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

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Walters, R G (author)

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

Article/chapterEnglish2010

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Springer Science and Business Media LLC,2010

Numbers

LIBRIS-ID:oai:gup.ub.gu.se/119014
https://gup.ub.gu.se/publication/119014URI
https://doi.org/10.1038/nature08727DOI

Supplementary language notes

Language:English

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SwePubSwePub

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

Notes

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 and genre

MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper Medicinsk genetik hsv//swe
MEDICAL AND HEALTH SCIENCES Basic Medicine Medical Genetics hsv//eng
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

Added entries (persons, corporate bodies, meetings, titles ...)

Jacquemont, S (author)
Valsesia, A (author)
de Smith, A J (author)
Martinet, D (author)
Andersson, J (author)
Falchi, M (author)
Chen, F (author)
Andrieux, J (author)
Lobbens, S (author)
Delobel, B (author)
Stutzmann, F (author)
El-Sayed Moustafa, J S (author)
Chèvre, J-C (author)
Lecoeur, C (author)
Vatin, V (author)
Bouquillon, S (author)
Buxton, J L (author)
Boute, O (author)
Holder-Espinasse, M (author)
Cuisset, J-M (author)
Lemaitre, M-P (author)
Ambresin, A-E (author)
Brioschi, A (author)
Gaillard, M (author)
Giusti, V (author)
Fellmann, F (author)
Ferrarini, A (author)
Hadjikhani, N (author)
Campion, D (author)
Guilmatre, A (author)
Goldenberg, A (author)
Calmels, N (author)
Mandel, J-L (author)
Le Caignec, C (author)
David, A (author)
Isidor, B (author)
Cordier, M-P (author)
Dupuis-Girod, S (author)
Labalme, A (author)
Sanlaville, D (author)
Béri-Dexheimer, M (author)
Jonveaux, P (author)
Leheup, B (author)
Ounap, K (author)
Bochukova, E G (author)
Henning, E (author)
Keogh, J (author)
Ellis, R J (author)
Macdermot, K D (author)
van Haelst, M M (author)
Vincent-Delorme, C (author)
Plessis, G (author)
Touraine, R (author)
Philippe, A (author)
Malan, V (author)
Mathieu-Dramard, M (author)
Chiesa, J (author)
Blaumeiser, B (author)
Kooy, R F (author)
Caiazzo, R (author)
Pigeyre, M (author)
Balkau, B (author)
Sladek, R (author)
Bergmann, S (author)
Mooser, V (author)
Waterworth, D (author)
Reymond, A (author)
Vollenweider, P (author)
Waeber, G (author)
Kurg, A (author)
Palta, P (author)
Esko, T (author)
Metspalu, A (author)
Nelis, M (author)
Elliott, P (author)
Hartikainen, A-L (author)
McCarthy, M I (author)
Peltonen, L (author)
Carlsson, Lena M S,1957Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine(Swepub:gu)xcarle (author)
Jacobson, Peter,1962Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine(Swepub:gu)xjacop (author)
Sjöström, LarsGothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine(Swepub:gu)xsjosl (author)
Huang, N (author)
Hurles, M E (author)
O'Rahilly, S (author)
Farooqi, I S (author)
Männik, K (author)
Jarvelin, M-R (author)
Pattou, F (author)
Meyre, D (author)
Walley, A J (author)
Coin, L J M (author)
Blakemore, A I F (author)
Froguel, P (author)
Beckmann, J S (author)
Göteborgs universitetInstitutionen för medicin, avdelningen för molekylär och klinisk medicin (creator_code:org_t)

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In:Nature: Springer Science and Business Media LLC463:7281, s. 671-51476-46870028-0836

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By the author/editor: Walters, R G; Jacquemont, S; Valsesia, A; de Smith, A J; Martinet, D; Andersson, J; show more...; Falchi, M; Chen, F; Andrieux, J; Lobbens, S; Delobel, B; Stutzmann, F; El-Sayed Moustaf ...; Chèvre, J-C; Lecoeur, C; Vatin, V; Bouquillon, S; Buxton, J L; Boute, O; Holder-Espinasse ...; 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, ...; Jonveaux, P; Leheup, B; Ounap, K; Bochukova, E G; Henning, E; Keogh, J; Ellis, R J; Macdermot, K D; van Haelst, M M; Vincent-Delorme, ...; Plessis, G; Touraine, R; Philippe, A; Malan, V; Mathieu-Dramard, ...; 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, Lena M ...; Jacobson, Peter, ...; Sjöström, Lars; 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; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

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By the university: University of Gothenburg

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