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1.	Berndt, Sonja I., et al. (author) Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture 2013 In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:5, s. 501-U69 Journal article (peer-reviewed)abstract Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.
2.	Locke, Adam E, et al. (author) Genetic studies of body mass index yield new insights for obesity biology. 2015 In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 197-401 Journal article (peer-reviewed)abstract Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.

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Type of publication: journal article (2)

Type of content: peer-reviewed (2)

Author/Editor: Groop, Leif (2); Vandenput, Liesbeth, ... (2); Salomaa, Veikko (2); Perola, Markus (2); Lind, Lars (2); Kuh, Diana (2); show more...; Berndt, Sonja I (2); Chanock, Stephen J (2); Campbell, Harry (2); Rudan, Igor (2); Ohlsson, Claes, 1965 (2); Strachan, David P (2); Deloukas, Panos (2); Shungin, Dmitry (2); North, Kari E. (2); Wareham, Nicholas J. (2); Hall, Per (2); Johansson, Åsa (2); Stancáková, Alena (2); Kuusisto, Johanna (2); Laakso, Markku (2); McCarthy, Mark I (2); Tregouet, David Alex ... (2); Ridker, Paul M. (2); Chasman, Daniel I. (2); Amin, Najaf (2); van Duijn, Cornelia ... (2); Rose, Lynda M (2); Langenberg, Claudia (2); Boehnke, Michael (2); Hamsten, Anders (2); Mohlke, Karen L (2); Qi, Lu (2); Virtamo, Jarmo (2); Tuomilehto, Jaakko (2); Thorleifsson, Gudmar (2); Thorsteinsdottir, Un ... (2); Stefansson, Kari (2); Abecasis, Goncalo R. (2); Albrecht, Eva (2); Mangino, Massimo (2); Willemsen, Gonneke (2); Oostra, Ben A. (2); Gieger, Christian (2); Peters, Annette (2); Wichmann, H. Erich (2); Martin, Nicholas G. (2); Samani, Nilesh J. (2); Jarvelin, Marjo-Riit ... (2); de Faire, Ulf (2); show less...

University: University of Gothenburg (2); Umeå University (2); Uppsala University (2)Undo refine; Lund University (2); Karolinska Institutet (2); Högskolan Dalarna (1)

Language: English (2)

Research subject (UKÄ/SCB): Medical and Health Sciences (2); Natural sciences (1)

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