Author: "Sigurdsson, Jon K" - Searchworks@Jio Institute Digital Library Search Results

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39 results on '"Sigurdsson, Jon K"'

1. Distinction between the effects of parental and fetal genomes on fetal growth

Author: Juliusdottir, Thorhildur, Steinthorsdottir, Valgerdur, Stefansdottir, Lilja, Sveinbjornsson, Gardar, Ivarsdottir, Erna V., Thorolfsdottir, Rosa B., Sigurdsson, Jon K., Tragante, Vinicius, Hjorleifsson, Kristjan E., Helgadottir, Anna, Frigge, Michael L., Thorgeirsson, Gudmundur, Benediktsson, Rafn, Sigurdsson, Emil L., Arnar, David O., Steingrimsdottir, Thora, Jonsdottir, Ingileif, Holm, Hilma, Gudbjartsson, Daniel F., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, and Stefansson, Kari
Published: 2021
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2. Genetic variants associated with platelet count are predictive of human disease and physiological markers

Author: Mikaelsdottir, Evgenia, Thorleifsson, Gudmar, Stefansdottir, Lilja, Halldorsson, Gisli, Sigurdsson, Jon K., Lund, Sigrun H., Tragante, Vinicius, Melsted, Pall, Rognvaldsson, Solvi, Norland, Kristjan, Helgadottir, Anna, Magnusson, Magnus K., Ragnarsson, Gunnar B., Kristinsson, Sigurdur Y., Reykdal, Sigrun, Vidarsson, Brynjar, Gudmundsdottir, Ingibjorg J., Olafsson, Isleifur, Onundarson, Pall T., Sigurdardottir, Olof, Sigurdsson, Emil L., Grondal, Gerdur, Geirsson, Arni J., Geirsson, Gudmundur, Gudmundsson, Julius, Holm, Hilma, Saevarsdottir, Saedis, Jonsdottir, Ingileif, Thorgeirsson, Gudmundur, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Rafnar, Thorunn, and Stefansson, Kari
Published: 2021
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3. FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease

Author: Saevarsdottir, Saedis, Olafsdottir, Thorunn A., Ivarsdottir, Erna V., Halldorsson, Gisli H., Gunnarsdottir, Kristbjorg, Sigurdsson, Asgeir, Johannesson, Ari, Sigurdsson, Jon K., Juliusdottir, Thorhildur, Lund, Sigrun H., Arnthorsson, Asgeir O., Styrmisdottir, Edda L., Gudmundsson, Julius, Grondal, Gerdur M., Steinsson, Kristjan, Alfredsson, Lars, Askling, Johan, Benediktsson, Rafn, Bjarnason, Ragnar, Geirsson, Arni J., Gudbjornsson, Bjorn, Gudjonsson, Hallgrimur, Hjaltason, Haukur, Hreidarsson, Astradur B., Klareskog, Lars, Kockum, Ingrid, Kristjansdottir, Helga, Love, Thorvardur J., Ludviksson, Bjorn R., Olsson, Tomas, Onundarson, Pall T., Orvar, Kjartan B., Padyukov, Leonid, Sigurgeirsson, Bardur, Tragante, Vinicius, Bjarnadottir, Kristbjorg, Rafnar, Thorunn, Masson, Gisli, Sulem, Patrick, Gudbjartsson, Daniel F., Melsted, Pall, Thorleifsson, Gudmar, Norddahl, Gudmundur L., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, and Stefansson, Kari
Published: 2020
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4. Shape matters in protein mobility within membranes

Author: Quemeneur, François, Sigurdsson, Jon K, Renner, Marianne, Atzberger, Paul J, Bassereau, Patricia, and Lacoste, David
Subjects: Aquaporins, Cell Shape, Eye Proteins, Lipid Bilayers, Membrane Proteins, Potassium Channels, Voltage-Gated, Protein Transport, Brownian motion, Saffman-Delbruck, internal membrane structure, drag force, micropipette aspiration, Saffman–Delbrück
Abstract: The lateral mobility of proteins within cell membranes is usually thought to be dependent on their size and modulated by local heterogeneities of the membrane. Experiments using single-particle tracking on reconstituted membranes demonstrate that protein diffusion is significantly influenced by the interplay of membrane curvature, membrane tension, and protein shape. We find that the curvature-coupled voltage-gated potassium channel (KvAP) undergoes a significant increase in protein mobility under tension, whereas the mobility of the curvature-neutral water channel aquaporin 0 (AQP0) is insensitive to it. Such observations are well explained in terms of an effective friction coefficient of the protein induced by the local membrane deformation.
Published: 2014

5. A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis

Author: Kristjansson, Ragnar P., Benonisdottir, Stefania, Davidsson, Olafur B., Oddsson, Asmundur, Tragante, Vinicius, Sigurdsson, Jon K., Stefansdottir, Lilja, Jonsson, Stefan, Jensson, Brynjar O., Arthur, Joseph G., Arnadottir, Gudny A., Sulem, Gerald, Halldorsson, Bjarni V., Gunnarsson, Bjarni, Halldorsson, Gisli H., Stefansson, Olafur A., Oskarsson, Gudjon R., Deaton, Aimee M., Olafsson, Isleifur, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Onundarson, Pall T., Gislason, David, Gislason, Thorarinn, Ludviksson, Bjorn R., Ludviksdottir, Dora, Olafsdottir, Thorunn A., Rafnar, Thorunn, Masson, Gisli, Zink, Florian, Bjornsdottir, Gyda, Magnusson, Olafur Th., Bjornsdottir, Unnur S., Thorleifsson, Gudmar, Norddahl, Gudmundur L., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Sulem, Patrick, and Stefansson, Kari
Published: 2019
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6. Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis

Author: Styrkarsdottir, Unnur, Lund, Sigrun H., Thorleifsson, Gudmar, Zink, Florian, Stefansson, Olafur A., Sigurdsson, Jon K., Juliusson, Kristinn, Bjarnadottir, Kristbjörg, Sigurbjornsdottir, Sara, Jonsson, Stefan, Norland, Kristjan, Stefansdottir, Lilja, Sigurdsson, Asgeir, Sveinbjornsson, Gardar, Oddsson, Asmundur, Bjornsdottir, Gyda, Gudmundsson, Reynir L., Halldorsson, Gisli H., Rafnar, Thorunn, Jonsdottir, Ingileif, Steingrimsson, Eirikur, Norddahl, Gudmundur L., Masson, Gisli, Sulem, Patrick, Jonsson, Helgi, Ingvarsson, Thorvaldur, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, and Stefansson, Kari
Published: 2018
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7. Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

Author: Oskarsson, Gudjon R., Oddsson, Asmundur, Magnusson, Magnus K., Kristjansson, Ragnar P., Halldorsson, Gisli H., Ferkingstad, Egil, Zink, Florian, Helgadottir, Anna, Ivarsdottir, Erna V., Arnadottir, Gudny A., Jensson, Brynjar O., Katrinardottir, Hildigunnur, Sveinbjornsson, Gardar, Kristinsdottir, Anna M., Lee, Amy L., Saemundsdottir, Jona, Stefansdottir, Lilja, Sigurdsson, Jon K., Davidsson, Olafur B., Benonisdottir, Stefania, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Jonsson, Stefan, Gudmundsson, Reynir L., Asselbergs, Folkert W., Tragante, Vinicius, Gunnarsson, Bjarni, Masson, Gisli, Thorleifsson, Gudmar, Rafnar, Thorunn, Holm, Hilma, Olafsson, Isleifur, Onundarson, Pall T., Gudbjartsson, Daniel F., Norddahl, Gudmundur L., Thorsteinsdottir, Unnur, Sulem, Patrick, and Stefansson, Kari
Published: 2020
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8. Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank

Author: Olafsdottir, Thorhildur, Thorleifsson, Gudmar, Sulem, Patrick, Stefansson, Olafur A., Medek, Helga, Olafsson, Karl, Ingthorsson, Orri, Gudmundsson, Valur, Jonsdottir, Ingileif, Halldorsson, Gisli H., Kristjansson, Ragnar P., Frigge, Michael L., Stefansdottir, Lilja, Sigurdsson, Jon K., Oddsson, Asmundur, Sigurdsson, Asgeir, Eggertsson, Hannes P., Melsted, Pall, Halldorsson, Bjarni V., Lund, Sigrun H., Styrkarsdottir, Unnur, Steinthorsdottir, Valgerdur, Gudmundsson, Julius, Holm, Hilma, Tragante, Vinicius, Asselbergs, Folkert W., Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Jonsdottir, Kristin, Rafnar, Thorunn, and Stefansson, Kari
Published: 2020
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9. Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis

Author: Olafsdottir, Thorunn A., Theodors, Fannar, Bjarnadottir, Kristbjorg, Bjornsdottir, Unnur Steina, Agustsdottir, Arna B., Stefansson, Olafur A., Ivarsdottir, Erna V., Sigurdsson, Jon K., Benonisdottir, Stefania, Eyjolfsson, Gudmundur I., Gislason, David, Gislason, Thorarinn, Guðmundsdóttir, Steinunn, Gylfason, Arnaldur, Halldorsson, Bjarni V., Halldorsson, Gisli H., Juliusdottir, Thorhildur, Kristinsdottir, Anna M., Ludviksdottir, Dora, Ludviksson, Bjorn R., Masson, Gisli, Norland, Kristjan, Onundarson, Pall T., Olafsson, Isleifur, Sigurdardottir, Olof, Stefansdottir, Lilja, Sveinbjornsson, Gardar, Tragante, Vinicius, Gudbjartsson, Daniel F., Thorleifsson, Gudmar, Sulem, Patrick, Thorsteinsdottir, Unnur, Norddahl, Gudmundur L., Jonsdottir, Ingileif, and Stefansson, Kari
Published: 2020
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10. Associations of autozygosity with a broad range of human phenotypes

Author: Clark, David W, Okada, Yukinori, Moore, Kristjan H S, Mason, Dan, Pirastu, Nicola, Gandin, Ilaria, Mattsson, Hannele, Barnes, Catriona L K, Lin, Kuang, Zhao, Jing Hua, Deelen, Patrick, Rohde, Rebecca, Schurmann, Claudia, Guo, Xiuqing, Giulianini, Franco, Zhang, Weihua, Medina-Gomez, Carolina, Karlsson, Robert, Bao, Yanchun, Bartz, Traci M, Baumbach, Clemens, Biino, Ginevra, Bixley, Matthew J, Brumat, Marco, Chai, Jin-Fang, Corre, Tanguy, Cousminer, Diana L, Dekker, Annelot M, Eccles, David A, van Eijk, Kristel R, Fuchsberger, Christian, Gao, He, Germain, Marine, Gordon, Scott D, de Haan, Hugoline G, Harris, Sarah E, Hofer, Edith, Huerta-Chagoya, Alicia, Igartua, Catherine, Jansen, Iris E, Jia, Yucheng, Kacprowski, Tim, Karlsson, Torgny, Kleber, Marcus E, Li, Shengchao Alfred, Li-Gao, Ruifang, Mahajan, Anubha, Matsuda, Koichi, Meidtner, Karina, Meng, Weihua, Montasser, May E, van der Most, Peter J, Munz, Matthias, Nutile, Teresa, Palviainen, Teemu, Prasad, Gauri, Prasad, Rashmi B, Priyanka, Tallapragada Divya Sri, Rizzi, Federica, Salvi, Erika, Sapkota, Bishwa R, Shriner, Daniel, Skotte, Line, Smart, Melissa C, Smith, Albert Vernon, van der Spek, Ashley, Spracklen, Cassandra N, Strawbridge, Rona J, Tajuddin, Salman M, Trompet, Stella, Turman, Constance, Verweij, Niek, Viberti, Clara, Wang, Lihua, Warren, Helen R, Wootton, Robyn E, Yanek, Lisa R, Yao, Jie, Yousri, Noha A, Zhao, Wei, Adeyemo, Adebowale A, Afaq, Saima, Aguilar-Salinas, Carlos Alberto, Akiyama, Masato, Albert, Matthew L, Allison, Matthew A, Alver, Maris, Aung, Tin, Azizi, Fereidoun, Bentley, Amy R, Boeing, Heiner, Boerwinkle, Eric, Borja, Judith B, de Borst, Gert J, Bottinger, Erwin P, Broer, Linda, Campbell, Harry, Chanock, Stephen, Chee, Miao-Li, Chen, Guanjie, Chen, Yii-Der I, Chen, Zhengming, Chiu, Yen-Feng, Cocca, Massimiliano, Collins, Francis S, Concas, Maria Pina, Corley, Janie, Cugliari, Giovanni, van Dam, Rob M, Damulina, Anna, Daneshpour, Maryam S, Day, Felix R, Delgado, Graciela E, Dhana, Klodian, Doney, Alexander S F, Dörr, Marcus, Doumatey, Ayo P, Dzimiri, Nduna, Ebenesersdóttir, S Sunna, Elliott, Joshua, Elliott, Paul, Ewert, Ralf, Felix, Janine F, Fischer, Krista, Freedman, Barry I, Girotto, Giorgia, Goel, Anuj, Gögele, Martin, Goodarzi, Mark O, Graff, Mariaelisa, Granot-Hershkovitz, Einat, Grodstein, Francine, Guarrera, Simonetta, Gudbjartsson, Daniel F, Guity, Kamran, Gunnarsson, Bjarni, Guo, Yu, Hagenaars, Saskia P, Haiman, Christopher A, Halevy, Avner, Harris, Tamara B, Hedayati, Mehdi, van Heel, David A, Hirata, Makoto, Höfer, Imo, Hsiung, Chao Agnes, Huang, Jinyan, Hung, Yi-Jen, Ikram, M Arfan, Jagadeesan, Anuradha, Jousilahti, Pekka, Kamatani, Yoichiro, Kanai, Masahiro, Kerrison, Nicola D, Kessler, Thorsten, Khaw, Kay-Tee, Khor, Chiea Chuen, de Kleijn, Dominique P V, Koh, Woon-Puay, Kolcic, Ivana, Kraft, Peter, Krämer, Bernhard K, Kutalik, Zoltán, Kuusisto, Johanna, Langenberg, Claudia, Launer, Lenore J, Lawlor, Deborah A, Lee, I-Te, Lee, Wen-Jane, Lerch, Markus M, Li, Liming, Liu, Jianjun, Loh, Marie, London, Stephanie J, Loomis, Stephanie, Lu, Yingchang, Luan, Jian’an, Mägi, Reedik, Manichaikul, Ani W, Manunta, Paolo, Másson, Gísli, Matoba, Nana, Mei, Xue W, Meisinger, Christa, Meitinger, Thomas, Mezzavilla, Massimo, Milani, Lili, Millwood, Iona Y, Momozawa, Yukihide, Moore, Amy, Morange, Pierre-Emmanuel, Moreno-Macías, Hortensia, Mori, Trevor A, Morrison, Alanna C, Muka, Taulant, Murakami, Yoshinori, Murray, Alison D, de Mutsert, Renée, Mychaleckyj, Josyf C, Nalls, Mike A, Nauck, Matthias, Neville, Matt J, Nolte, Ilja M, Ong, Ken K, Orozco, Lorena, Padmanabhan, Sandosh, Pálsson, Gunnar, Pankow, James S, Pattaro, Cristian, Pattie, Alison, Polasek, Ozren, Poulter, Neil, Pramstaller, Peter P, Quintana-Murci, Lluis, Räikkönen, Katri, Ralhan, Sarju, Rao, Dabeeru C, van Rheenen, Wouter, Rich, Stephen S, Ridker, Paul M, Rietveld, Cornelius A, Robino, Antonietta, van Rooij, Frank J A, Ruggiero, Daniela, Saba, Yasaman, Sabanayagam, Charumathi, Sabater-Lleal, Maria, Sala, Cinzia Felicita, Salomaa, Veikko, Sandow, Kevin, Schmidt, Helena, Scott, Laura J, Scott, William R, Sedaghati-Khayat, Bahareh, Sennblad, Bengt, van Setten, Jessica, Sever, Peter J, Sheu, Wayne H-H, Shi, Yuan, Shrestha, Smeeta, Shukla, Sharvari Rahul, Sigurdsson, Jon K, Sikka, Timo Tonis, Singh, Jai Rup, Smith, Blair H, Stančáková, Alena, Stanton, Alice, Starr, John M, Stefansdottir, Lilja, Straker, Leon, Sulem, Patrick, Sveinbjornsson, Gardar, Swertz, Morris A, Taylor, Adele M, Taylor, Kent D, Terzikhan, Natalie, Tham, Yih-Chung, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tillander, Annika, Tracy, Russell P, Tusié-Luna, Teresa, Tzoulaki, Ioanna, Vaccargiu, Simona, Vangipurapu, Jagadish, Veldink, Jan H, Vitart, Veronique, Völker, Uwe, Vuoksimaa, Eero, Wakil, Salma M, Waldenberger, Melanie, Wander, Gurpreet S, Wang, Ya Xing, Wareham, Nicholas J, Wild, Sarah, Yajnik, Chittaranjan S, Yuan, Jian-Min, Zeng, Lingyao, Zhang, Liang, Zhou, Jie, Amin, Najaf, Asselbergs, Folkert W, Bakker, Stephan J L, Becker, Diane M, Lehne, Benjamin, Bennett, David A, van den Berg, Leonard H, Berndt, Sonja I, Bharadwaj, Dwaipayan, Bielak, Lawrence F, Bochud, Murielle, Boehnke, Mike, Bouchard, Claude, Bradfield, Jonathan P, Brody, Jennifer A, Campbell, Archie, Carmi, Shai, Caulfield, Mark J, Cesarini, David, Chambers, John C, Chandak, Giriraj Ratan, Cheng, Ching-Yu, Ciullo, Marina, Cornelis, Marilyn, Cusi, Daniele, Smith, George Davey, Deary, Ian J, Dorajoo, Rajkumar, van Duijn, Cornelia M, Ellinghaus, David, Erdmann, Jeanette, Eriksson, Johan G, Evangelou, Evangelos, Evans, Michele K, Faul, Jessica D, Feenstra, Bjarke, Feitosa, Mary, Foisy, Sylvain, Franke, Andre, Friedlander, Yechiel, Gasparini, Paolo, Gieger, Christian, Gonzalez, Clicerio, Goyette, Philippe, Grant, Struan F A, Griffiths, Lyn R, Groop, Leif, Gudnason, Vilmundur, Gyllensten, Ulf, Hakonarson, Hakon, Hamsten, Anders, van der Harst, Pim, Heng, Chew-Kiat, Hicks, Andrew A, Hochner, Hagit, Huikuri, Heikki, Hunt, Steven C, Jaddoe, Vincent W V, De Jager, Philip L, Johannesson, Magnus, Johansson, Åsa, Jonas, Jost B, Jukema, J Wouter, Junttila, Juhani, Kaprio, Jaakko, Kardia, Sharon L. R., Karpe, Fredrik, Kumari, Meena, Laakso, Markku, van der Laan, Sander W, Lahti, Jari, Laudes, Matthias, Lea, Rodney A, Lieb, Wolfgang, Lumley, Thomas, Martin, Nicholas G, März, Winfried, Matullo, Giuseppe, McCarthy, Mark I, Medland, Sarah E, Merriman, Tony R, Metspalu, Andres, Meyer, Brian F, Mohlke, Karen L, Montgomery, Grant W, Mook-Kanamori, Dennis, Munroe, Patricia B, North, Kari E, Nyholt, Dale R, O’connell, Jeffery R, Ober, Carole, Oldehinkel, Albertine J, Palmas, Walter, Palmer, Colin, Pasterkamp, Gerard G, Patin, Etienne, Pennell, Craig E, Perusse, Louis, Peyser, Patricia A, Pirastu, Mario, Polderman, Tinca J. C., Porteous, David J, Posthuma, Danielle, Psaty, Bruce M, Rioux, John D, Rivadeneira, Fernando, Rotimi, Charles, Rotter, Jerome I, Rudan, Igor, Den Ruijter, Hester M, Sanghera, Dharambir K, Sattar, Naveed, Schmidt, Reinhold, Schulze, Matthias B, Schunkert, Heribert, Scott, Robert A, Shuldiner, Alan R, Sim, Xueling, Small, Neil, Smith, Jennifer A, Sotoodehnia, Nona, Tai, E-Shyong, Teumer, Alexander, Timpson, Nicholas J, Toniolo, Daniela, Tregouet, David-Alexandre, Tuomi, Tiinamaija, Vollenweider, Peter, Wang, Carol A, Weir, David R, Whitfield, John B, Wijmenga, Cisca, Wong, Tien-Yin, Wright, John, Yang, Jingyun, Yu, Lei, Zemel, Babette S, Zonderman, Alan B, Perola, Markus, Magnusson, Patrik K. E., Uitterlinden, André G, Kooner, Jaspal S, Chasman, Daniel I, Loos, Ruth J. F., Franceschini, Nora, Franke, Lude, Haley, Chris S, Hayward, Caroline, Walters, Robin G, Perry, John R. B., Esko, Tōnu, Helgason, Agnar, Stefansson, Kari, Joshi, Peter K, Kubo, Michiaki, and Wilson, James F
Published: 2019
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11. Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits

Author: Rafnar, Thorunn, Gunnarsson, Bjarni, Stefansson, Olafur A., Sulem, Patrick, Ingason, Andres, Frigge, Michael L., Stefansdottir, Lilja, Sigurdsson, Jon K., Tragante, Vinicius, Steinthorsdottir, Valgerdur, Styrkarsdottir, Unnur, Stacey, Simon N., Gudmundsson, Julius, Arnadottir, Gudny A., Oddsson, Asmundur, Zink, Florian, Halldorsson, Gisli, Sveinbjornsson, Gardar, Kristjansson, Ragnar P., Davidsson, Olafur B., Salvarsdottir, Anna, Thoroddsen, Asgeir, Helgadottir, Elisabet A., Kristjansdottir, Katrin, Ingthorsson, Orri, Gudmundsson, Valur, Geirsson, Reynir T., Arnadottir, Ragnheidur, Gudbjartsson, Daniel F., Masson, Gisli, Asselbergs, Folkert W., Jonasson, Jon G., Olafsson, Karl, Thorsteinsdottir, Unnur, Halldorsson, Bjarni V., Thorleifsson, Gudmar, and Stefansson, Kari
Published: 2018
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12. Hybrid continuum-particle method for fluctuating lipid bilayer membranes with diffusing protein inclusions

Author: Sigurdsson, Jon K., Brown, Frank L.H., and Atzberger, Paul J.
Published: 2013
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13. A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis

Author: Bell, Steven, Rigas, Andreas S., Magnusson, Magnus K., Ferkingstad, Egil, Allara, Elias, Bjornsdottir, Gyda, Ramond, Anna, Sørensen, Erik, Halldorsson, Gisli H., Paul, Dirk S., Burgdorf, Kristoffer S., Eggertsson, Hannes P., Howson, Joanna M. M., Thørner, Lise W., Kristmundsdottir, Snaedis, Astle, William J., Erikstrup, Christian, Sigurdsson, Jon K., Vuckovic, Dragana, Dinh, Khoa M., Tragante, Vinicius, Surendran, Praveen, Pedersen, Ole B., Vidarsson, Brynjar, Jiang, Tao, Paarup, Helene M., Onundarson, Pall T., Akbari, Parsa, Nielsen, Kaspar R., Lund, Sigrun H., Juliusson, Kristinn, Magnusson, Magnus I., Frigge, Michael L., Oddsson, Asmundur, Olafsson, Isleifur, Kaptoge, Stephen, Hjalgrim, Henrik, Runarsson, Gudmundur, Wood, Angela M., Jonsdottir, Ingileif, Hansen, Thomas F., Sigurdardottir, Olof, Stefansson, Hreinn, Rye, David, Peters, James E., Westergaard, David, Holm, Hilma, Soranzo, Nicole, Banasik, Karina, Thorleifsson, Gudmar, Ouwehand, Willem H., Thorsteinsdottir, Unnur, Roberts, David J., Sulem, Patrick, Butterworth, Adam S., Gudbjartsson, Daniel F., Danesh, John, Brunak, Søren, Di Angelantonio, Emanuele, Ullum, Henrik, Stefansson, Kari, Andersen, Steffen, Burgdorf, Kristoffer, Jemec, Gregor, Jennum, Poul, Johansson, Pär, Nielsen, Kasper R., Nyegaard, Mette, Petersen, Mikkel, Werge, Thomas, Stefánsson, Hreinn, Thorsteinsdóttir, Unnur, Bell, Steven [0000-0001-6774-3149], Magnusson, Magnus K. [0000-0001-8593-4934], Ferkingstad, Egil [0000-0001-8090-7988], Allara, Elias [0000-0002-1634-8330], Halldorsson, Gisli H. [0000-0001-7067-9862], Paul, Dirk S. [0000-0002-8230-0116], Eggertsson, Hannes P. [0000-0002-1674-9978], Howson, Joanna M. M. [0000-0001-7618-0050], Erikstrup, Christian [0000-0001-6551-6647], Tragante, Vinicius [0000-0002-8223-8957], Pedersen, Ole B. [0000-0003-2312-5976], Paarup, Helene M. [0000-0003-1281-1567], Akbari, Parsa [0000-0001-9210-4760], Lund, Sigrun H. [0000-0002-3806-2296], Frigge, Michael L. [0000-0003-2984-535X], Oddsson, Asmundur [0000-0002-4606-5163], Jonsdottir, Ingileif [0000-0001-8339-150X], Hansen, Thomas F. [0000-0001-6703-7762], Stefansson, Hreinn [0000-0002-9331-6666], Westergaard, David [0000-0003-0128-8432], Holm, Hilma [0000-0002-9517-6636], Soranzo, Nicole [0000-0003-1095-3852], Banasik, Karina [0000-0003-2489-2499], Ouwehand, Willem H. [0000-0002-7744-1790], Sulem, Patrick [0000-0001-7123-6123], Butterworth, Adam S. [0000-0002-6915-9015], Gudbjartsson, Daniel F. [0000-0002-5222-9857], Brunak, Søren [0000-0003-0316-5866], Stefansson, Kari [0000-0003-1676-864X], and Apollo - University of Cambridge Repository
Subjects: 45, 631/208/457/649, 692/308/2056, 45/43, article
Abstract: Iron is essential for many biological functions and iron deficiency and overload have major health implications. We performed a meta-analysis of three genome-wide association studies from Iceland, the UK and Denmark of blood levels of ferritin (N = 246,139), total iron binding capacity (N = 135,430), iron (N = 163,511) and transferrin saturation (N = 131,471). We found 62 independent sequence variants associating with iron homeostasis parameters at 56 loci, including 46 novel loci. Variants at DUOX2, F5, SLC11A2 and TMPRSS6 associate with iron deficiency anemia, while variants at TF, HFE, TFR2 and TMPRSS6 associate with iron overload. A HBS1L-MYB intergenic region variant associates both with increased risk of iron overload and reduced risk of iron deficiency anemia. The DUOX2 missense variant is present in 14% of the population, associates with all iron homeostasis biomarkers, and increases the risk of iron deficiency anemia by 29%. The associations implicate proteins contributing to the main physiological processes involved in iron homeostasis: iron sensing and storage, inflammation, absorption of iron from the gut, iron recycling, erythropoiesis and bleeding/menstruation.
Published: 2021
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14. Genetic insight into sick sinus syndrome

Author: Thorolfsdottir, Rosa B, Sveinbjornsson, Gardar, Aegisdottir, Hildur M, Benonisdottir, Stefania, Stefansdottir, Lilja, Ivarsdottir, Erna V, Halldorsson, Gisli H, Sigurdsson, Jon K, Torp-Pedersen, Christian, Weeke, Peter E, Brunak, Søren, Westergaard, David, Pedersen, Ole B., Sørensen, Erik, Nielsen, Kaspar R, Burgdorf, Kristoffer S., Banasik, Karina, Brumpton, Ben, Zhou, Wei, Oddsson, Asmundur, Tragante, Vinicius, Hjorleifsson, Kristjan E, Davidsson, Olafur B, Rajamani, Sridharan, Jonsson, Stefan, Torfason, Bjarni, Valgardsson, Atli S, Thorgeirsson, Gudmundur, Frigge, Michael L, Thorleifsson, Gudmar, Norddahl, Gudmundur L, Helgadottir, Anna, Gretarsdottir, Solveig, Sulem, Patrick, Jonsdottir, Ingileif, Willer, Cristen J, Hveem, Kristian, Bundgaard, Henning, Ullum, Henrik, Arnar, David O, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Holm, Hilma, Stefansson, Kari, Thorolfsdottir, Rosa B, Sveinbjornsson, Gardar, Aegisdottir, Hildur M, Benonisdottir, Stefania, Stefansdottir, Lilja, Ivarsdottir, Erna V, Halldorsson, Gisli H, Sigurdsson, Jon K, Torp-Pedersen, Christian, Weeke, Peter E, Brunak, Søren, Westergaard, David, Pedersen, Ole B., Sørensen, Erik, Nielsen, Kaspar R, Burgdorf, Kristoffer S., Banasik, Karina, Brumpton, Ben, Zhou, Wei, Oddsson, Asmundur, Tragante, Vinicius, Hjorleifsson, Kristjan E, Davidsson, Olafur B, Rajamani, Sridharan, Jonsson, Stefan, Torfason, Bjarni, Valgardsson, Atli S, Thorgeirsson, Gudmundur, Frigge, Michael L, Thorleifsson, Gudmar, Norddahl, Gudmundur L, Helgadottir, Anna, Gretarsdottir, Solveig, Sulem, Patrick, Jonsdottir, Ingileif, Willer, Cristen J, Hveem, Kristian, Bundgaard, Henning, Ullum, Henrik, Arnar, David O, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Holm, Hilma, and Stefansson, Kari
Abstract: AIMS: The aim of this study was to use human genetics to investigate the pathogenesis of sick sinus syndrome (SSS) and the role of risk factors in its development.METHODS AND RESULTS: We performed a genome-wide association study of 6469 SSS cases and 1 000 187 controls from deCODE genetics, the Copenhagen Hospital Biobank, UK Biobank, and the HUNT study. Variants at six loci associated with SSS, a reported missense variant in MYH6, known atrial fibrillation (AF)/electrocardiogram variants at PITX2, ZFHX3, TTN/CCDC141, and SCN10A and a low-frequency (MAF = 1.1-1.8%) missense variant, p.Gly62Cys in KRT8 encoding the intermediate filament protein keratin 8. A full genotypic model best described the p.Gly62Cys association (P = 1.6 × 10-20), with an odds ratio (OR) of 1.44 for heterozygotes and a disproportionally large OR of 13.99 for homozygotes. All the SSS variants increased the risk of pacemaker implantation. Their association with AF varied and p.Gly62Cys was the only variant not associating with any other arrhythmia or cardiovascular disease. We tested 17 exposure phenotypes in polygenic score (PGS) and Mendelian randomization analyses. Only two associated with the risk of SSS in Mendelian randomization, AF, and lower heart rate, suggesting causality. Powerful PGS analyses provided convincing evidence against causal associations for body mass index, cholesterol, triglycerides, and type 2 diabetes (P > 0.05).CONCLUSION: We report the associations of variants at six loci with SSS, including a missense variant in KRT8 that confers high risk in homozygotes and points to a mechanism specific to SSS development. Mendelian randomization supports a causal role for AF in the development of SSS.
Published: 2021

15. Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women

Author: Steinthorsdottir, Valgerdur, McGinnis, Ralph, Williams, Nicholas O., Stefansdottir, Lilja, Thorleifsson, Gudmar, Shooter, Scott, Sigurdsson, Jon K., Auro, Kirsi M., Berezina, Galina, Borges, MariaCarolina, Bumpstead, Suzannah, Bybjerg-Grauholm, Jonas, Colgiu, Irina, Dolby, Vivien A., Dudbridge, Frank, Engel, Stephanie M., Franklin, Christopher S., Frigge, Michael L., Frisbaek, Yr, Geirsson, Reynir T., Geller, Frank, Gretarsdottir, Solveig, Gudbjartsson, Daniel F., Harmon, Quaker, Hougaard, David Michael, Hegay, Tatyana, Helgadottir, Anna, Hjartardottir, Sigrun, Johannsdottir, Hrefna, Jonsdottir, Ingileif, Juliusdottir, Thorhildur, Kalsheker, Noor, Kasimov, Abdumadjit, Kemp, John P., Kivinen, Katja, Lee, Wai K., Melbye, Mads, Miedzybrodska, Zosia, Moffett, Ashley, Najmutdinova, Dilbar, Nishanova, Firuza, Olafsdottir, Thorunn, Perola, Markus, Broughton Pipkin, Fiona, Poston, Lucilla, Prescott, Gordon, Saevarsdottir, Saedis, Salimbayeva, Damilya, Juliet Scaife, Paula, Skotte, Line, Staines-Urias, Eleonora, Stefansson, Olafur A., Cecilie Vestrheim Thomsen, Liv, Tragante, Vinicius, Trogstad, Lill, Simpson, Nigel A.B., FINNPEC Consortium, GOPEC Consortium, Aripova, Tamara, Casas, Juan P., Dominiczak, Anna F., Walker, James J., Thorsteinsdottir, Unnur, Iversen, Ann-Charlotte, Feenstra, Bjarke, Lawlor, Deborah A., Boyd, Heather Allison, Magnus, Per, Laivuori, Hannele, Zakhidova, Nodira, Svyatova, Gulnara, Stefansson, Kari, and Morgan, Linda
Subjects: General Physics and Astronomy, General Chemistry, General Biochemistry, Genetics and Molecular Biology
Published: 2020

16. Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank

Author: Onderzoek Precision medicine, Circulatory Health, Team Medisch, Olafsdottir, Thorhildur, Thorleifsson, Gudmar, Sulem, Patrick, Stefansson, Olafur A, Medek, Helga, Olafsson, Karl, Ingthorsson, Orri, Gudmundsson, Valur, Jonsdottir, Ingileif, Halldorsson, Gisli H, Kristjansson, Ragnar P, Frigge, Michael L, Stefansdottir, Lilja, Sigurdsson, Jon K, Oddsson, Asmundur, Sigurdsson, Asgeir, Eggertsson, Hannes P, Melsted, Pall, Halldorsson, Bjarni V, Lund, Sigrun H, Styrkarsdottir, Unnur, Steinthorsdottir, Valgerdur, Gudmundsson, Julius, Holm, Hilma, Tragante, Vinicius, Asselbergs, Folkert W, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Jonsdottir, Kristin, Rafnar, Thorunn, Stefansson, Kari, Onderzoek Precision medicine, Circulatory Health, Team Medisch, Olafsdottir, Thorhildur, Thorleifsson, Gudmar, Sulem, Patrick, Stefansson, Olafur A, Medek, Helga, Olafsson, Karl, Ingthorsson, Orri, Gudmundsson, Valur, Jonsdottir, Ingileif, Halldorsson, Gisli H, Kristjansson, Ragnar P, Frigge, Michael L, Stefansdottir, Lilja, Sigurdsson, Jon K, Oddsson, Asmundur, Sigurdsson, Asgeir, Eggertsson, Hannes P, Melsted, Pall, Halldorsson, Bjarni V, Lund, Sigrun H, Styrkarsdottir, Unnur, Steinthorsdottir, Valgerdur, Gudmundsson, Julius, Holm, Hilma, Tragante, Vinicius, Asselbergs, Folkert W, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Jonsdottir, Kristin, Rafnar, Thorunn, and Stefansson, Kari
Published: 2020

17. Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

Author: Team Medisch, Circulatory Health, Onderzoek Precision medicine, Oskarsson, Gudjon R, Oddsson, Asmundur, Magnusson, Magnus K, Kristjansson, Ragnar P, Halldorsson, Gisli H, Ferkingstad, Egil, Zink, Florian, Helgadottir, Anna, Ivarsdottir, Erna V, Arnadottir, Gudny A, Jensson, Brynjar O, Katrinardottir, Hildigunnur, Sveinbjornsson, Gardar, Kristinsdottir, Anna M, Lee, Amy L, Saemundsdottir, Jona, Stefansdottir, Lilja, Sigurdsson, Jon K, Davidsson, Olafur B, Benonisdottir, Stefania, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Jonsson, Stefan, Gudmundsson, Reynir L, Asselbergs, Folkert W, Tragante, Vinicius, Gunnarsson, Bjarni, Masson, Gisli, Thorleifsson, Gudmar, Rafnar, Thorunn, Holm, Hilma, Olafsson, Isleifur, Onundarson, Pall T, Gudbjartsson, Daniel F, Norddahl, Gudmundur L, Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari, Team Medisch, Circulatory Health, Onderzoek Precision medicine, Oskarsson, Gudjon R, Oddsson, Asmundur, Magnusson, Magnus K, Kristjansson, Ragnar P, Halldorsson, Gisli H, Ferkingstad, Egil, Zink, Florian, Helgadottir, Anna, Ivarsdottir, Erna V, Arnadottir, Gudny A, Jensson, Brynjar O, Katrinardottir, Hildigunnur, Sveinbjornsson, Gardar, Kristinsdottir, Anna M, Lee, Amy L, Saemundsdottir, Jona, Stefansdottir, Lilja, Sigurdsson, Jon K, Davidsson, Olafur B, Benonisdottir, Stefania, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Jonsson, Stefan, Gudmundsson, Reynir L, Asselbergs, Folkert W, Tragante, Vinicius, Gunnarsson, Bjarni, Masson, Gisli, Thorleifsson, Gudmar, Rafnar, Thorunn, Holm, Hilma, Olafsson, Isleifur, Onundarson, Pall T, Gudbjartsson, Daniel F, Norddahl, Gudmundur L, Thorsteinsdottir, Unnur, Sulem, Patrick, and Stefansson, Kari
Published: 2020

18. Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA

Author: Gudmundsson, Julius, Sigurdsson, Jon K, Stefansdottir, Lilja, Agnarsson, Bjarni A, Isaksson, Helgi J, Stefansson, Olafur A, Gudjonsson, Sigurjon A, Gudbjartsson, Daniel F, Masson, Gisli, Frigge, Michael L, Stacey, Simon N, Sulem, Patrick, Halldorsson, Gisli H, Tragante, Vinicius, Holm, Hilma, Eyjolfsson, Gudmundur I, Sigurdardottir, Olof, Olafsson, Isleifur, Jonsson, Thorvaldur, Jonsson, Eirikur, Barkardottir, Rosa B, Hilmarsson, Rafn, Geirsson, Gudmundur, Asselbergs, Folkert W, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Thorleifsson, Gudmar, Stefansson, Kari, Gudmundsson, Julius, Sigurdsson, Jon K, Stefansdottir, Lilja, Agnarsson, Bjarni A, Isaksson, Helgi J, Stefansson, Olafur A, Gudjonsson, Sigurjon A, Gudbjartsson, Daniel F, Masson, Gisli, Frigge, Michael L, Stacey, Simon N, Sulem, Patrick, Halldorsson, Gisli H, Tragante, Vinicius, Holm, Hilma, Eyjolfsson, Gudmundur I, Sigurdardottir, Olof, Olafsson, Isleifur, Jonsson, Thorvaldur, Jonsson, Eirikur, Barkardottir, Rosa B, Hilmarsson, Rafn, Geirsson, Gudmundur, Asselbergs, Folkert W, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Thorleifsson, Gudmar, and Stefansson, Kari
Published: 2018

19. Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA

Author: Onderzoek Precision medicine, Circulatory Health, Team Medisch, Gudmundsson, Julius, Sigurdsson, Jon K, Stefansdottir, Lilja, Agnarsson, Bjarni A, Isaksson, Helgi J, Stefansson, Olafur A, Gudjonsson, Sigurjon A, Gudbjartsson, Daniel F, Masson, Gisli, Frigge, Michael L, Stacey, Simon N, Sulem, Patrick, Halldorsson, Gisli H, Tragante, Vinicius, Holm, Hilma, Eyjolfsson, Gudmundur I, Sigurdardottir, Olof, Olafsson, Isleifur, Jonsson, Thorvaldur, Jonsson, Eirikur, Barkardottir, Rosa B, Hilmarsson, Rafn, Geirsson, Gudmundur, Asselbergs, Folkert W, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Thorleifsson, Gudmar, Stefansson, Kari, Onderzoek Precision medicine, Circulatory Health, Team Medisch, Gudmundsson, Julius, Sigurdsson, Jon K, Stefansdottir, Lilja, Agnarsson, Bjarni A, Isaksson, Helgi J, Stefansson, Olafur A, Gudjonsson, Sigurjon A, Gudbjartsson, Daniel F, Masson, Gisli, Frigge, Michael L, Stacey, Simon N, Sulem, Patrick, Halldorsson, Gisli H, Tragante, Vinicius, Holm, Hilma, Eyjolfsson, Gudmundur I, Sigurdardottir, Olof, Olafsson, Isleifur, Jonsson, Thorvaldur, Jonsson, Eirikur, Barkardottir, Rosa B, Hilmarsson, Rafn, Geirsson, Gudmundur, Asselbergs, Folkert W, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Thorleifsson, Gudmar, and Stefansson, Kari
Published: 2018

20. Variants in the fetal genome near FLT1 are associated with risk of preeclampsia

Author: McGinnis, Ralph, Steinthorsdottir, Valgerdur, Williams, Nicholas O, Thorleifsson, Gudmar, Shooter, Scott, Hjartardottir, Sigrun, Bumpstead, Suzannah, Stefansdottir, Lilja, Hildyard, Lucy, Sigurdsson, Jon K, Kemp, John P, Silva, Gabriela B, Thomsen, Liv Cecilie V, Jääskeläinen, Tiina, Kajantie, Eero, Chappell, Sally, Kalsheker, Noor, Moffett, Ashley, Hiby, Susan, Lee, Wai Kwong, Padmanabhan, Sandosh, Simpson, Nigel AB, Dolby, Vivien A, Staines-Urias, Eleonora, Engel, Stephanie M, Haugan, Anita, Trogstad, Lill, Svyatova, Gulnara, Zakhidova, Nodira, Najmutdinova, Dilbar, FINNPEC Consortium, GOPEC Consortium, Dominiczak, Anna F, Gjessing, Håkon K, Casas, Juan P, Dudbridge, Frank, Walker, James J, Pipkin, Fiona Broughton, Thorsteinsdottir, Unnur, Geirsson, Reynir T, Lawlor, Debbie A, Iversen, Ann-Charlotte, Magnus, Per, Laivuori, Hannele, Stefansson, Kari, and Morgan, Linda
Subjects: embryonic structures, female genital diseases and pregnancy complications, reproductive and urinary physiology
Abstract: Preeclampsia, which affects approximately 5% of pregnancies, is a leading cause of maternal and perinatal death. The causes of preeclampsia remain unclear, but there is evidence for inherited susceptibility. Genome-wide association studies (GWAS) have not identified maternal sequence variants of genome-wide significance that replicate in independent data sets. We report the first GWAS of offspring from preeclamptic pregnancies and discovery of the first genome-wide significant susceptibility locus (rs4769613; P = 5.4 × 10-11) in 4,380 cases and 310,238 controls. This locus is near the FLT1 gene encoding Fms-like tyrosine kinase 1, providing biological support, as a placental isoform of this protein (sFlt-1) is implicated in the pathology of preeclampsia. The association was strongest in offspring from pregnancies in which preeclampsia developed during late gestation and offspring birth weights exceeded the tenth centile. An additional nearby variant, rs12050029, associated with preeclampsia independently of rs4769613. The newly discovered locus may enhance understanding of the pathophysiology of preeclampsia and its subtypes.
Published: 2017

21. Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA

Author: Gudmundsson, Julius, primary, Sigurdsson, Jon K., additional, Stefansdottir, Lilja, additional, Agnarsson, Bjarni A., additional, Isaksson, Helgi J., additional, Stefansson, Olafur A., additional, Gudjonsson, Sigurjon A., additional, Gudbjartsson, Daniel F., additional, Masson, Gisli, additional, Frigge, Michael L., additional, Stacey, Simon N., additional, Sulem, Patrick, additional, Halldorsson, Gisli H., additional, Tragante, Vinicius, additional, Holm, Hilma, additional, Eyjolfsson, Gudmundur I., additional, Sigurdardottir, Olof, additional, Olafsson, Isleifur, additional, Jonsson, Thorvaldur, additional, Jonsson, Eirikur, additional, Barkardottir, Rosa B., additional, Hilmarsson, Rafn, additional, Asselbergs, Folkert W., additional, Geirsson, Gudmundur, additional, Thorsteinsdottir, Unnur, additional, Rafnar, Thorunn, additional, Thorleifsson, Gudmar, additional, and Stefansson, Kari, additional
Published: 2018
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22. Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin

Author: Rafnar, Thorunn, primary, Sigurjonsdottir, Gudbjorg R, additional, Stacey, Simon N, additional, Halldorsson, Gisli, additional, Sulem, Patrick, additional, Pardo, Luba M, additional, Helgason, Hannes, additional, Sigurdsson, Stefan T, additional, Gudjonsson, Thorkell, additional, Tryggvadottir, Laufey, additional, Olafsdottir, Gudridur H, additional, Jonasson, Jon G, additional, Alexiusdottir, Kristin, additional, Sigurdsson, Asgeir, additional, Gudmundsson, Julius, additional, Saemundsdottir, Jona, additional, Sigurdsson, Jon K, additional, Johannsdottir, Hrefna, additional, Uitterlinden, Andre, additional, Vermeulen, Sita H, additional, Galesloot, Tessel E, additional, Allain, Dawn C, additional, Lacko, Martin, additional, Sigurgeirsson, Bardur, additional, Thorisdottir, Kristin, additional, Johannsson, Oskar T, additional, Sigurdsson, Fridbjorn, additional, Ragnarsson, Gunnar B, additional, Isaksson, Helgi, additional, Hardardottir, Hronn, additional, Gudbjartsson, Tomas, additional, Gudbjartsson, Daniel F, additional, Masson, Gisli, additional, Kiemeney, Lambertus A M L, additional, Ewart Toland, Amanda, additional, Nijsten, Tamar, additional, Peters, Wilbert H M, additional, Olafsson, Jon H, additional, Jonsson, Steinn, additional, Thorsteinsdottir, Unnur, additional, Thorleifsson, Gudmar, additional, and Stefansson, Kari, additional
Published: 2018
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23. Sequence variant at 4q25 near PITX2 associates with appendicitis

Author: Kristjansson, Ragnar P., primary, Benonisdottir, Stefania, additional, Oddsson, Asmundur, additional, Galesloot, Tessel E., additional, Thorleifsson, Gudmar, additional, Aben, Katja K., additional, Davidsson, Olafur B., additional, Jonsson, Stefan, additional, Arnadottir, Gudny A., additional, Jensson, Brynjar O., additional, Walters, G. Bragi, additional, Sigurdsson, Jon K., additional, Sigurdsson, Snaevar, additional, Holm, Hilma, additional, Arnar, David O., additional, Thorgeirsson, Gudmundur, additional, Alexiusdottir, Kristin, additional, Jonsdottir, Ingileif, additional, Thorsteinsdottir, Unnur, additional, Kiemeney, Lambertus A., additional, Jonsson, Thorvaldur, additional, Gudbjartsson, Daniel F., additional, Rafnar, Thorunn, additional, Sulem, Patrick, additional, and Stefansson, Kari, additional
Published: 2017
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24. A genome-wide association study yields five novel thyroid cancer risk loci

Author: Gudmundsson, Julius, primary, Thorleifsson, Gudmar, additional, Sigurdsson, Jon K., additional, Stefansdottir, Lilja, additional, Jonasson, Jon G., additional, Gudjonsson, Sigurjon A., additional, Gudbjartsson, Daniel F., additional, Masson, Gisli, additional, Johannsdottir, Hrefna, additional, Halldorsson, Gisli H., additional, Stacey, Simon N., additional, Helgason, Hannes, additional, Sulem, Patrick, additional, Senter, Leigha, additional, He, Huiling, additional, Liyanarachchi, Sandya, additional, Ringel, Matthew D., additional, Aguillo, Esperanza, additional, Panadero, Angeles, additional, Prats, Enrique, additional, Garcia-Castaño, Almudena, additional, De Juan, Ana, additional, Rivera, Fernando, additional, Xu, Li, additional, Kiemeney, Lambertus A., additional, Eyjolfsson, Gudmundur I., additional, Sigurdardottir, Olof, additional, Olafsson, Isleifur, additional, Kristvinsson, Hoskuldur, additional, Netea-Maier, Romana T., additional, Jonsson, Thorvaldur, additional, Mayordomo, Jose I., additional, Plantinga, Theo S., additional, Hjartarson, Hannes, additional, Hrafnkelsson, Jon, additional, Sturgis, Erich M., additional, Thorsteinsdottir, Unnur, additional, Rafnar, Thorunn, additional, de la Chapelle, Albert, additional, and Stefansson, Kari, additional
Published: 2017
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25. FLT3stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease

Author: Saevarsdottir, Saedis, Olafsdottir, Thorunn A., Ivarsdottir, Erna V., Halldorsson, Gisli H., Gunnarsdottir, Kristbjorg, Sigurdsson, Asgeir, Johannesson, Ari, Sigurdsson, Jon K., Juliusdottir, Thorhildur, Lund, Sigrun H., Arnthorsson, Asgeir O., Styrmisdottir, Edda L., Gudmundsson, Julius, Grondal, Gerdur M., Steinsson, Kristjan, Alfredsson, Lars, Askling, Johan, Benediktsson, Rafn, Bjarnason, Ragnar, Geirsson, Arni J., Gudbjornsson, Bjorn, Gudjonsson, Hallgrimur, Hjaltason, Haukur, Hreidarsson, Astradur B., Klareskog, Lars, Kockum, Ingrid, Kristjansdottir, Helga, Love, Thorvardur J., Ludviksson, Bjorn R., Olsson, Tomas, Onundarson, Pall T., Orvar, Kjartan B., Padyukov, Leonid, Sigurgeirsson, Bardur, Tragante, Vinicius, Bjarnadottir, Kristbjorg, Rafnar, Thorunn, Masson, Gisli, Sulem, Patrick, Gudbjartsson, Daniel F., Melsted, Pall, Thorleifsson, Gudmar, Norddahl, Gudmundur L., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, and Stefansson, Kari
Abstract: Autoimmune thyroid disease is the most common autoimmune disease and is highly heritable1. Here, by using a genome-wide association study of 30,234 cases and 725,172 controls from Iceland and the UK Biobank, we find 99 sequence variants at 93 loci, of which 84 variants are previously unreported2–7. A low-frequency (1.36%) intronic variant in FLT3(rs76428106-C) has the largest effect on risk of autoimmune thyroid disease (odds ratio (OR) = 1.46, P= 2.37 × 10−24). rs76428106-C is also associated with systemic lupus erythematosus (OR = 1.90, P= 6.46 × 10−4), rheumatoid factor and/or anti-CCP-positive rheumatoid arthritis (OR = 1.41, P= 4.31 × 10−4) and coeliac disease (OR = 1.62, P= 1.20 × 10−4). FLT3encodes fms-related tyrosine kinase 3, a receptor that regulates haematopoietic progenitor and dendritic cells. RNA sequencing revealed that rs76428106-C generates a cryptic splice site, which introduces a stop codon in 30% of transcripts that are predicted to encode a truncated protein, which lacks its tyrosine kinase domains. Each copy of rs76428106-C doubles the plasma levels of the FTL3 ligand. Activating somatic mutations in FLT3are associated with acute myeloid leukaemia8with a poor prognosis and rs76428106-C also predisposes individuals to acute myeloid leukaemia (OR = 1.90, P= 5.40 × 10−3). Thus, a predicted loss-of-function germline mutation in FLT3causes a reduction in full-length FLT3, with a compensatory increase in the levels of its ligand and an increased disease risk, similar to that of a gain-of-function mutation.
Published: 2020
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26. Epigenetic and genetic components of height regulation

Author: Benonisdottir, Stefania, primary, Oddsson, Asmundur, additional, Helgason, Agnar, additional, Kristjansson, Ragnar P., additional, Sveinbjornsson, Gardar, additional, Oskarsdottir, Arna, additional, Thorleifsson, Gudmar, additional, Davidsson, Olafur B., additional, Arnadottir, Gudny A., additional, Sulem, Gerald, additional, Jensson, Brynjar O., additional, Holm, Hilma, additional, Alexandersson, Kristjan F., additional, Tryggvadottir, Laufey, additional, Walters, G. Bragi, additional, Gudjonsson, Sigurjon A., additional, Ward, Lucas D., additional, Sigurdsson, Jon K., additional, Iordache, Paul D., additional, Frigge, Michael L., additional, Rafnar, Thorunn, additional, Kong, Augustine, additional, Masson, Gisli, additional, Helgason, Hannes, additional, Thorsteinsdottir, Unnur, additional, Gudbjartsson, Daniel F., additional, Sulem, Patrick, additional, and Stefansson, Kari, additional
Published: 2016
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27. A loss-of-function variant in ALOX15protects against nasal polyps and chronic rhinosinusitis

Author: Kristjansson, Ragnar P., Benonisdottir, Stefania, Davidsson, Olafur B., Oddsson, Asmundur, Tragante, Vinicius, Sigurdsson, Jon K., Stefansdottir, Lilja, Jonsson, Stefan, Jensson, Brynjar O., Arthur, Joseph G., Arnadottir, Gudny A., Sulem, Gerald, Halldorsson, Bjarni V., Gunnarsson, Bjarni, Halldorsson, Gisli H., Stefansson, Olafur A., Oskarsson, Gudjon R., Deaton, Aimee M., Olafsson, Isleifur, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Onundarson, Pall T., Gislason, David, Gislason, Thorarinn, Ludviksson, Bjorn R., Ludviksdottir, Dora, Olafsdottir, Thorunn A., Rafnar, Thorunn, Masson, Gisli, Zink, Florian, Bjornsdottir, Gyda, Magnusson, Olafur Th., Bjornsdottir, Unnur S., Thorleifsson, Gudmar, Norddahl, Gudmundur L., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Sulem, Patrick, and Stefansson, Kari
Abstract: Nasal polyps (NP) are lesions on the nasal and paranasal sinus mucosa and are a risk factor for chronic rhinosinusitis (CRS). We performed genome-wide association studies on NP and CRS in Iceland and the UK (using UK Biobank data) with 4,366 NP cases, 5,608 CRS cases, and >700,000 controls. We found 10 markers associated with NP and 2 with CRS. We also tested 210 markers reported to associate with eosinophil count, yielding 17 additional NP associations. Of the 27 NP signals, 7 associate with CRS and 13 with asthma. Most notably, a missense variant in ALOX15that causes a p.Thr560Met alteration in arachidonate 15-lipoxygenase (15-LO) confers large genome-wide significant protection against NP (P=8.0 × 10−27, odds ratio = 0.32; 95% confidence interval = 0.26, 0.39) and CRS (P=1.1 × 10−8, odds ratio = 0.64; 95% confidence interval = 0.55, 0.75). p.Thr560Met, carried by around 1 in 20 Europeans, was previously shown to cause near total loss of 15-LO enzymatic activity. Our findings identify 15-LO as a potential target for therapeutic intervention in NP and CRS.
Published: 2019
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28. Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1and 13 more new loci associated with osteoarthritis

Author: Styrkarsdottir, Unnur, Lund, Sigrun H., Thorleifsson, Gudmar, Zink, Florian, Stefansson, Olafur A., Sigurdsson, Jon K., Juliusson, Kristinn, Bjarnadottir, Kristbjörg, Sigurbjornsdottir, Sara, Jonsson, Stefan, Norland, Kristjan, Stefansdottir, Lilja, Sigurdsson, Asgeir, Sveinbjornsson, Gardar, Oddsson, Asmundur, Bjornsdottir, Gyda, Gudmundsson, Reynir L., Halldorsson, Gisli H., Rafnar, Thorunn, Jonsdottir, Ingileif, Steingrimsson, Eirikur, Norddahl, Gudmundur L., Masson, Gisli, Sulem, Patrick, Jonsson, Helgi, Ingvarsson, Thorvaldur, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, and Stefansson, Kari
Abstract: Osteoarthritis has a highly negative impact on quality of life because of the associated pain and loss of joint function. Here we describe the largest meta-analysis so far of osteoarthritis of the hip and the knee in samples from Iceland and the UK Biobank (including 17,151 hip osteoarthritis patients, 23,877 knee osteoarthritis patients, and more than 562,000 controls). We found 23 independent associations at 22 loci in the additive meta-analyses, of which 16 of the loci were novel: 12 for hip and 4 for knee osteoarthritis. Two associations are between rare or low-frequency missense variants and hip osteoarthritis, affecting the genes SMO(rs143083812, frequency 0.11%, odds ratio (OR) = 2.8, P= 7.9 × 10−12, p.Arg173Cys) and IL11(rs4252548, frequency 2.08%, OR = 1.30, P= 2.1 × 10−11, p.Arg112His). A common missense variant in the COL11A1gene also associates with hip osteoarthritis (rs3753841, frequency 61%, P= 5.2 × 10–10, OR = 1.08, p.Pro1284Leu). In addition, using a recessive model, we confirm an association between hip osteoarthritis and a variant of CHADL1(rs117018441, P= 1.8 × 10−25, OR = 5.9). Furthermore, we observe a complex relationship between height and risk of osteoarthritis.
Published: 2018
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29. Associations of autozygosity with a broad range of human phenotypes

Author: Clark, David W, Okada, Yukinori, Moore, Kristjan HS, Mason, Dan, Pirastu, Nicola, Gandin, Ilaria, Mattsson, Hannele, Barnes, Catriona LK, Lin, Kuang, Zhao, Jing Hua, Deelen, Patrick, Rohde, Rebecca, Schurmann, Claudia, Guo, Xiuqing, Giulianini, Franco, Zhang, Weihua, Medina-Gomez, Carolina, Karlsson, Robert, Bao, Yanchun, Bartz, Traci M, Baumbach, Clemens, Biino, Ginevra, Bixley, Matthew J, Brumat, Marco, Chai, Jin-Fang, Corre, Tanguy, Cousminer, Diana L, Dekker, Annelot M, Eccles, David A, Van Eijk, Kristel R, Fuchsberger, Christian, Gao, He, Germain, Marine, Gordon, Scott D, De Haan, Hugoline G, Harris, Sarah E, Hofer, Edith, Huerta-Chagoya, Alicia, Igartua, Catherine, Jansen, Iris E, Jia, Yucheng, Kacprowski, Tim, Karlsson, Torgny, Kleber, Marcus E, Li, Shengchao Alfred, Li-Gao, Ruifang, Mahajan, Anubha, Matsuda, Koichi, Meidtner, Karina, Meng, Weihua, Montasser, May E, Van Der Most, Peter J, Munz, Matthias, Nutile, Teresa, Palviainen, Teemu, Prasad, Gauri, Prasad, Rashmi B, Priyanka, Tallapragada Divya Sri, Rizzi, Federica, Salvi, Erika, Sapkota, Bishwa R, Shriner, Daniel, Skotte, Line, Smart, Melissa C, Smith, Albert Vernon, Van Der Spek, Ashley, Spracklen, Cassandra N, Strawbridge, Rona J, Tajuddin, Salman M, Trompet, Stella, Turman, Constance, Verweij, Niek, Viberti, Clara, Wang, Lihua, Warren, Helen R, Wootton, Robyn E, Yanek, Lisa R, Yao, Jie, Yousri, Noha A, Zhao, Wei, Adeyemo, Adebowale A, Afaq, Saima, Aguilar-Salinas, Carlos Alberto, Akiyama, Masato, Albert, Matthew L, Allison, Matthew A, Alver, Maris, Aung, Tin, Azizi, Fereidoun, Bentley, Amy R, Boeing, Heiner, Boerwinkle, Eric, Borja, Judith B, De Borst, Gert J, Bottinger, Erwin P, Broer, Linda, Campbell, Harry, Chanock, Stephen, Chee, Miao-Li, Chen, Guanjie, Chen, Yii-Der I, Chen, Zhengming, Chiu, Yen-Feng, Cocca, Massimiliano, Collins, Francis S, Concas, Maria Pina, Corley, Janie, Cugliari, Giovanni, Van Dam, Rob M, Damulina, Anna, Daneshpour, Maryam S, Day, Felix R, Delgado, Graciela E, Dhana, Klodian, Doney, Alexander SF, Dörr, Marcus, Doumatey, Ayo P, Dzimiri, Nduna, Ebenesersdóttir, S Sunna, Elliott, Joshua, Elliott, Paul, Ewert, Ralf, Felix, Janine F, Fischer, Krista, Freedman, Barry I, Girotto, Giorgia, Goel, Anuj, Gögele, Martin, Goodarzi, Mark O, Graff, Mariaelisa, Granot-Hershkovitz, Einat, Grodstein, Francine, Guarrera, Simonetta, Gudbjartsson, Daniel F, Guity, Kamran, Gunnarsson, Bjarni, Guo, Yu, Hagenaars, Saskia P, Haiman, Christopher A, Halevy, Avner, Harris, Tamara B, Hedayati, Mehdi, Van Heel, David A, Hirata, Makoto, Höfer, Imo, Hsiung, Chao Agnes, Huang, Jinyan, Hung, Yi-Jen, Ikram, M Arfan, Jagadeesan, Anuradha, Jousilahti, Pekka, Kamatani, Yoichiro, Kanai, Masahiro, Kerrison, Nicola D, Kessler, Thorsten, Khaw, Kay-Tee, Khor, Chiea Chuen, De Kleijn, Dominique PV, Koh, Woon-Puay, Kolcic, Ivana, Kraft, Peter, Krämer, Bernhard K, Kutalik, Zoltán, Kuusisto, Johanna, Langenberg, Claudia, Launer, Lenore J, Lawlor, Deborah A, Lee, I-Te, Lee, Wen-Jane, Lerch, Markus M, Li, Liming, Liu, Jianjun, Loh, Marie, London, Stephanie J, Loomis, Stephanie, Lu, Yingchang, Luan, Jian'an, Mägi, Reedik, Manichaikul, Ani W, Manunta, Paolo, Másson, Gísli, Matoba, Nana, Mei, Xue W, Meisinger, Christa, Meitinger, Thomas, Mezzavilla, Massimo, Milani, Lili, Millwood, Iona Y, Momozawa, Yukihide, Moore, Amy, Morange, Pierre-Emmanuel, Moreno-Macías, Hortensia, Mori, Trevor A, Morrison, Alanna C, Muka, Taulant, Murakami, Yoshinori, Murray, Alison D, De Mutsert, Renée, Mychaleckyj, Josyf C, Nalls, Mike A, Nauck, Matthias, Neville, Matt J, Nolte, Ilja M, Ong, Ken K, Orozco, Lorena, Padmanabhan, Sandosh, Pálsson, Gunnar, Pankow, James S, Pattaro, Cristian, Pattie, Alison, Polasek, Ozren, Poulter, Neil, Pramstaller, Peter P, Quintana-Murci, Lluis, Räikkönen, Katri, Ralhan, Sarju, Rao, Dabeeru C, Van Rheenen, Wouter, Rich, Stephen S, Ridker, Paul M, Rietveld, Cornelius A, Robino, Antonietta, Van Rooij, Frank JA, Ruggiero, Daniela, Saba, Yasaman, Sabanayagam, Charumathi, Sabater-Lleal, Maria, Sala, Cinzia Felicita, Salomaa, Veikko, Sandow, Kevin, Schmidt, Helena, Scott, Laura J, Scott, William R, Sedaghati-Khayat, Bahareh, Sennblad, Bengt, Van Setten, Jessica, Sever, Peter J, Sheu, Wayne H-H, Shi, Yuan, Shrestha, Smeeta, Shukla, Sharvari Rahul, Sigurdsson, Jon K, Sikka, Timo Tonis, Singh, Jai Rup, Smith, Blair H, Stančáková, Alena, Stanton, Alice, Starr, John M, Stefansdottir, Lilja, Straker, Leon, Sulem, Patrick, Sveinbjornsson, Gardar, Swertz, Morris A, Taylor, Adele M, Taylor, Kent D, Terzikhan, Natalie, Tham, Yih-Chung, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tillander, Annika, Tracy, Russell P, Tusié-Luna, Teresa, Tzoulaki, Ioanna, Vaccargiu, Simona, Vangipurapu, Jagadish, Veldink, Jan H, Vitart, Veronique, Völker, Uwe, Vuoksimaa, Eero, Wakil, Salma M, Waldenberger, Melanie, Wander, Gurpreet S, Wang, Ya Xing, Wareham, Nicholas J, Wild, Sarah, Yajnik, Chittaranjan S, Yuan, Jian-Min, Zeng, Lingyao, Zhang, Liang, Zhou, Jie, Amin, Najaf, Asselbergs, Folkert W, Bakker, Stephan JL, Becker, Diane M, Lehne, Benjamin, Bennett, David A, Van Den Berg, Leonard H, Berndt, Sonja I, Bharadwaj, Dwaipayan, Bielak, Lawrence F, Bochud, Murielle, Boehnke, Mike, Bouchard, Claude, Bradfield, Jonathan P, Brody, Jennifer A, Campbell, Archie, Carmi, Shai, Caulfield, Mark J, Cesarini, David, Chambers, John C, Chandak, Giriraj Ratan, Cheng, Ching-Yu, Ciullo, Marina, Cornelis, Marilyn, Cusi, Daniele, Smith, George Davey, Deary, Ian J, Dorajoo, Rajkumar, Van Duijn, Cornelia M, Ellinghaus, David, Erdmann, Jeanette, Eriksson, Johan G, Evangelou, Evangelos, Evans, Michele K, Faul, Jessica D, Feenstra, Bjarke, Feitosa, Mary, Foisy, Sylvain, Franke, Andre, Friedlander, Yechiel, Gasparini, Paolo, Gieger, Christian, Gonzalez, Clicerio, Goyette, Philippe, Grant, Struan FA, Griffiths, Lyn R, Groop, Leif, Gudnason, Vilmundur, Gyllensten, Ulf, Hakonarson, Hakon, Hamsten, Anders, Van Der Harst, Pim, Heng, Chew-Kiat, Hicks, Andrew A, Hochner, Hagit, Huikuri, Heikki, Hunt, Steven C, Jaddoe, Vincent WV, De Jager, Philip L, Johannesson, Magnus, Johansson, Åsa, Jonas, Jost B, Jukema, J Wouter, Junttila, Juhani, Kaprio, Jaakko, Kardia, Sharon LR, Karpe, Fredrik, Kumari, Meena, Laakso, Markku, Van Der Laan, Sander W, Lahti, Jari, Laudes, Matthias, Lea, Rodney A, Lieb, Wolfgang, Lumley, Thomas, Martin, Nicholas G, März, Winfried, Matullo, Giuseppe, McCarthy, Mark I, Medland, Sarah E, Merriman, Tony R, Metspalu, Andres, Meyer, Brian F, Mohlke, Karen L, Montgomery, Grant W, Mook-Kanamori, Dennis, Munroe, Patricia B, North, Kari E, Nyholt, Dale R, O'connell, Jeffery R, Ober, Carole, Oldehinkel, Albertine J, Palmas, Walter, Palmer, Colin, Pasterkamp, Gerard G, Patin, Etienne, Pennell, Craig E, Perusse, Louis, Peyser, Patricia A, Pirastu, Mario, Polderman, Tinca JC, Porteous, David J, Posthuma, Danielle, Psaty, Bruce M, Rioux, John D, Rivadeneira, Fernando, Rotimi, Charles, Rotter, Jerome I, Rudan, Igor, Den Ruijter, Hester M, Sanghera, Dharambir K, Sattar, Naveed, Schmidt, Reinhold, Schulze, Matthias B, Schunkert, Heribert, Scott, Robert A, Shuldiner, Alan R, Sim, Xueling, Small, Neil, Smith, Jennifer A, Sotoodehnia, Nona, Tai, E-Shyong, Teumer, Alexander, Timpson, Nicholas J, Toniolo, Daniela, Tregouet, David-Alexandre, Tuomi, Tiinamaija, Vollenweider, Peter, Wang, Carol A, Weir, David R, Whitfield, John B, Wijmenga, Cisca, Wong, Tien-Yin, Wright, John, Yang, Jingyun, Yu, Lei, Zemel, Babette S, Zonderman, Alan B, Perola, Markus, Magnusson, Patrik KE, Uitterlinden, André G, Kooner, Jaspal S, Chasman, Daniel I, Loos, Ruth JF, Franceschini, Nora, Franke, Lude, Haley, Chris S, Hayward, Caroline, Walters, Robin G, Perry, John RB, Esko, Tōnu, Helgason, Agnar, Stefansson, Kari, Joshi, Peter K, Kubo, Michiaki, and Wilson, James F
Subjects: Consanguinity, Cognition, Fertility, Inbreeding Depression, Risk-Taking, Haplotypes, Health Status, Homozygote, Body Size, Humans, Alleles, 3. Good health
Abstract: In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44-66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.

30. Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women

Author: Steinthorsdottir, Valgerdur, McGinnis, Ralph, Williams, Nicholas O., Stefansdottir, Lilja, Thorleifsson, Gudmar, Shooter, Scott, Fadista, João, Sigurdsson, Jon K., Auro, Kirsi M., Berezina, Galina, Borges, Maria-Carolina, Bumpstead, Suzannah, Bybjerg-Grauholm, Jonas, Colgiu, Irina, Dolby, Vivien A., Dudbridge, Frank, Engel, Stephanie M., Franklin, Christopher S., Frigge, Michael L., Frisbaek, Yr, Geirsson, Reynir T., Geller, Frank, Gretarsdottir, Solveig, Gudbjartsson, Daniel F., Harmon, Quaker, Hougaard, David Michael, Hegay, Tatyana, Helgadottir, Anna, Hjartardottir, Sigrun, Jääskeläinen, Tiina, Johannsdottir, Hrefna, Jonsdottir, Ingileif, Juliusdottir, Thorhildur, Kalsheker, Noor, Kasimov, Abdumadjit, Kemp, John P., Klungsøyr, Kari, Lee, Wai K., Melbye, Mads, Miedzybrodska, Zosia, Moffett, Ashley, Najmutdinova, Dilbar, Nishanova, Firuza, Olafsdottir, Thorunn, Perola, Markus, Poston, Lucilla, Prescott, Gordon, Saevarsdottir, Saedis, Salimbayeva, Damilya, Scaife, Paula Juliet, Skotte, Line, Staines-Urias, Eleonora, Stefansson, Olafur A., Sørensen, Karina Meden, Thomsen, Liv Cecilie Vestrheim, Tragante, Vinicius, Trogstad, Lill, Simpson, Nigel A. B., Aripova, Tamara, Casas, Juan P., Thorsteinsdottir, Unnur, Iversen, Ann-Charlotte, Feenstra, Bjarke, Lawlor, Deborah A., Boyd, Heather Allison, Magnus, Per, Zakhidova, Nodira, Svyatova, Gulnara, Stefansson, Kari, Laivuori, Hannele, Heinonen, Seppo, Kajantie, Eero, Kere, Juha, Kivinen, Katja, Pouta, Anneli, Morgan, Linda, Pipkin, Fiona Broughton, Walker, James J., Macphail, Sheila, Kilby, Mark, Habiba, Marwan, Williamson, Catherine, O’Shaughnessy, Kevin, O’Brien, Shaughn, Cameron, Alan, Redman, Christopher W. G., Farrall, Martin, Caulfield, Mark, and Dominiczak, Anna F.
Subjects: 2. Zero hunger, 45, 692/699/75/243, 631/208/205/2138, 45/43, article, 692/699/2732, 3. Good health
Abstract: Funder: EC | EC Seventh Framework Programm | FP7 Health (FP7-HEALTH - Specific Programme "Cooperation": Health); doi: https://doi.org/10.13039/100011272; Grant(s): 282540, 282540, 282540, 282540, 282540, 282540, 282540, 282540, 282540, 282540, 282540, 282540, 282540, 282540, 282540, 282540, 282540, 282540, 282540, 282540, 282540, 282540, 282540, 282540, 282540, 282540, 282540, Funder: EC | EC Seventh Framework Programm | FP7 Health (FP7-HEALTH - Specific Programme "Cooperation": Health), Funder: U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Preeclampsia is a serious complication of pregnancy, affecting both maternal and fetal health. In genome-wide association meta-analysis of European and Central Asian mothers, we identify sequence variants that associate with preeclampsia in the maternal genome at ZNF831/20q13 and FTO/16q12. These are previously established variants for blood pressure (BP) and the FTO variant has also been associated with body mass index (BMI). Further analysis of BP variants establishes that variants at MECOM/3q26, FGF5/4q21 and SH2B3/12q24 also associate with preeclampsia through the maternal genome. We further show that a polygenic risk score for hypertension associates with preeclampsia. However, comparison with gestational hypertension indicates that additional factors modify the risk of preeclampsia.

31. Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women

Author: Steinthorsdottir, Valgerdur, McGinnis, Ralph, Williams, Nicholas O, Stefansdottir, Lilja, Thorleifsson, Gudmar, Shooter, Scott, Fadista, João, Sigurdsson, Jon K, Auro, Kirsi M, Berezina, Galina, Borges, Maria-Carolina, Bumpstead, Suzannah, Bybjerg-Grauholm, Jonas, Colgiu, Irina, Dolby, Vivien A, Dudbridge, Frank, Engel, Stephanie M, Franklin, Christopher S, Frigge, Michael L, Frisbaek, Yr, Geirsson, Reynir T, Geller, Frank, Gretarsdottir, Solveig, Gudbjartsson, Daniel F, Harmon, Quaker, Hougaard, David Michael, Hegay, Tatyana, Helgadottir, Anna, Hjartardottir, Sigrun, Jääskeläinen, Tiina, Johannsdottir, Hrefna, Jonsdottir, Ingileif, Juliusdottir, Thorhildur, Kalsheker, Noor, Kasimov, Abdumadjit, Kemp, John P, Kivinen, Katja, Klungsøyr, Kari, Lee, Wai K, Melbye, Mads, Miedzybrodska, Zosia, Moffett, Ashley, Najmutdinova, Dilbar, Nishanova, Firuza, Olafsdottir, Thorunn, Perola, Markus, Pipkin, Fiona Broughton, Poston, Lucilla, Prescott, Gordon, Saevarsdottir, Saedis, Salimbayeva, Damilya, Scaife, Paula Juliet, Skotte, Line, Staines-Urias, Eleonora, Stefansson, Olafur A, Sørensen, Karina Meden, Thomsen, Liv Cecilie Vestrheim, Tragante, Vinicius, Trogstad, Lill, Simpson, Nigel AB, FINNPEC Consortium, GOPEC Consortium, Aripova, Tamara, Casas, Juan P, Dominiczak, Anna F, Walker, James J, Thorsteinsdottir, Unnur, Iversen, Ann-Charlotte, Feenstra, Bjarke, Lawlor, Deborah A, Boyd, Heather Allison, Magnus, Per, Laivuori, Hannele, Zakhidova, Nodira, Svyatova, Gulnara, Stefansson, Kari, and Morgan, Linda
Subjects: Adult, Multifactorial Inheritance, Fibroblast Growth Factor 5, Alpha-Ketoglutarate-Dependent Dioxygenase FTO, Datasets as Topic, Blood Pressure, Pre-Eclampsia, Pregnancy, Humans, Genetic Predisposition to Disease, Prospective Studies, reproductive and urinary physiology, Adaptor Proteins, Signal Transducing, Aged, 2. Zero hunger, Hypertension, Pregnancy-Induced, Middle Aged, female genital diseases and pregnancy complications, MDS1 and EVI1 Complex Locus Protein, 3. Good health, Europe, Genetic Loci, Case-Control Studies, embryonic structures, Asia, Central, Female, Genome-Wide Association Study
Abstract: Preeclampsia is a serious complication of pregnancy, affecting both maternal and fetal health. In genome-wide association meta-analysis of European and Central Asian mothers, we identify sequence variants that associate with preeclampsia in the maternal genome at ZNF831/20q13 and FTO/16q12. These are previously established variants for blood pressure (BP) and the FTO variant has also been associated with body mass index (BMI). Further analysis of BP variants establishes that variants at MECOM/3q26, FGF5/4q21 and SH2B3/12q24 also associate with preeclampsia through the maternal genome. We further show that a polygenic risk score for hypertension associates with preeclampsia. However, comparison with gestational hypertension indicates that additional factors modify the risk of preeclampsia.

32. Associations of autozygosity with a broad range of human phenotypes

Author: Clark, David W, Okada, Yukinori, Moore, Kristjan H S, Mason, Dan, Pirastu, Nicola, Gandin, Ilaria, Mattsson, Hannele, Barnes, Catriona L K, Lin, Kuang, Zhao, Jing Hua, Deelen, Patrick, Rohde, Rebecca, Schurmann, Claudia, Guo, Xiuqing, Giulianini, Franco, Zhang, Weihua, Medina-Gomez, Carolina, Karlsson, Robert, Bao, Yanchun, Bartz, Traci M, Baumbach, Clemens, Biino, Ginevra, Bixley, Matthew J, Brumat, Marco, Chai, Jin-Fang, Corre, Tanguy, Cousminer, Diana L, Dekker, Annelot M, Eccles, David A, Van Eijk, Kristel R, Fuchsberger, Christian, Gao, He, Germain, Marine, Gordon, Scott D, De Haan, Hugoline G, Harris, Sarah E, Hofer, Edith, Huerta-Chagoya, Alicia, Igartua, Catherine, Jansen, Iris E, Jia, Yucheng, Kacprowski, Tim, Karlsson, Torgny, Kleber, Marcus E, Li, Shengchao Alfred, Li-Gao, Ruifang, Mahajan, Anubha, Matsuda, Koichi, Meidtner, Karina, Meng, Weihua, Montasser, May E, Van Der Most, Peter J, Munz, Matthias, Nutile, Teresa, Palviainen, Teemu, Prasad, Gauri, Prasad, Rashmi B, Priyanka, Tallapragada Divya Sri, Rizzi, Federica, Salvi, Erika, Sapkota, Bishwa R, Shriner, Daniel, Skotte, Line, Smart, Melissa C, Smith, Albert Vernon, Van Der Spek, Ashley, Spracklen, Cassandra N, Strawbridge, Rona J, Tajuddin, Salman M, Trompet, Stella, Turman, Constance, Verweij, Niek, Viberti, Clara, Wang, Lihua, Warren, Helen R, Wootton, Robyn E, Yanek, Lisa R, Yao, Jie, Yousri, Noha A, Zhao, Wei, Adeyemo, Adebowale A, Afaq, Saima, Aguilar-Salinas, Carlos Alberto, Akiyama, Masato, Albert, Matthew L, Allison, Matthew A, Alver, Maris, Aung, Tin, Azizi, Fereidoun, Bentley, Amy R, Boeing, Heiner, Boerwinkle, Eric, Borja, Judith B, De Borst, Gert J, Bottinger, Erwin P, Broer, Linda, Campbell, Harry, Chanock, Stephen, Chee, Miao-Li, Chen, Guanjie, Chen, Yii-Der I, Chen, Zhengming, Chiu, Yen-Feng, Cocca, Massimiliano, Collins, Francis S, Concas, Maria Pina, Corley, Janie, Cugliari, Giovanni, Van Dam, Rob M, Damulina, Anna, Daneshpour, Maryam S, Day, Felix R, Delgado, Graciela E, Dhana, Klodian, Doney, Alexander S F, Dörr, Marcus, Doumatey, Ayo P, Dzimiri, Nduna, Ebenesersdóttir, S Sunna, Elliott, Joshua, Elliott, Paul, Ewert, Ralf, Felix, Janine F, Fischer, Krista, Freedman, Barry I, Girotto, Giorgia, Goel, Anuj, Gögele, Martin, Goodarzi, Mark O, Graff, Mariaelisa, Granot-Hershkovitz, Einat, Grodstein, Francine, Guarrera, Simonetta, Gudbjartsson, Daniel F, Guity, Kamran, Gunnarsson, Bjarni, Guo, Yu, Hagenaars, Saskia P, Haiman, Christopher A, Halevy, Avner, Harris, Tamara B, Hedayati, Mehdi, Van Heel, David A, Hirata, Makoto, Höfer, Imo, Hsiung, Chao Agnes, Huang, Jinyan, Hung, Yi-Jen, Ikram, M Arfan, Jagadeesan, Anuradha, Jousilahti, Pekka, Kamatani, Yoichiro, Kanai, Masahiro, Kerrison, Nicola D, Kessler, Thorsten, Khaw, Kay-Tee, Khor, Chiea Chuen, De Kleijn, Dominique P V, Koh, Woon-Puay, Kolcic, Ivana, Kraft, Peter, Krämer, Bernhard K, Kutalik, Zoltán, Kuusisto, Johanna, Langenberg, Claudia, Launer, Lenore J, Lawlor, Deborah A, Lee, I-Te, Lee, Wen-Jane, Lerch, Markus M, Li, Liming, Liu, Jianjun, Loh, Marie, London, Stephanie J, Loomis, Stephanie, Lu, Yingchang, Luan, Jian'an, Mägi, Reedik, Manichaikul, Ani W, Manunta, Paolo, Másson, Gísli, Matoba, Nana, Mei, Xue W, Meisinger, Christa, Meitinger, Thomas, Mezzavilla, Massimo, Milani, Lili, Millwood, Iona Y, Momozawa, Yukihide, Moore, Amy, Morange, Pierre-Emmanuel, Moreno-Macías, Hortensia, Mori, Trevor A, Morrison, Alanna C, Muka, Taulant, Murakami, Yoshinori, Murray, Alison D, De Mutsert, Renée, Mychaleckyj, Josyf C, Nalls, Mike A, Nauck, Matthias, Neville, Matt J, Nolte, Ilja M, Ong, Ken K, Orozco, Lorena, Padmanabhan, Sandosh, Pálsson, Gunnar, Pankow, James S, Pattaro, Cristian, Pattie, Alison, Polasek, Ozren, Poulter, Neil, Pramstaller, Peter P, Quintana-Murci, Lluis, Räikkönen, Katri, Ralhan, Sarju, Rao, Dabeeru C, Van Rheenen, Wouter, Rich, Stephen S, Ridker, Paul M, Rietveld, Cornelius A, Robino, Antonietta, Van Rooij, Frank J A, Ruggiero, Daniela, Saba, Yasaman, Sabanayagam, Charumathi, Sabater-Lleal, Maria, Sala, Cinzia Felicita, Salomaa, Veikko, Sandow, Kevin, Schmidt, Helena, Scott, Laura J, Scott, William R, Sedaghati-Khayat, Bahareh, Sennblad, Bengt, Van Setten, Jessica, Sever, Peter J, Sheu, Wayne H-H, Shi, Yuan, Shrestha, Smeeta, Shukla, Sharvari Rahul, Sigurdsson, Jon K, Sikka, Timo Tonis, Singh, Jai Rup, Smith, Blair H, Stančáková, Alena, Stanton, Alice, Starr, John M, Stefansdottir, Lilja, Straker, Leon, Sulem, Patrick, Sveinbjornsson, Gardar, Swertz, Morris A, Taylor, Adele M, Taylor, Kent D, Terzikhan, Natalie, Tham, Yih-Chung, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tillander, Annika, Tracy, Russell P, Tusié-Luna, Teresa, Tzoulaki, Ioanna, Vaccargiu, Simona, Vangipurapu, Jagadish, Veldink, Jan H, Vitart, Veronique, Völker, Uwe, Vuoksimaa, Eero, Wakil, Salma M, Waldenberger, Melanie, Wander, Gurpreet S, Wang, Ya Xing, Wareham, Nicholas J, Wild, Sarah, Yajnik, Chittaranjan S, Yuan, Jian-Min, Zeng, Lingyao, Zhang, Liang, Zhou, Jie, Amin, Najaf, Asselbergs, Folkert W, Bakker, Stephan J L, Becker, Diane M, Lehne, Benjamin, Bennett, David A, Van Den Berg, Leonard H, Berndt, Sonja I, Bharadwaj, Dwaipayan, Bielak, Lawrence F, Bochud, Murielle, Boehnke, Mike, Bouchard, Claude, Bradfield, Jonathan P, Brody, Jennifer A, Campbell, Archie, Carmi, Shai, Caulfield, Mark J, Cesarini, David, Chambers, John C, Chandak, Giriraj Ratan, Cheng, Ching-Yu, Ciullo, Marina, Cornelis, Marilyn, Cusi, Daniele, Smith, George Davey, Deary, Ian J, Dorajoo, Rajkumar, Van Duijn, Cornelia M, Ellinghaus, David, Erdmann, Jeanette, Eriksson, Johan G, Evangelou, Evangelos, Evans, Michele K, Faul, Jessica D, Feenstra, Bjarke, Feitosa, Mary, Foisy, Sylvain, Franke, Andre, Friedlander, Yechiel, Gasparini, Paolo, Gieger, Christian, Gonzalez, Clicerio, Goyette, Philippe, Grant, Struan F A, Griffiths, Lyn R, Groop, Leif, Gudnason, Vilmundur, Gyllensten, Ulf, Hakonarson, Hakon, Hamsten, Anders, Van Der Harst, Pim, Heng, Chew-Kiat, Hicks, Andrew A, Hochner, Hagit, Huikuri, Heikki, Hunt, Steven C, Jaddoe, Vincent W V, De Jager, Philip L, Johannesson, Magnus, Johansson, Åsa, Jonas, Jost B, Jukema, J Wouter, Junttila, Juhani, Kaprio, Jaakko, Kardia, Sharon L R, Karpe, Fredrik, Kumari, Meena, Laakso, Markku, Van Der Laan, Sander W, Lahti, Jari, Laudes, Matthias, Lea, Rodney A, Lieb, Wolfgang, Lumley, Thomas, Martin, Nicholas G, März, Winfried, Matullo, Giuseppe, McCarthy, Mark I, Medland, Sarah E, Merriman, Tony R, Metspalu, Andres, Meyer, Brian F, Mohlke, Karen L, Montgomery, Grant W, Mook-Kanamori, Dennis, Munroe, Patricia B, North, Kari E, Nyholt, Dale R, O'connell, Jeffery R, Ober, Carole, Oldehinkel, Albertine J, Palmas, Walter, Palmer, Colin, Pasterkamp, Gerard G, Patin, Etienne, Pennell, Craig E, Perusse, Louis, Peyser, Patricia A, Pirastu, Mario, Polderman, Tinca J C, Porteous, David J, Posthuma, Danielle, Psaty, Bruce M, Rioux, John D, Rivadeneira, Fernando, Rotimi, Charles, Rotter, Jerome I, Rudan, Igor, Den Ruijter, Hester M, Sanghera, Dharambir K, Sattar, Naveed, Schmidt, Reinhold, Schulze, Matthias B, Schunkert, Heribert, Scott, Robert A, Shuldiner, Alan R, Sim, Xueling, Small, Neil, Smith, Jennifer A, Sotoodehnia, Nona, Tai, E-Shyong, Teumer, Alexander, Timpson, Nicholas J, Toniolo, Daniela, Tregouet, David-Alexandre, Tuomi, Tiinamaija, Vollenweider, Peter, Wang, Carol A, Weir, David R, Whitfield, John B, Wijmenga, Cisca, Wong, Tien-Yin, Wright, John, Yang, Jingyun, Yu, Lei, Zemel, Babette S, Zonderman, Alan B, Perola, Markus, Magnusson, Patrik K E, Uitterlinden, André G, Kooner, Jaspal S, Chasman, Daniel I, Loos, Ruth J F, Franceschini, Nora, Franke, Lude, Haley, Chris S, Hayward, Caroline, Walters, Robin G, Perry, John R B, Esko, Tōnu, Helgason, Agnar, Stefansson, Kari, Joshi, Peter K, Kubo, Michiaki, and Wilson, James F
Subjects: 610 Medicine & health, 360 Social problems & social services, 3. Good health
Abstract: In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p

33. Associations of autozygosity with a broad range of human phenotypes

Author: Clark, David W, Okada, Yukinori, Moore, Kristjan H S, Mason, Dan, Pirastu, Nicola, Gandin, Ilaria, Mattsson, Hannele, Barnes, Catriona L K, Lin, Kuang, Zhao, Jing Hua, Deelen, Patrick, Rohde, Rebecca, Schurmann, Claudia, Guo, Xiuqing, Giulianini, Franco, Zhang, Weihua, Medina-Gomez, Carolina, Karlsson, Robert, Bao, Yanchun, Bartz, Traci M, Baumbach, Clemens, Biino, Ginevra, Bixley, Matthew J, Brumat, Marco, Chai, Jin-Fang, Corre, Tanguy, Cousminer, Diana L, Dekker, Annelot M, Eccles, David A, Van Eijk, Kristel R, Fuchsberger, Christian, Gao, He, Germain, Marine, Gordon, Scott D, De Haan, Hugoline G, Harris, Sarah E, Hofer, Edith, Huerta-Chagoya, Alicia, Igartua, Catherine, Jansen, Iris E, Jia, Yucheng, Kacprowski, Tim, Karlsson, Torgny, Kleber, Marcus E, Li, Shengchao Alfred, Li-Gao, Ruifang, Mahajan, Anubha, Matsuda, Koichi, Meidtner, Karina, Meng, Weihua, Montasser, May E, Van Der Most, Peter J, Munz, Matthias, Nutile, Teresa, Palviainen, Teemu, Prasad, Gauri, Prasad, Rashmi B, Priyanka, Tallapragada Divya Sri, Rizzi, Federica, Salvi, Erika, Sapkota, Bishwa R, Shriner, Daniel, Skotte, Line, Smart, Melissa C, Smith, Albert Vernon, Van Der Spek, Ashley, Spracklen, Cassandra N, Strawbridge, Rona J, Tajuddin, Salman M, Trompet, Stella, Turman, Constance, Verweij, Niek, Viberti, Clara, Wang, Lihua, Warren, Helen R, Wootton, Robyn E, Yanek, Lisa R, Yao, Jie, Yousri, Noha A, Zhao, Wei, Adeyemo, Adebowale A, Afaq, Saima, Aguilar-Salinas, Carlos Alberto, Akiyama, Masato, Albert, Matthew L, Allison, Matthew A, Alver, Maris, Aung, Tin, Azizi, Fereidoun, Bentley, Amy R, Boeing, Heiner, Boerwinkle, Eric, Borja, Judith B, De Borst, Gert J, Bottinger, Erwin P, Broer, Linda, Campbell, Harry, Chanock, Stephen, Chee, Miao-Li, Chen, Guanjie, Chen, Yii-Der I, Chen, Zhengming, Chiu, Yen-Feng, Cocca, Massimiliano, Collins, Francis S, Concas, Maria Pina, Corley, Janie, Cugliari, Giovanni, Van Dam, Rob M, Damulina, Anna, Daneshpour, Maryam S, Day, Felix R, Delgado, Graciela E, Dhana, Klodian, Doney, Alexander S F, Dörr, Marcus, Doumatey, Ayo P, Dzimiri, Nduna, Ebenesersdóttir, S Sunna, Elliott, Joshua, Elliott, Paul, Ewert, Ralf, Felix, Janine F, Fischer, Krista, Freedman, Barry I, Girotto, Giorgia, Goel, Anuj, Gögele, Martin, Goodarzi, Mark O, Graff, Mariaelisa, Granot-Hershkovitz, Einat, Grodstein, Francine, Guarrera, Simonetta, Gudbjartsson, Daniel F, Guity, Kamran, Gunnarsson, Bjarni, Guo, Yu, Hagenaars, Saskia P, Haiman, Christopher A, Halevy, Avner, Harris, Tamara B, Hedayati, Mehdi, Van Heel, David A, Hirata, Makoto, Höfer, Imo, Hsiung, Chao Agnes, Huang, Jinyan, Hung, Yi-Jen, Ikram, M Arfan, Jagadeesan, Anuradha, Jousilahti, Pekka, Kamatani, Yoichiro, Kanai, Masahiro, Kerrison, Nicola D, Kessler, Thorsten, Khaw, Kay-Tee, Khor, Chiea Chuen, De Kleijn, Dominique P V, Koh, Woon-Puay, Kolcic, Ivana, Kraft, Peter, Krämer, Bernhard K, Kutalik, Zoltán, Kuusisto, Johanna, Langenberg, Claudia, Launer, Lenore J, Lawlor, Deborah A, Lee, I-Te, Lee, Wen-Jane, Lerch, Markus M, Li, Liming, Liu, Jianjun, Loh, Marie, London, Stephanie J, Loomis, Stephanie, Lu, Yingchang, Luan, Jian’an, Mägi, Reedik, Manichaikul, Ani W, Manunta, Paolo, Másson, Gísli, Matoba, Nana, Mei, Xue W, Meisinger, Christa, Meitinger, Thomas, Mezzavilla, Massimo, Milani, Lili, Millwood, Iona Y, Momozawa, Yukihide, Moore, Amy, Morange, Pierre-Emmanuel, Moreno-Macías, Hortensia, Mori, Trevor A, Morrison, Alanna C, Muka, Taulant, Murakami, Yoshinori, Murray, Alison D, De Mutsert, Renée, Mychaleckyj, Josyf C, Nalls, Mike A, Nauck, Matthias, Neville, Matt J, Nolte, Ilja M, Ong, Ken K, Orozco, Lorena, Padmanabhan, Sandosh, Pálsson, Gunnar, Pankow, James S, Pattaro, Cristian, Pattie, Alison, Polasek, Ozren, Poulter, Neil, Pramstaller, Peter P, Quintana-Murci, Lluis, Räikkönen, Katri, Ralhan, Sarju, Rao, Dabeeru C, Van Rheenen, Wouter, Rich, Stephen S, Ridker, Paul M, Rietveld, Cornelius A, Robino, Antonietta, Van Rooij, Frank J A, Ruggiero, Daniela, Saba, Yasaman, Sabanayagam, Charumathi, Sabater-Lleal, Maria, Sala, Cinzia Felicita, Salomaa, Veikko, Sandow, Kevin, Schmidt, Helena, Scott, Laura J, Scott, William R, Sedaghati-Khayat, Bahareh, Sennblad, Bengt, Van Setten, Jessica, Sever, Peter J, Sheu, Wayne H-H, Shi, Yuan, Shrestha, Smeeta, Shukla, Sharvari Rahul, Sigurdsson, Jon K, Sikka, Timo Tonis, Singh, Jai Rup, Smith, Blair H, Stančáková, Alena, Stanton, Alice, Starr, John M, Stefansdottir, Lilja, Straker, Leon, Sulem, Patrick, Sveinbjornsson, Gardar, Swertz, Morris A, Taylor, Adele M, Taylor, Kent D, Terzikhan, Natalie, Tham, Yih-Chung, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tillander, Annika, Tracy, Russell P, Tusié-Luna, Teresa, Tzoulaki, Ioanna, Vaccargiu, Simona, Vangipurapu, Jagadish, Veldink, Jan H, Vitart, Veronique, Völker, Uwe, Vuoksimaa, Eero, Wakil, Salma M, Waldenberger, Melanie, Wander, Gurpreet S, Wang, Ya Xing, Wareham, Nicholas J, Wild, Sarah, Yajnik, Chittaranjan S, Yuan, Jian-Min, Zeng, Lingyao, Zhang, Liang, Zhou, Jie, Amin, Najaf, Asselbergs, Folkert W, Bakker, Stephan J L, Becker, Diane M, Lehne, Benjamin, Bennett, David A, Van Den Berg, Leonard H, Berndt, Sonja I, Bharadwaj, Dwaipayan, Bielak, Lawrence F, Bochud, Murielle, Boehnke, Mike, Bouchard, Claude, Bradfield, Jonathan P, Brody, Jennifer A, Campbell, Archie, Carmi, Shai, Caulfield, Mark J, Cesarini, David, Chambers, John C, Chandak, Giriraj Ratan, Cheng, Ching-Yu, Ciullo, Marina, Cornelis, Marilyn, Cusi, Daniele, Smith, George Davey, Deary, Ian J, Dorajoo, Rajkumar, Van Duijn, Cornelia M, Ellinghaus, David, Erdmann, Jeanette, Eriksson, Johan G, Evangelou, Evangelos, Evans, Michele K, Faul, Jessica D, Feenstra, Bjarke, Feitosa, Mary, Foisy, Sylvain, Franke, Andre, Friedlander, Yechiel, Gasparini, Paolo, Gieger, Christian, Gonzalez, Clicerio, Goyette, Philippe, Grant, Struan F A, Griffiths, Lyn R, Groop, Leif, Gudnason, Vilmundur, Gyllensten, Ulf, Hakonarson, Hakon, Hamsten, Anders, Van Der Harst, Pim, Heng, Chew-Kiat, Hicks, Andrew A, Hochner, Hagit, Huikuri, Heikki, Hunt, Steven C, Jaddoe, Vincent W V, De Jager, Philip L, Johannesson, Magnus, Johansson, Åsa, Jonas, Jost B, Jukema, J Wouter, Junttila, Juhani, Kaprio, Jaakko, Kardia, Sharon L. R., Karpe, Fredrik, Kumari, Meena, Laakso, Markku, Van Der Laan, Sander W, Lahti, Jari, Laudes, Matthias, Lea, Rodney A, Lieb, Wolfgang, Lumley, Thomas, Martin, Nicholas G, März, Winfried, Matullo, Giuseppe, McCarthy, Mark I, Medland, Sarah E, Merriman, Tony R, Metspalu, Andres, Meyer, Brian F, Mohlke, Karen L, Montgomery, Grant W, Mook-Kanamori, Dennis, Munroe, Patricia B, North, Kari E, Nyholt, Dale R, O’connell, Jeffery R, Ober, Carole, Oldehinkel, Albertine J, Palmas, Walter, Palmer, Colin, Pasterkamp, Gerard G, Patin, Etienne, Pennell, Craig E, Perusse, Louis, Peyser, Patricia A, Pirastu, Mario, Polderman, Tinca J. C., Porteous, David J, Posthuma, Danielle, Psaty, Bruce M, Rioux, John D, Rivadeneira, Fernando, Rotimi, Charles, Rotter, Jerome I, Rudan, Igor, Den Ruijter, Hester M, Sanghera, Dharambir K, Sattar, Naveed, Schmidt, Reinhold, Schulze, Matthias B, Schunkert, Heribert, Scott, Robert A, Shuldiner, Alan R, Sim, Xueling, Small, Neil, Smith, Jennifer A, Sotoodehnia, Nona, Tai, E-Shyong, Teumer, Alexander, Timpson, Nicholas J, Toniolo, Daniela, Tregouet, David-Alexandre, Tuomi, Tiinamaija, Vollenweider, Peter, Wang, Carol A, Weir, David R, Whitfield, John B, Wijmenga, Cisca, Wong, Tien-Yin, Wright, John, Yang, Jingyun, Yu, Lei, Zemel, Babette S, Zonderman, Alan B, Perola, Markus, Magnusson, Patrik K. E., Uitterlinden, André G, Kooner, Jaspal S, Chasman, Daniel I, Loos, Ruth J. F., Franceschini, Nora, Franke, Lude, Haley, Chris S, Hayward, Caroline, Walters, Robin G, Perry, John R. B., Esko, Tōnu, Helgason, Agnar, Stefansson, Kari, Joshi, Peter K, Kubo, Michiaki, and Wilson, James F
Subjects: 631/208/1397, 631/208/730, article, 631/208/205, 631/208/721, 3. Good health
Abstract: In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.

34. Variants in the fetal genome near FLT1 are associated with risk of preeclampsia

Author: Williams, Nicholas O., Hildyard, Lucy, Casas, Juan P., McGinnis, Ralph, Lee, Wai Kwong, Pipkin, Fiona Broughton, Hjartardottir, Sigrun, Simpson, Nigel A.B., Kemp, John P., Silva, Gabriela B., Kalsheker, Noor, Zakhidova, Nodira, Chappell, Sally, Staines-Urias, Eleonora, Bumpstead, Suzannah, Stefansdottir, Lilja, Thorleifsson, Gudmar, Walker, James J., Moffett, Ashley, Padmanabhan, Sandosh, Lawlor, Debbie A., Morgan, Linda, Trogstad, Lill, Gjessing, Håkon K., Thomsen, Liv Cecilie V., Iversen, Ann-Charlotte, Geirsson, Reynir T., Kajantie, Eero, Laivuori, Hannele, Steinthorsdottir, Valgerdur, Magnus, Per, Svyatova, Gulnara, Stefansson, Kari, Jääskeläinen, Tiina, Engel, Stephanie M., Dudbridge, Frank, Najmutdinova, Dilbar, Sigurdsson, Jon K., Haugan, Anita, Dominiczak, Anna F., Thorsteinsdottir, Unnur, Dolby, Vivien A., Hiby, Susan, and Shooter, Scott
Subjects: embryonic structures, female genital diseases and pregnancy complications, reproductive and urinary physiology, 3. Good health
Abstract: Preeclampsia, which affects approximately 5% of pregnancies, is a leading cause of maternal and perinatal death. The causes of preeclampsia remain unclear, but there is evidence for inherited susceptibility. Genome-wide association studies (GWAS) have not identified maternal sequence variants of genome-wide significance that replicate in independent data sets. We report the first GWAS of offspring from preeclamptic pregnancies and discovery of the first genome-wide significant susceptibility locus (rs4769613; P = 5.4 × 10(-11)) in 4,380 cases and 310,238 controls. This locus is near the FLT1 gene encoding Fms-like tyrosine kinase 1, providing biological support, as a placental isoform of this protein (sFlt-1) is implicated in the pathology of preeclampsia. The association was strongest in offspring from pregnancies in which preeclampsia developed during late gestation and offspring birth weights exceeded the tenth centile. An additional nearby variant, rs12050029, associated with preeclampsia independently of rs4769613. The newly discovered locus may enhance understanding of the pathophysiology of preeclampsia and its subtypes.

35. Genetic insight into sick sinus syndrome.

Author: Thorolfsdottir RB, Sveinbjornsson G, Aegisdottir HM, Benonisdottir S, Stefansdottir L, Ivarsdottir EV, Halldorsson GH, Sigurdsson JK, Torp-Pedersen C, Weeke PE, Brunak S, Westergaard D, Pedersen OB, Sorensen E, Nielsen KR, Burgdorf KS, Banasik K, Brumpton B, Zhou W, Oddsson A, Tragante V, Hjorleifsson KE, Davidsson OB, Rajamani S, Jonsson S, Torfason B, Valgardsson AS, Thorgeirsson G, Frigge ML, Thorleifsson G, Norddahl GL, Helgadottir A, Gretarsdottir S, Sulem P, Jonsdottir I, Willer CJ, Hveem K, Bundgaard H, Ullum H, Arnar DO, Thorsteinsdottir U, Gudbjartsson DF, Holm H, and Stefansson K
Subjects: Genome-Wide Association Study, Humans, NAV1.8 Voltage-Gated Sodium Channel, Sick Sinus Syndrome genetics, Atrial Fibrillation genetics, Diabetes Mellitus, Type 2, Pacemaker, Artificial
Abstract: Aims: The aim of this study was to use human genetics to investigate the pathogenesis of sick sinus syndrome (SSS) and the role of risk factors in its development., Methods and Results: We performed a genome-wide association study of 6469 SSS cases and 1 000 187 controls from deCODE genetics, the Copenhagen Hospital Biobank, UK Biobank, and the HUNT study. Variants at six loci associated with SSS, a reported missense variant in MYH6, known atrial fibrillation (AF)/electrocardiogram variants at PITX2, ZFHX3, TTN/CCDC141, and SCN10A and a low-frequency (MAF = 1.1-1.8%) missense variant, p.Gly62Cys in KRT8 encoding the intermediate filament protein keratin 8. A full genotypic model best described the p.Gly62Cys association (P = 1.6 × 10-20), with an odds ratio (OR) of 1.44 for heterozygotes and a disproportionally large OR of 13.99 for homozygotes. All the SSS variants increased the risk of pacemaker implantation. Their association with AF varied and p.Gly62Cys was the only variant not associating with any other arrhythmia or cardiovascular disease. We tested 17 exposure phenotypes in polygenic score (PGS) and Mendelian randomization analyses. Only two associated with the risk of SSS in Mendelian randomization, AF, and lower heart rate, suggesting causality. Powerful PGS analyses provided convincing evidence against causal associations for body mass index, cholesterol, triglycerides, and type 2 diabetes (P > 0.05)., Conclusion: We report the associations of variants at six loci with SSS, including a missense variant in KRT8 that confers high risk in homozygotes and points to a mechanism specific to SSS development. Mendelian randomization supports a causal role for AF in the development of SSS., (© The Author(s) 2021. Published by Oxford University Press on behalf of the European Society of Cardiology.)
Published: 2021
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36. A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.

Author: Bell S, Rigas AS, Magnusson MK, Ferkingstad E, Allara E, Bjornsdottir G, Ramond A, Sørensen E, Halldorsson GH, Paul DS, Burgdorf KS, Eggertsson HP, Howson JMM, Thørner LW, Kristmundsdottir S, Astle WJ, Erikstrup C, Sigurdsson JK, Vuckovic D, Dinh KM, Tragante V, Surendran P, Pedersen OB, Vidarsson B, Jiang T, Paarup HM, Onundarson PT, Akbari P, Nielsen KR, Lund SH, Juliusson K, Magnusson MI, Frigge ML, Oddsson A, Olafsson I, Kaptoge S, Hjalgrim H, Runarsson G, Wood AM, Jonsdottir I, Hansen TF, Sigurdardottir O, Stefansson H, Rye D, Peters JE, Westergaard D, Holm H, Soranzo N, Banasik K, Thorleifsson G, Ouwehand WH, Thorsteinsdottir U, Roberts DJ, Sulem P, Butterworth AS, Gudbjartsson DF, Danesh J, Brunak S, Di Angelantonio E, Ullum H, and Stefansson K
Subjects: Humans, Biomarkers blood, Denmark, Ferritins blood, Genome-Wide Association Study, Genotype, Homeostasis, Iceland, Phenotype, Risk Assessment, Risk Factors, Transferrin metabolism, United Kingdom, Anemia, Iron-Deficiency blood, Anemia, Iron-Deficiency diagnosis, Anemia, Iron-Deficiency genetics, Genetic Loci, Genetic Variation, Iron blood, Iron Overload blood, Iron Overload diagnosis, Iron Overload genetics
Abstract: Iron is essential for many biological functions and iron deficiency and overload have major health implications. We performed a meta-analysis of three genome-wide association studies from Iceland, the UK and Denmark of blood levels of ferritin (N = 246,139), total iron binding capacity (N = 135,430), iron (N = 163,511) and transferrin saturation (N = 131,471). We found 62 independent sequence variants associating with iron homeostasis parameters at 56 loci, including 46 novel loci. Variants at DUOX2, F5, SLC11A2 and TMPRSS6 associate with iron deficiency anemia, while variants at TF, HFE, TFR2 and TMPRSS6 associate with iron overload. A HBS1L-MYB intergenic region variant associates both with increased risk of iron overload and reduced risk of iron deficiency anemia. The DUOX2 missense variant is present in 14% of the population, associates with all iron homeostasis biomarkers, and increases the risk of iron deficiency anemia by 29%. The associations implicate proteins contributing to the main physiological processes involved in iron homeostasis: iron sensing and storage, inflammation, absorption of iron from the gut, iron recycling, erythropoiesis and bleeding/menstruation.
Published: 2021
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37. Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women.

Author: Steinthorsdottir V, McGinnis R, Williams NO, Stefansdottir L, Thorleifsson G, Shooter S, Fadista J, Sigurdsson JK, Auro KM, Berezina G, Borges MC, Bumpstead S, Bybjerg-Grauholm J, Colgiu I, Dolby VA, Dudbridge F, Engel SM, Franklin CS, Frigge ML, Frisbaek Y, Geirsson RT, Geller F, Gretarsdottir S, Gudbjartsson DF, Harmon Q, Hougaard DM, Hegay T, Helgadottir A, Hjartardottir S, Jääskeläinen T, Johannsdottir H, Jonsdottir I, Juliusdottir T, Kalsheker N, Kasimov A, Kemp JP, Kivinen K, Klungsøyr K, Lee WK, Melbye M, Miedzybrodska Z, Moffett A, Najmutdinova D, Nishanova F, Olafsdottir T, Perola M, Pipkin FB, Poston L, Prescott G, Saevarsdottir S, Salimbayeva D, Scaife PJ, Skotte L, Staines-Urias E, Stefansson OA, Sørensen KM, Thomsen LCV, Tragante V, Trogstad L, Simpson NAB, Aripova T, Casas JP, Dominiczak AF, Walker JJ, Thorsteinsdottir U, Iversen AC, Feenstra B, Lawlor DA, Boyd HA, Magnus P, Laivuori H, Zakhidova N, Svyatova G, Stefansson K, and Morgan L
Subjects: Adaptor Proteins, Signal Transducing genetics, Adult, Aged, Alpha-Ketoglutarate-Dependent Dioxygenase FTO genetics, Asia, Central epidemiology, Blood Pressure genetics, Case-Control Studies, Datasets as Topic, Europe epidemiology, Female, Fibroblast Growth Factor 5 genetics, Genetic Loci genetics, Genome-Wide Association Study, Humans, Hypertension, Pregnancy-Induced epidemiology, MDS1 and EVI1 Complex Locus Protein genetics, Middle Aged, Pre-Eclampsia epidemiology, Pregnancy, Prospective Studies, Genetic Predisposition to Disease, Hypertension, Pregnancy-Induced genetics, Multifactorial Inheritance, Pre-Eclampsia genetics
Abstract: Preeclampsia is a serious complication of pregnancy, affecting both maternal and fetal health. In genome-wide association meta-analysis of European and Central Asian mothers, we identify sequence variants that associate with preeclampsia in the maternal genome at ZNF831/20q13 and FTO/16q12. These are previously established variants for blood pressure (BP) and the FTO variant has also been associated with body mass index (BMI). Further analysis of BP variants establishes that variants at MECOM/3q26, FGF5/4q21 and SH2B3/12q24 also associate with preeclampsia through the maternal genome. We further show that a polygenic risk score for hypertension associates with preeclampsia. However, comparison with gestational hypertension indicates that additional factors modify the risk of preeclampsia.
Published: 2020
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38. Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin.

Author: Rafnar T, Sigurjonsdottir GR, Stacey SN, Halldorsson G, Sulem P, Pardo LM, Helgason H, Sigurdsson ST, Gudjonsson T, Tryggvadottir L, Olafsdottir GH, Jonasson JG, Alexiusdottir K, Sigurdsson A, Gudmundsson J, Saemundsdottir J, Sigurdsson JK, Johannsdottir H, Uitterlinden A, Vermeulen SH, Galesloot TE, Allain DC, Lacko M, Sigurgeirsson B, Thorisdottir K, Johannsson OT, Sigurdsson F, Ragnarsson GB, Isaksson H, Hardardottir H, Gudbjartsson T, Gudbjartsson DF, Masson G, Kiemeney LAML, Ewart Toland A, Nijsten T, Peters WHM, Olafsson JH, Jonsson S, Thorsteinsdottir U, Thorleifsson G, and Stefansson K
Subjects: Alleles, Genotype, Humans, Iceland epidemiology, Mutation, Netherlands epidemiology, Odds Ratio, Polymorphism, Single Nucleotide, United States epidemiology, Carcinoma, Squamous Cell genetics, Genes, BRCA2, Genetic Predisposition to Disease, Lung Neoplasms genetics, Skin Neoplasms genetics, Small Cell Lung Carcinoma genetics
Abstract: Background: Most pathogenic mutations in the BRCA2 gene carry a high risk of hereditary breast and ovarian cancer (HBOC). However, a stop-gain mutation, K3326* (rs11571833), confers risk of lung cancer and cancers of the upper-aero-digestive tract but only a modest risk of breast or ovarian cancer. The Icelandic population provides an opportunity for comprehensive characterization of the cancer risk profiles of K3326* and HBOC mutations because a single mutation, BRCA2 999del5, is responsible for almost all BRCA2-related HBOC in the population., Methods: Genotype information on 43 641 cancer patients and 370 971 control subjects from Iceland, the Netherlands, and the United States was used to assess the cancer risk profiles of K3326* and BRCA2 999del5. BRCA2 expression was assessed using RNAseq data from blood (n = 2233), as well as 52 tissues reported in the GTEx database., Results: The cancer risks associated with K3326* are fundamentally different from those associated with 999del5. We report for the first time an association between K3326* and small cell lung cancer (odds ratio [OR] = 2.06, 95% confidence interval [CI] = 1.35 to 3.16) and squamous cell carcinoma of the skin (OR = 1.69, 95% CI = 1.26 to 2.26). Individuals homozygous for K3326* reach old age and have children. Unlike BRCA2 999del5, the K3326* allele does not affect the level of BRCA2 transcripts, and the allele is expressed to the same extent as the wild-type allele., Conclusions: K3326* associates primarily with cancers that have strong environmental genotoxic risk factors. Expression of the K3326* allele suggests that a variant protein may be made that retains the DNA repair capabilities important to hormone-responsive tissues but may be less efficient in responding to genotoxic stress.
Published: 2018
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39. Variants in the fetal genome near FLT1 are associated with risk of preeclampsia.

Author: McGinnis R, Steinthorsdottir V, Williams NO, Thorleifsson G, Shooter S, Hjartardottir S, Bumpstead S, Stefansdottir L, Hildyard L, Sigurdsson JK, Kemp JP, Silva GB, Thomsen LCV, Jääskeläinen T, Kajantie E, Chappell S, Kalsheker N, Moffett A, Hiby S, Lee WK, Padmanabhan S, Simpson NAB, Dolby VA, Staines-Urias E, Engel SM, Haugan A, Trogstad L, Svyatova G, Zakhidova N, Najmutdinova D, Dominiczak AF, Gjessing HK, Casas JP, Dudbridge F, Walker JJ, Pipkin FB, Thorsteinsdottir U, Geirsson RT, Lawlor DA, Iversen AC, Magnus P, Laivuori H, Stefansson K, and Morgan L
Subjects: Cohort Studies, Female, Follow-Up Studies, Genome, Human, Genome-Wide Association Study, Genotype, Humans, Polymorphism, Single Nucleotide, Pregnancy, Pregnancy Proteins genetics, Vascular Endothelial Growth Factor Receptor-1 blood, Fetus, Genetic Predisposition to Disease, Pre-Eclampsia genetics, Vascular Endothelial Growth Factor Receptor-1 genetics
Abstract: Preeclampsia, which affects approximately 5% of pregnancies, is a leading cause of maternal and perinatal death. The causes of preeclampsia remain unclear, but there is evidence for inherited susceptibility. Genome-wide association studies (GWAS) have not identified maternal sequence variants of genome-wide significance that replicate in independent data sets. We report the first GWAS of offspring from preeclamptic pregnancies and discovery of the first genome-wide significant susceptibility locus (rs4769613; P = 5.4 × 10 -11 ) in 4,380 cases and 310,238 controls. This locus is near the FLT1 gene encoding Fms-like tyrosine kinase 1, providing biological support, as a placental isoform of this protein (sFlt-1) is implicated in the pathology of preeclampsia. The association was strongest in offspring from pregnancies in which preeclampsia developed during late gestation and offspring birth weights exceeded the tenth centile. An additional nearby variant, rs12050029, associated with preeclampsia independently of rs4769613. The newly discovered locus may enhance understanding of the pathophysiology of preeclampsia and its subtypes.
Published: 2017
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