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Your search keyword '"Gjesing, Anette P."' showing total 3 results
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3 results on '"Gjesing, Anette P."'

1. A saturated map of common genetic variants associated with human height

Author

Yengo, Loïc, Vedantam, Sailaja, Marouli, Eirini, Sidorenko, Julia, Bartell, Eric, Sakaue, Saori, Graff, Marielisa, Eliasen, Anders U, Jiang, Yunxuan, Raghavan, Sridharan, Miao, Jenkai, Arias, Joshua D, Graham, Sarah E, Mukamel, Ronen E, Spracklen, Cassandra N, Yin, Xianyong, Chen, Shyh-Huei, Ferreira, Teresa, Highland, Heather H, Ji, Yingjie, Karaderi, Tugce, Lin, Kuang, Lüll, Kreete, Malden, Deborah E, Medina-Gomez, Carolina, Machado, Moara, Moore, Amy, Rüeger, Sina, Sim, Xueling, Vrieze, Scott, Ahluwalia, Tarunveer S, Akiyama, Masato, Allison, Matthew A, Alvarez, Marcus, Andersen, Mette K, Ani, Alireza, Appadurai, Vivek, Arbeeva, Liubov, Bhaskar, Seema, Bielak, Lawrence F, Bollepalli, Sailalitha, Bonnycastle, Lori L, Bork-Jensen, Jette, Bradfield, Jonathan P, Bradford, Yuki, Braund, Peter S, Brody, Jennifer A, Burgdorf, Kristoffer S, Cade, Brian E, Cai, Hui, Cai, Qiuyin, Campbell, Archie, Cañadas-Garre, Marisa, Catamo, Eulalia, Chai, Jin-Fang, Chai, Xiaoran, Chang, Li-Ching, Chang, Yi-Cheng, Chen, Chien-Hsiun, Chesi, Alessandra, Choi, Seung Hoan, Chung, Ren-Hua, Cocca, Massimiliano, Concas, Maria Pina, Couture, Christian, Cuellar-Partida, Gabriel, Danning, Rebecca, Daw, E Warwick, Degenhard, Frauke, Delgado, Graciela E, Delitala, Alessandro, Demirkan, Ayse, Deng, Xuan, Devineni, Poornima, Dietl, Alexander, Dimitriou, Maria, Dimitrov, Latchezar, Dorajoo, Rajkumar, Ekici, Arif B, Engmann, Jorgen E, Fairhurst-Hunter, Zammy, Farmaki, Aliki-Eleni, Faul, Jessica D, Fernandez-Lopez, Juan-Carlos, Forer, Lukas, Francescatto, Margherita, Freitag-Wolf, Sandra, Fuchsberger, Christian, Galesloot, Tessel E, Gao, Yan, Gao, Zishan, Geller, Frank, Giannakopoulou, Olga, Giulianini, Franco, Gjesing, Anette P, Goel, Anuj, Gordon, Scott D, Gorski, Mathias, Grove, Jakob, and Guo, Xiuqing

Subjects
Epidemiology, Biological Sciences, Health Sciences, Genetics, Human Genome, Humans, Body Height, Gene Frequency, Genome, Human, Genome-Wide Association Study, Haplotypes, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Europe, Sample Size, Phenotype, Chromosome Mapping, 23andMe Research Team, VA Million Veteran Program, DiscovEHR, eMERGE, Lifelines Cohort Study, PRACTICAL Consortium, Understanding Society Scientific Group, General Science & Technology
Abstract

Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40-50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes1. Here, using data from a genome-wide association study of 5.4 million individuals of diverse ancestries, we show that 12,111 independent SNPs that are significantly associated with height account for nearly all of the common SNP-based heritability. These SNPs are clustered within 7,209 non-overlapping genomic segments with a mean size of around 90 kb, covering about 21% of the genome. The density of independent associations varies across the genome and the regions of increased density are enriched for biologically relevant genes. In out-of-sample estimation and prediction, the 12,111 SNPs (or all SNPs in the HapMap 3 panel2) account for 40% (45%) of phenotypic variance in populations of European ancestry but only around 10-20% (14-24%) in populations of other ancestries. Effect sizes, associated regions and gene prioritization are similar across ancestries, indicating that reduced prediction accuracy is likely to be explained by linkage disequilibrium and differences in allele frequency within associated regions. Finally, we show that the relevant biological pathways are detectable with smaller sample sizes than are needed to implicate causal genes and variants. Overall, this study provides a comprehensive map of specific genomic regions that contain the vast majority of common height-associated variants. Although this map is saturated for populations of European ancestry, further research is needed to achieve equivalent saturation in other ancestries.

Published
2022

2. A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes

Author

Moltke, Ida, Grarup, Niels, Jørgensen, Marit E, Bjerregaard, Peter, Treebak, Jonas T, Fumagalli, Matteo, Korneliussen, Thorfinn S, Andersen, Marianne A, Nielsen, Thomas S, Krarup, Nikolaj T, Gjesing, Anette P, Zierath, Juleen R, Linneberg, Allan, Wu, Xueli, Sun, Guangqing, Jin, Xin, Al-Aama, Jumana, Wang, Jun, Borch-Johnsen, Knut, Pedersen, Oluf, Nielsen, Rasmus, Albrechtsen, Anders, and Hansen, Torben

Subjects
Biological Sciences, Genetics, Human Genome, Diabetes, 2.1 Biological and endogenous factors, Aetiology, Metabolic and endocrine, Adult, Blood Glucose, Codon, Nonsense, Diabetes Mellitus, Type 2, GTPase-Activating Proteins, Gene Frequency, Genetic Variation, Genome-Wide Association Study, Genotype, Greenland, Humans, Insulin, Insulin Resistance, Middle Aged, Muscle, Skeletal, General Science & Technology
Abstract

The Greenlandic population, a small and historically isolated founder population comprising about 57,000 inhabitants, has experienced a dramatic increase in type 2 diabetes (T2D) prevalence during the past 25 years. Motivated by this, we performed association mapping of T2D-related quantitative traits in up to 2,575 Greenlandic individuals without known diabetes. Using array-based genotyping and exome sequencing, we discovered a nonsense p.Arg684Ter variant (in which arginine is replaced by a termination codon) in the gene TBC1D4 with an allele frequency of 17%. Here we show that homozygous carriers of this variant have markedly higher concentrations of plasma glucose (β = 3.8 mmol l(-1), P = 2.5 × 10(-35)) and serum insulin (β = 165 pmol l(-1), P = 1.5 × 10(-20)) 2 hours after an oral glucose load compared with individuals with other genotypes (both non-carriers and heterozygous carriers). Furthermore, homozygous carriers have marginally lower concentrations of fasting plasma glucose (β = -0.18 mmol l(-1), P = 1.1 × 10(-6)) and fasting serum insulin (β = -8.3 pmol l(-1), P = 0.0014), and their T2D risk is markedly increased (odds ratio (OR) = 10.3, P = 1.6 × 10(-24)). Heterozygous carriers have a moderately higher plasma glucose concentration 2 hours after an oral glucose load than non-carriers (β = 0.43 mmol l(-1), P = 5.3 × 10(-5)). Analyses of skeletal muscle biopsies showed lower messenger RNA and protein levels of the long isoform of TBC1D4, and lower muscle protein levels of the glucose transporter GLUT4, with increasing number of p.Arg684Ter alleles. These findings are concomitant with a severely decreased insulin-stimulated glucose uptake in muscle, leading to postprandial hyperglycaemia, impaired glucose tolerance and T2D. The observed effect sizes are several times larger than any previous findings in large-scale genome-wide association studies of these traits and constitute further proof of the value of conducting genetic association studies outside the traditional setting of large homogeneous populations.

Published
2014

3. The genetic architecture of type 2 diabetes

Author

Fuchsberger, Christian, primary, Flannick, Jason, additional, Teslovich, Tanya M., additional, Mahajan, Anubha, additional, Agarwala, Vineeta, additional, Gaulton, Kyle J., additional, Ma, Clement, additional, Fontanillas, Pierre, additional, Moutsianas, Loukas, additional, McCarthy, Davis J., additional, Rivas, Manuel A., additional, Perry, John R. B., additional, Sim, Xueling, additional, Blackwell, Thomas W., additional, Robertson, Neil R., additional, Rayner, N. William, additional, Cingolani, Pablo, additional, Locke, Adam E., additional, Tajes, Juan Fernandez, additional, Highland, Heather M., additional, Dupuis, Josee, additional, Chines, Peter S., additional, Lindgren, Cecilia M., additional, Hartl, Christopher, additional, Jackson, Anne U., additional, Chen, Han, additional, Huyghe, Jeroen R., additional, van de Bunt, Martijn, additional, Pearson, Richard D., additional, Kumar, Ashish, additional, Müller-Nurasyid, Martina, additional, Grarup, Niels, additional, Stringham, Heather M., additional, Gamazon, Eric R., additional, Lee, Jaehoon, additional, Chen, Yuhui, additional, Scott, Robert A., additional, Below, Jennifer E., additional, Chen, Peng, additional, Huang, Jinyan, additional, Go, Min Jin, additional, Stitzel, Michael L., additional, Pasko, Dorota, additional, Parker, Stephen C. J., additional, Varga, Tibor V., additional, Green, Todd, additional, Beer, Nicola L., additional, Day-Williams, Aaron G., additional, Ferreira, Teresa, additional, Fingerlin, Tasha, additional, Horikoshi, Momoko, additional, Hu, Cheng, additional, Huh, Iksoo, additional, Ikram, Mohammad Kamran, additional, Kim, Bong-Jo, additional, Kim, Yongkang, additional, Kim, Young Jin, additional, Kwon, Min-Seok, additional, Lee, Juyoung, additional, Lee, Selyeong, additional, Lin, Keng-Han, additional, Maxwell, Taylor J., additional, Nagai, Yoshihiko, additional, Wang, Xu, additional, Welch, Ryan P., additional, Yoon, Joon, additional, Zhang, Weihua, additional, Barzilai, Nir, additional, Voight, Benjamin F., additional, Han, Bok-Ghee, additional, Jenkinson, Christopher P., additional, Kuulasmaa, Teemu, additional, Kuusisto, Johanna, additional, Manning, Alisa, additional, Ng, Maggie C. Y., additional, Palmer, Nicholette D., additional, Balkau, Beverley, additional, Stančáková, Alena, additional, Abboud, Hanna E., additional, Boeing, Heiner, additional, Giedraitis, Vilmantas, additional, Prabhakaran, Dorairaj, additional, Gottesman, Omri, additional, Scott, James, additional, Carey, Jason, additional, Kwan, Phoenix, additional, Grant, George, additional, Smith, Joshua D., additional, Neale, Benjamin M., additional, Purcell, Shaun, additional, Butterworth, Adam S., additional, Howson, Joanna M. M., additional, Lee, Heung Man, additional, Lu, Yingchang, additional, Kwak, Soo-Heon, additional, Zhao, Wei, additional, Danesh, John, additional, Lam, Vincent K. L., additional, Park, Kyong Soo, additional, Saleheen, Danish, additional, So, Wing Yee, additional, Tam, Claudia H. T., additional, Afzal, Uzma, additional, Aguilar, David, additional, Arya, Rector, additional, Aung, Tin, additional, Chan, Edmund, additional, Navarro, Carmen, additional, Cheng, Ching-Yu, additional, Palli, Domenico, additional, Correa, Adolfo, additional, Curran, Joanne E., additional, Rybin, Denis, additional, Farook, Vidya S., additional, Fowler, Sharon P., additional, Freedman, Barry I., additional, Griswold, Michael, additional, Hale, Daniel Esten, additional, Hicks, Pamela J., additional, Khor, Chiea-Chuen, additional, Kumar, Satish, additional, Lehne, Benjamin, additional, Thuillier, Dorothée, additional, Lim, Wei Yen, additional, Liu, Jianjun, additional, van der Schouw, Yvonne T., additional, Loh, Marie, additional, Musani, Solomon K., additional, Puppala, Sobha, additional, Scott, William R., additional, Yengo, Loïc, additional, Tan, Sian-Tsung, additional, Taylor, Herman A., additional, Thameem, Farook, additional, Wilson, Gregory, additional, Wong, Tien Yin, additional, Njølstad, Pål Rasmus, additional, Levy, Jonathan C., additional, Mangino, Massimo, additional, Bonnycastle, Lori L., additional, Schwarzmayr, Thomas, additional, Fadista, João, additional, Surdulescu, Gabriela L., additional, Herder, Christian, additional, Groves, Christopher J., additional, Wieland, Thomas, additional, Bork-Jensen, Jette, additional, Brandslund, Ivan, additional, Christensen, Cramer, additional, Koistinen, Heikki A., additional, Doney, Alex S. F., additional, Kinnunen, Leena, additional, Esko, Tõnu, additional, Farmer, Andrew J., additional, Hakaste, Liisa, additional, Hodgkiss, Dylan, additional, Kravic, Jasmina, additional, Lyssenko, Valeriya, additional, Hollensted, Mette, additional, Jørgensen, Marit E., additional, Jørgensen, Torben, additional, Ladenvall, Claes, additional, Justesen, Johanne Marie, additional, Käräjämäki, Annemari, additional, Kriebel, Jennifer, additional, Rathmann, Wolfgang, additional, Lannfelt, Lars, additional, Lauritzen, Torsten, additional, Narisu, Narisu, additional, Linneberg, Allan, additional, Melander, Olle, additional, Milani, Lili, additional, Neville, Matt, additional, Orho-Melander, Marju, additional, Qi, Lu, additional, Qi, Qibin, additional, Roden, Michael, additional, Rolandsson, Olov, additional, Swift, Amy, additional, Rosengren, Anders H., additional, Stirrups, Kathleen, additional, Wood, Andrew R., additional, Mihailov, Evelin, additional, Blancher, Christine, additional, Carneiro, Mauricio O., additional, Maguire, Jared, additional, Poplin, Ryan, additional, Shakir, Khalid, additional, Fennell, Timothy, additional, DePristo, Mark, additional, Hrabé de Angelis, Martin, additional, Deloukas, Panos, additional, Gjesing, Anette P., additional, Jun, Goo, additional, Nilsson, Peter, additional, Murphy, Jacquelyn, additional, Onofrio, Robert, additional, Thorand, Barbara, additional, Hansen, Torben, additional, Meisinger, Christa, additional, Hu, Frank B., additional, Isomaa, Bo, additional, Karpe, Fredrik, additional, Liang, Liming, additional, Peters, Annette, additional, Huth, Cornelia, additional, O’Rahilly, Stephen P., additional, Palmer, Colin N. A., additional, Pedersen, Oluf, additional, Rauramaa, Rainer, additional, Tuomilehto, Jaakko, additional, Salomaa, Veikko, additional, Watanabe, Richard M., additional, Syvänen, Ann-Christine, additional, Bergman, Richard N., additional, Bharadwaj, Dwaipayan, additional, Bottinger, Erwin P., additional, Cho, Yoon Shin, additional, Chandak, Giriraj R., additional, Chan, Juliana C. N., additional, Chia, Kee Seng, additional, Daly, Mark J., additional, Ebrahim, Shah B., additional, Langenberg, Claudia, additional, Elliott, Paul, additional, Jablonski, Kathleen A., additional, Lehman, Donna M., additional, Jia, Weiping, additional, Ma, Ronald C. W., additional, Pollin, Toni I., additional, Sandhu, Manjinder, additional, Tandon, Nikhil, additional, Froguel, Philippe, additional, Barroso, Inês, additional, Teo, Yik Ying, additional, Zeggini, Eleftheria, additional, Loos, Ruth J. F., additional, Small, Kerrin S., additional, Ried, Janina S., additional, DeFronzo, Ralph A., additional, Grallert, Harald, additional, Glaser, Benjamin, additional, Metspalu, Andres, additional, Wareham, Nicholas J., additional, Walker, Mark, additional, Banks, Eric, additional, Gieger, Christian, additional, Ingelsson, Erik, additional, Im, Hae Kyung, additional, Illig, Thomas, additional, Franks, Paul W., additional, Buck, Gemma, additional, Trakalo, Joseph, additional, Buck, David, additional, Prokopenko, Inga, additional, Mägi, Reedik, additional, Lind, Lars, additional, Farjoun, Yossi, additional, Owen, Katharine R., additional, Gloyn, Anna L., additional, Strauch, Konstantin, additional, Tuomi, Tiinamaija, additional, Kooner, Jaspal Singh, additional, Lee, Jong-Young, additional, Park, Taesung, additional, Donnelly, Peter, additional, Morris, Andrew D., additional, Hattersley, Andrew T., additional, Bowden, Donald W., additional, Collins, Francis S., additional, Atzmon, Gil, additional, Chambers, John C., additional, Spector, Timothy D., additional, Laakso, Markku, additional, Strom, Tim M., additional, Bell, Graeme I., additional, Blangero, John, additional, Duggirala, Ravindranath, additional, Tai, E. Shyong, additional, McVean, Gilean, additional, Hanis, Craig L., additional, Wilson, James G., additional, Seielstad, Mark, additional, Frayling, Timothy M., additional, Meigs, James B., additional, Cox, Nancy J., additional, Sladek, Rob, additional, Lander, Eric S., additional, Gabriel, Stacey, additional, Burtt, Noël P., additional, Mohlke, Karen L., additional, Meitinger, Thomas, additional, Groop, Leif, additional, Abecasis, Goncalo, additional, Florez, Jose C., additional, Scott, Laura J., additional, Morris, Andrew P., additional, Kang, Hyun Min, additional, Boehnke, Michael, additional, Altshuler, David, additional, and McCarthy, Mark I., additional

Published
2016
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