A. J. surname: Walley fullname: Walley, A. J. organization: Section of Genomic Medicine, Imperial College London, London W12 0NN, UK – sequence: 92 givenname: L. J. M. surname: Coin fullname: Coin, L. J. M. organization: Department of Epidemiology and Public Health, Imperial College London, London W2 1PG, UK – sequence: 93 givenname: A. I. F. surname: Blakemore fullname: Blakemore, A. I. F. organization: Section of Genomic Medicine, Imperial College London, London W12 0NN, UK – sequence: 94 givenname: P. surname: Froguel fullname: Froguel, P. email: p.froguel@imperial.ac.uk organization: Section of Genomic Medicine, Imperial College London, London W12 0NN, UK., CNRS 8090-Institute of Biology, Pasteur Institute, 59800 Lille, France – sequence: 95 givenname: J. S. surname: Beckmann fullname: Beckmann, J. S. email: jacques.beckmann@chuv.ch organization: Service de Génétique Médicale, Centre Hospitalier Universitaire Vaudois, CH-1011 Lausanne, Switzerland., Departement de Génétique Médicale, Université de Lausanne, CH-1015 Lausanne, Switzerland
BackLink	http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=22355565$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/20130649$$D View this record in MEDLINE/PubMed https://hal.science/hal-04064255$$DView record in HAL https://gup.ub.gu.se/publication/119014$$DView record from Swedish Publication Index (Göteborgs universitet)
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Snippet	Genetic link to obesity Obesity is a highly heritable disorder but the genetic associations reported to date account for only a small percentage of the... Obesity has become a major worldwide challenge to public health, owing to an interaction between the Western 'obesogenic' environment and a strong genetic...
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SubjectTerms	631/208/2489/144 631/208/737 692/699/2743/393 Adolescent Adult Age of Onset Aging Autism Biological and medical sciences Body Mass Index Case-Control Studies Child Chromosome Deletion Chromosomes Chromosomes, Human, Pair 16 - genetics Cognition Disorders Cognition Disorders - complications Cognition Disorders - genetics Cohort Studies complications Deletion Europe Female Genetics Genome-Wide Association Study Genotype & phenotype Heterozygote Human Humanities and Social Sciences Humans Inheritance Patterns Inheritance Patterns - genetics letter Life Sciences Loci Male Medical Genetics and Genomics Medical sciences Medicinsk genetik och genomik Metabolic diseases multidisciplinary Mutation Mutation - genetics Nuclear power generation Nucleotides Obesity Obesity - complications Obesity - genetics Obesity - physiopathology Pair 16 Penetrance Penetrants physiopathology Public health Reproducibility of Results Science Science (multidisciplinary) Sex Characteristics Studies Young Adult
Title	A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
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