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1.	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.
2.	Stolk, Lisette, et al. (author) Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways 2012 In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:3, s. 260-268 Journal article (peer-reviewed)abstract To newly identify loci for age at natural menopause, we carried out a meta-analysis of 22 genome-wide association studies (GWAS) in 38,968 women of European descent, with replication in up to 14,435 women. In addition to four known loci, we identified 13 loci newly associated with age at natural menopause (at P < 5 × 10(-8)). Candidate genes located at these newly associated loci include genes implicated in DNA repair (EXO1, HELQ, UIMC1, FAM175A, FANCI, TLK1, POLG and PRIM1) and immune function (IL11, NLRP11 and PRRC2A (also known as BAT2)). Gene-set enrichment pathway analyses using the full GWAS data set identified exoDNase, NF-κB signaling and mitochondrial dysfunction as biological processes related to timing of menopause.

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Type of publication: journal article (2)

Type of content: peer-reviewed (2)

Author/Editor: Chanock, Stephen J (2); Campbell, Harry (2); Rudan, Igor (2); Hall, Per (2); Ridker, Paul M. (2); Chasman, Daniel I. (2); show more...; van Duijn, Cornelia ... (2); Magnusson, Patrik K ... (2); Pedersen, Nancy L (2); Hunter, David J (2); Thorsteinsdottir, Un ... (2); Stefansson, Kari (2); Albrecht, Eva (2); Mangino, Massimo (2); Willemsen, Gonneke (2); Oostra, Ben A. (2); Gieger, Christian (2); Wichmann, H. Erich (2); Nyholt, Dale R. (2); Martin, Nicholas G. (2); Spector, Tim D. (2); de Faire, Ulf (2); Metspalu, Andres (2); Wright, Alan F. (2); Wilson, James F. (2); Eriksson, Johan G. (2); Montgomery, Grant W. (2); Zillikens, M. Carola (2); Thorand, Barbara (2); Harris, Tamara B (2); Hofman, Albert (2); Uitterlinden, André ... (2); Hayward, Caroline (2); Gudnason, Vilmundur (2); McKnight, Barbara (2); Stolk, Ronald P. (2); Boerwinkle, Eric (2); Hottenga, Jouke-Jan (2); Schlessinger, David (2); Medland, Sarah E (2); Murabito, Joanne M (2); Esko, Tõnu (2); Visscher, Peter M. (2); Smith, Jennifer A (2); Bandinelli, Stefania (2); Ferrucci, Luigi (2); Fischer, Krista (2); Heath, Andrew C. (2); Sanna, Serena (2); Stirrups, Kathleen (2); show less...

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

Language: English (2)

Research subject (UKÄ/SCB): Medical and Health Sciences (1)

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