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  • DBDS Genomic Consortium (2021-02-13)
    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 ...
  • DCCT/EDIC Research Group; Arnar, Davíð Ottó (2023-08-02)
    Resting heart rate is associated with cardiovascular diseases and mortality in observational and Mendelian randomization studies. The aims of this study are to extend the number of resting heart rate associated genetic variants and to obtain further ...
  • Lifelines Cohort Study (2022-09)
    Estimated glomerular filtration rate (eGFR) reflects kidney function. Progressive eGFR-decline can lead to kidney failure, necessitating dialysis or transplantation. Hundreds of loci from genome-wide association studies (GWAS) for eGFR help explain ...
  • Hahn, Julie; Fu, Yi Ping; Brown, Michael R.; Bis, Joshua C.; de Vries, Paul S.; Feitosa, Mary F.; Yanek, Lisa R.; Weiss, Stefan; Giulianini, Franco; Smith, Albert Vernon; Guo, Xiuqing; Bartz, Traci M.; Becker, Diane M.; Becker, Lewis C.; Boerwinkle, Eric; Brody, Jennifer A.; Chen, Yii Der Ida; Franco, Oscar H.; Grove, Megan; Harris, Tamara B.; Hofman, Albert; Hwang, Shih Jen; Kral, Brian G.; Launer, Lenore J.; Markus, Marcello R.P.; Rice, Kenneth M.; Rich, Stephen S.; Ridker, Paul M.; Rivadeneira, Fernando; Rotter, Jerome I.; Sotoodehnia, Nona; Taylor, Kent D.; Uitterlinden, André G.; Völker, Uwe; Völzke, Henry; Yao, Jie; Chasman, Daniel I.; Dörr, Marcus; Gudnason, Vilmundur; Mathias, Rasika A.; Post, Wendy; Psaty, Bruce M.; Dehghan, Abbas; O’Donnell, Christopher J.; Morrison, Alanna C. (2020-11)
    Background Genome-wide association studies have identified multiple genomic loci associated with coronary artery disease, but most are common variants in non-coding regions that provide limited information on causal genes and etiology of the disease. ...
  • Liu, Xiaoyan; Swen, Jesse J.; Diekstra, Meta H.M.; Boven, Epie; Castellano, Daniel; Gelderblom, Hans; Mathijssen, Ron H.J.; Vermeulen, Sita H.; Oosterwijk, Egbert; Junker, Kerstin; Roessler, Max; Alexiusdottir, Kristin; Sverrisdóttir, Ásgerður; Radu, Marius T.; Ambert, Valentin; Eisen, Tim; Warren, Anne; Rodríguez-Antona, Cristina; García-Donas, Jesus; Böhringer, Stefan; Koudijs, Karel K.M.; Kiemeney, Lambertus A.L.M.; Rini, Brian I.; Guchelaar, Henk-Jan (2018-05-15)
    Purpose: The survival of patients with clear cell metastatic renal cell carcinoma (cc-mRCC) has improved substantially since the introduction of tyrosine kinase inhibitors (TKI). With the fact that TKIs interact with immune responses, we investigated ...
  • Van Zuydam, Natalie R.; Ladenvall, Claes; Voight, Benjamin F.; Strawbridge, Rona J.; Fernandez-Tajes, Juan; Rayner, N. William; Robertson, Neil R.; Mahajan, Anubha; Vlachopoulou, Efthymia; Goel, Anuj; Kleber, Marcus E.; Nelson, Christopher P.; Kwee, Lydia Coulter; Esko, Tõnu; Mihailov, Evelin; Mägi, Reedik; Milani, Lili; Fischer, Krista; Kanoni, Stavroula; Kumar, Jitender; Song, Ci; Hartiala, Jaana A.; Pedersen, Nancy L.; Perola, Markus; Gieger, Christian; Peters, Annette; Qu, Liming; Willems, Sara M.; Doney, Alex S.F.; Morris, Andrew D.; Zheng, Yan; Sesti, Giorgio; Hu, Frank B.; Qi, Lu; Laakso, Markku; Thorsteinsdottir, Unnur; Grallert, Harald; Van Duijn, Cornelia; Reilly, Muredach P.; Ingelsson, Erik; Deloukas, Panos; Kathiresan, Sek; Metspalu, Andres; Shah, Svati H.; Sinisalo, Juha; Salomaa, Veikko; Hamsten, Anders; Samani, Nilesh J.; März, Winfried; Hazen, Stanley L. (2020-12-01)
    Background: Coronary artery disease (CAD) is accelerated in subjects with type 2 diabetes mellitus (T2D). Methods: To test whether this reflects differential genetic influences on CAD risk in subjects with T2D, we performed a systematic assessment of ...
  • FINNPEC Consortium; GOPEC Consortium; Thorsteinsdottir, Unnur (2020-12)
    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 ...
  • Nicoletti, Paola; Devarbhavi, Harshad; Goel, Ashish; Venkatesan, Radha; Eapen, Chundamannil E.; Grove, Jane I.; Zafer, Samreen; Björnsson, Einar Stefán; Lucena, M. Isabel; Andrade, Raul J.; Pirmohamed, Munir; Wadelius, Mia; Larrey, Dominique; Maitland-van der Zee, Anke Hilse; Ibanez, Luisa; Watkins, Paul B.; Daly, Ann K.; Aithal, Guruprasad P. (2021-04)
    Drug-induced liver injury (DILI) is a complication of treatment with antituberculosis (TB) drugs, especially in isoniazid (INH)-containing regimens. To investigate genetic risk factors, we performed a genomewide association study (GWAS) involving anti-TB ...
  • Mattingsdal, Morten; Ebenesersdóttir, Sigríður Sunna; Moore, Kristjan Helgi Swerford; Andreassen, Ole A.; Hansen, Thomas Folkmann; Werge, Thomas M.; Kockum, Ingrid; Olsson, Tomas; Alfredsson, Lars; Helgason, Agnar Sturla; Stefánsson, Kári; Hovig, Eivind (2021-11)
    The aim of the present study was to describe the genetic structure of the Norwegian population using genotypes from 6369 unrelated individuals with detailed information about places of residence. Using standard single marker- and haplotype-based ...
  • Norén-Nyström, Ulrika; Andersen, Mette K; Barbany, Gisela; Dirse, Vaidas; Eilert-Olsen, Martine; Engvall, Marie; Harila-Saari, Arja; Heyman, Mats; Hovland, Randi; Häikiö, Satu; Jónsson, Jón Jóhannes; Karhu, Ritva; Kjeldsen, Eigil; Norberg, Anna; Preiss, Birgitte S; Pulkkinen, Kati; Quist-Paulsen, Petter; Räsänen, Hannele; Schmiegelow, Kjeld; Seitsonen, Anne; Sjögren, Helene; Tammur, Pille; Johansson, Bertil (2023-05-04)
  • Eiríksson, Finnur Freyr; Helgadottir, Anna; Thorleifsson, Gudmar; Alexandersson, Kristjan F.; Tragante, Vinicius; Þorsteinsdóttir, Margrét; Grétarsdóttir, Solveig; Björnsson, Eyþór; Magnússon, Ólafur; Sveinbjornsson, Gardar; Jónsdóttir, Ingileif; Steinthorsdottir, Valgerdur; Ferkingstad, Egil; Jensson, Brynjar Ö; Stefansson, Hreinn; Ólafsson, Ísleifur; Christensen, Alex H; Torp-Pedersen, Christian; Køber, Lars; Pedersen, Ole B; Erikstrup, Christian; Sorensen, Erik; Brunak, Søren; Banasik, Karina; Hansen, Thomas Folkmann; Nyegaard, Mette; Eyjolfssson, Gudmundur I; Sigurdardottir, Olof; Thorarinsson, Bjorn L; Matthiasson, Stefan E.; Steingrimsdottir, Thora; Bjornsson, Einar S; Danielsen, Ragnar; Asselbergs, Folkert W; Arnar, Davíð Ottó; Ullum, Henrik; Bundgaard, Henning; sulem, patrick; Thorsteinsdottir, Unnur; Thorgeirsson, Gudmundur; Holm, Hilma; Gudbjartsson, Daniel F; Stefansson, Kari; Sørensen, Erik; Eyjólfsson, Guðmundur I.; Þórarinsson, Björn L; Björnsson, Einar Stefán; Arnar, David O; Thorsteinsdottir, Margret; Björnsson, Eythór (2020-07-21)
    Aims To explore whether variability in dietary cholesterol and phytosterol absorption impacts the risk of coronary artery disease (CAD) using as instruments sequence variants in the ABCG5/8 genes, key regulators of intestinal absorption of dietary ...
  • Stacey, Simon N.; Zink, Florian; Halldórsson, Gísli Hreinn; Stefánsdóttir, Lilja; Guðjónsson, Sigurjón Axel; Einarsson, Gudmundur; Hjörleifsson, Grimur; Eiríksdóttir, Þjóðbjörg; Helgadottir, Anna; Björnsdottir, Gyda; Thorgeirsson, Thorgeir E.; Ólafsdóttir, Þórunn Ásta; Jónsdóttir, Ingileif; Gretarsdottir, Solveig; Tragante, Vinicius; Magnússon, Magnús Karl; Jonsson, Hakon; Gudmundsson, Julius; Olafsson, Sigurgeir; Holm, Hilma; Gudbjartsson, Daniel F.; Sulem, Patrick; Helgason, Agnar Sturla; Þorsteinsdóttir, Unnur; Tryggvadottir, Laufey; Rafnar, Thorunn; Melsted, Páll; Úlfarsson, Magnús Örn; Viðarsson, Brynjar; Thorleifsson, Gudmar; Stefánsson, Kári (2023-12)
    Clonal hematopoiesis (CH) arises when a substantial proportion of mature blood cells is derived from a single hematopoietic stem cell lineage. Using whole-genome sequencing of 45,510 Icelandic and 130,709 UK Biobank participants combined with a mutational ...
  • Mishra, Aniket; Duplaà, Cecile; Vojinovic, Dina; Suzuki, Hideaki; Sargurupremraj, Muralidharan; Zilhão, Nuno R.; Li, Shuo; Bartz, Traci M.; Jian, Xueqiu; Zhao, Wei; Hofer, Edith; Wittfeld, Katharina; Harris, Sarah E.; Van Der Auwera-Palitschka, Sandra; Luciano, Michelle; Bis, Joshua C.; Adams, Hieab H.H.; Satizabal, Claudia L.; Gottesman, Rebecca F.; Gampawar, Piyush G.; Bülow, Robin; Weiss, Stefan; Yu, Miao; Bastin, Mark E.; Lopez, Oscar L.; Vernooij, Meike W.; Beiser, Alexa S.; Völker, Uwe; Kacprowski, Tim; Soumare, Aicha; Smith, Jennifer A.; Knopman, David S.; Morris, Zoe; Zhu, Yicheng; Rotter, Jerome I.; Dufouil, Carole; Valdes Hernández, Maria; Muñoz Maniega, Susana; Lathrop, Mark; Boerwinkle, Erik; Schmidt, Reinhold; Ihara, Masafumi; Mazoyer, Bernard; Yang, Qiong; Joutel, Anne; Tournier-Lasserve, Elizabeth; Launer, Lenore J.; Deary, Ian J.; Mosley, Thomas H.; Gudnason, Vilmundur (2022-06-01)
    Cerebral small vessel disease is a leading cause of stroke and a major contributor to cognitive decline and dementia, but our understanding of specific genes underlying the cause of sporadic cerebral small vessel disease is limited. We report a genome-wide ...
  • Lorenzetti, Alan P.R.; Kusebauch, Ulrike; Zaramela, Lívia S.; Wu, Wei Ju; de Almeida, João P.P.; Turkarslan, Serdar; de Lomana, Adrián L.G.; Gomes-Filho, José V.; Vêncio, Ricardo Z.N.; Moritz, Robert L.; Koide, Tie; Baliga, Nitin S. (2023-04-27)
    The scale of post-transcriptional regulation and the implications of its interplay with other forms of regulation in environmental acclimation are underexplored for organisms of the domain Archaea. Here, we have investigated the scale of post-transcriptional ...
  • International Headache Genetics Consortium; HUNT All-in Headache; Danish Blood Donor Study Genomic Cohort (2022-02-01)
    Migraine affects over a billion individuals worldwide but its genetic underpinning remains largely unknown. Here, we performed a genome-wide association study of 102,084 migraine cases and 771,257 controls and identified 123 loci, of which 86 are ...
  • Teumer, Alexander; Li, Yong; Ghasemi, Sahar; Prins, Bram P.; Wuttke, Matthias; Hermle, Tobias; Giri, Ayush; Sieber, Karsten B.; Qiu, Chengxiang; Kirsten, Holger; Tin, Adrienne; Chu, Audrey Y.; Bansal, Nisha; Feitosa, Mary F.; Wang, Lihua; Chai, Jin Fang; Cocca, Massimiliano; Fuchsberger, Christian; Gorski, Mathias; Hoppmann, Anselm; Horn, Katrin; Li, Man; Marten, Jonathan; Noce, Damia; Nutile, Teresa; Sedaghat, Sanaz; Sveinbjornsson, Gardar; Tayo, Bamidele O.; van der Most, Peter J.; Xu, Yizhe; Yu, Zhi; Gerstner, Lea; Ärnlöv, Johan; Bakker, Stephan J.L.; Baptista, Daniela; Biggs, Mary L.; Boerwinkle, Eric; Brenner, Hermann; Burkhardt, Ralph; Carroll, Robert J.; Chee, Miao Li; Chee, Miao Ling; Chen, Mengmeng; Cheng, Ching Yu; Cook, James P.; Coresh, Josef; Corre, Tanguy; Danesh, John; de Borst, Martin H.; De Grandi, Alessandro; de Mutsert, Renée; de Vries, Aiko P.J.; Degenhardt, Frauke; Dittrich, Katalin; Divers, Jasmin; Eckardt, Kai Uwe; Ehret, Georg; Endlich, Karlhans; Felix, Janine F.; Franco, Oscar H.; Franke, Andre; Freedman, Barry I.; Freitag-Wolf, Sandra; Gansevoort, Ron T.; Giedraitis, Vilmantas; Gögele, Martin; Grundner-Culemann, Franziska; Gudbjartsson, Daniel F.; Gudnason, Vilmundur; Hamet, Pavel; Harris, Tamara B.; Hicks, Andrew A.; Holm, Hilma; Foo, Valencia Hui Xian; Hwang, Shih Jen; Ikram, M. Arfan; Ingelsson, Erik; Jaddoe, Vincent W.V.; Jakobsdottir, Johanna; Josyula, Navya Shilpa; Jung, Bettina; Kähönen, Mika; Khor, Chiea Chuen; Kiess, Wieland; Koenig, Wolfgang; Körner, Antje; Kovacs, Peter; Kramer, Holly; Krämer, Bernhard K.; Kronenberg, Florian; Lange, Leslie A.; Langefeld, Carl D.; Lee, Jeannette Jen Mai; Lehtimäki, Terho; Lieb, Wolfgang; Lim, Su Chi; Lind, Lars; Lindgren, Cecilia M.; Liu, Jianjun; Loeffler, Markus; Lyytikäinen, Leo Pekka; Mahajan, Anubha; Maranville, Joseph C.; Mascalzoni, Deborah; McMullen, Barbara; Meisinger, Christa; Meitinger, Thomas; Miliku, Kozeta; Mook-Kanamori, Dennis O.; Müller-Nurasyid, Martina; Mychaleckyj, Josyf C.; Nauck, Matthias; Nikus, Kjell; Ning, Boting; Noordam, Raymond; Connell, Jeffrey O’; Olafsson, Isleifur; Palmer, Nicholette D.; Peters, Annette; Podgornaia, Anna I.; Ponte, Belen; Poulain, Tanja; Pramstaller, Peter P.; Rabelink, Ton J.; Raffield, Laura M.; Reilly, Dermot F.; Rettig, Rainer; Rheinberger, Myriam; Rice, Kenneth M.; Rivadeneira, Fernando; Runz, Heiko; Ryan, Kathleen A.; Sabanayagam, Charumathi; Saum, Kai Uwe; Schöttker, Ben; Shaffer, Christian M.; Shi, Yuan; Smith, Albert V.; Strauch, Konstantin; Stumvoll, Michael; Sun, Benjamin B.; Szymczak, Silke; Tai, E. Shyong; Tan, Nicholas Y.Q.; Taylor, Kent D.; Teren, Andrej; Tham, Yih Chung; Thiery, Joachim; Thio, Chris H.L.; Thomsen, Hauke; Thorsteinsdottir, Unnur; Tönjes, Anke; Tremblay, Johanne; Uitterlinden, André G.; van der Harst, Pim; Verweij, Niek; Vogelezang, Suzanne; Völker, Uwe; Waldenberger, Melanie; Wang, Chaolong; Wilson, Otis D.; Wong, Charlene; Wong, Tien Yin; Yang, Qiong; Yasuda, Masayuki; Akilesh, Shreeram; Bochud, Murielle; Böger, Carsten A.; Devuyst, Olivier; Edwards, Todd L.; Ho, Kevin; Morris, Andrew P.; Parsa, Afshin; Pendergrass, Sarah A.; Psaty, Bruce M.; Rotter, Jerome I.; Stefansson, Kari; Wilson, James G.; Susztak, Katalin; Snieder, Harold; Heid, Iris M.; Scholz, Markus; Butterworth, Adam S.; Hung, Adriana M.; Pattaro, Cristian; Köttgen, Anna (2019-12-01)
    Increased levels of the urinary albumin-to-creatinine ratio (UACR) are associated with higher risk of kidney disease progression and cardiovascular events, but underlying mechanisms are incompletely understood. Here, we conduct trans-ethnic (n = 564,257) ...
  • Mateos, Marion K.; Tulstrup, Morten; Quinn, Michael C.J.; Tuckuviene, Ruta; Marshall, Glenn M.; Gupta, Ramneek; Mayoh, Chelsea; Wolthers, Benjamin O.; Barbaro, Pasquale M.; Ruud, Ellen; Sutton, Rosemary; Huttunen, Pasi; Revesz, Tamas; Trakymiene, Sonata S.; Barbaric, Draga; Tedgård, Ulf; Giles, Jodie E.; Alvaro, Frank; Jonsson, Olafur G.; Mechinaud, Françoise; Saks, Kadri; Catchpoole, Daniel; Kotecha, Rishi S.; Dalla-Pozza, Luciano; Chenevix-Trench, Georgia; Trahair, Toby N.; Macgregor, Stuart; Schmiegelow, Kjeld (2020-05-19)
    Symptomatic venous thromboembolism (VTE) occurs in five percent of children treated for acute lymphoblastic leukemia (ALL), but whether a genetic predisposition exists across different ALL treatment regimens has not been well studied. Methods: We ...
  • Mbarek, Hamdi; Gordon, Scott D.; Duffy, David L.; Hubers, Nikki; Mortlock, Sally; Beck, Jeffrey J.; Hottenga, Jouke Jan; Pool, René; Dolan, Conor V.; Actkins, Ky'Era V.; Gerring, Zachary F.; Van Dongen, Jenny; Ehli, Erik A.; Iacono, William G.; Mcgue, Matt; Chasman, Daniel I.; Gallagher, C. Scott; Schilit, Samantha L.P.; Morton, Cynthia C.; Paré, Guillaume; Willemsen, Gonneke; Whiteman, David C.; Olsen, Catherine M.; Derom, Catherine; Vlietinck, Robert; Gudbjartsson, Daniel; Cannon-Albright, Lisa; Krapohl, Eva; Plomin, Robert; Magnusson, Patrik K.E.; Pedersen, Nancy L.; Hysi, Pirro; Mangino, Massimo; Spector, Timothy D.; Palviainen, Teemu; Milaneschi, Yuri; Penninnx, Brenda W.; Campos, Adrian I.; Ong, Ken K.; Perry, John R.B.; Lambalk, Cornelis B.; Kaprio, Jaakko; Ólafsson, Ísleifur; Duroure, Karine; Revenu, Céline; Rentería, Miguel E.; Yengo, Loic; Davis, Lea; Derks, Eske M.; Medland, Sarah E.; Stefansson, Hreinn; Stefánsson, Kári; Del Bene, Filippo; Reversade, Bruno; Montgomery, Grant W.; Boomsma, Dorret I.; Martin, Nicholas G. (2024-01-01)
    STUDY QUESTION: Which genetic factors regulate female propensity for giving birth to spontaneous dizygotic (DZ) twins? SUMMARY ANSWER: We identified four new loci, GNRH1, FSHR, ZFPM1, and IPO8, in addition to previously identified loci, FSHB and SMAD3. ...
  • Ahluwalia, Tarunveer S.; Prins, Bram P.; Abdollahi, Mohammadreza; Armstrong, Nicola J.; Aslibekyan, Stella; Bain, Lisa; Jefferis, Barbara; Baumert, Jens; Beekman, Marian; Ben-Shlomo, Yoav; Bis, Joshua C.; Mitchell, Braxton D.; De Geus, Eco; Delgado, Graciela E.; Marek, Diana; Eriksson, Joel; Kajantie, Eero; Kanoni, Stavroula; Kemp, John P.; Lu, Chen; Marioni, Riccardo E.; McLachlan, Stela; Milaneschi, Yuri; Nolte, Ilja M.; Petrelis, Alexandros M.; Porcu, Eleonora; Sabater-Lleal, Maria; Naderi, Elnaz; Seppälä, Ilkka; Shah, Tina; Singhal, Gaurav; Standl, Marie; Teumer, Alexander; Thalamuthu, Anbupalam; Thiering, Elisabeth; Trompet, Stella; Ballantyne, Christie M.; Benjamin, Emelia J.; Casas, Juan P.; Toben, Catherine; Dedoussis, George; Deelen, Joris; Durda, Peter; Engmann, Jorgen; Feitosa, Mary F.; Grallert, Harald; Hammarstedt, Ann; Harris, Sarah E.; Homuth, Georg; Guðnason, Vilmundur G. (2021-01-30)
    Interleukin 6 (IL-6) is a multifunctional cytokine with both pro-A nd anti-inflammatory properties with a heritability estimate of up to 61%. The circulating levels of IL-6 in blood have been associated with an increased risk of complex disease ...
  • Lu, Donghao; Sapkota, Yadav; Valdimarsdóttir, Unnur A.; Koenen, Karestan C.; Li, Nan; Leisenring, Wendy M.; Gibson, Todd; Wilson, Carmen L.; Robison, Leslie L.; Hudson, Melissa M.; Armstrong, Gregory T.; Krull, Kevin R.; Yasui, Yutaka; Bhatia, Smita; Recklitis, Christopher J. (2022-08-23)
    Genetic influence shapes who develops posttraumatic stress disorder (PTSD) after traumatic events. However, the genetic variants identified for PTSD may in fact be associated with traumatic exposures (e.g., interpersonal violence), which appear heritable ...