Browsing by Author "Rivadeneira, Fernando"

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    Association of Novel Genetic Loci With Circulating Fibrinogen Levels A Genome-Wide Association Study in 6 Population-Based Cohorts
    (LIPPINCOTT WILLIAMS & WILKINS, 2009) Dehghan, Abbas; Yang, Qiong; Peters, Annette; Basu, Saonli; Bis, Joshua C.; Rudnicka, Alicja R.; Kavousi, Maryam; Chen, Ming Huei; Baumert, Jens; Lowe, Gordon D. O.; McKnight, Barbara; Tang, Weihong; de Maat, Moniek; Larson, Martin G.; Eyhermendy, Susana; McArdle, Wendy L.; Lumley, Thomas; Pankow, James S.; Hofman, Albert; Massaro, Joseph M.; Rivadeneira, Fernando; Kolz, Melanie; Taylor, Kent D.; van Duijn, Cornelia M.; Kathiresan, Sekar; Illig, Thomas; Aulchenko, Yurii S.; Volcik, Kelly A.; Johnson, Andrew D.; Uitterlinden, Andre G.; Tofler, Geoffrey H.; Gieger, Christian; Psaty, Bruce M.; Couper, David J.; Boerwinkle, Eric; Koenig, Wolfgang; O'Donnell, Christopher J.; Witteman, Jacqueline C.; Strachan, David P.; Smith, Nicholas L.; Folsom, Aaron R.; Wellcome Trust Case Control Consor
    Background: Fibrinogen is both central to blood coagulation and an acute-phase reactant. We aimed to identify common variants influencing circulation fibrinogen levels. Methods and Results: We conducted a genome-wide association analysis on 6 population-based studies, the Rotterdam Study, the Framingham Heart Study, the Cardiovascular Health Study, the Atherosclerosis Risk in Communities Study, the Monitoring of Trends and Determinants in Cardiovascular Disease/KORA Augsburg Study, and the British 1958 Birth Cohort Study, including 22 096 participants of European ancestry. Four loci were marked by 1 or more single-nucleotide polymorphisms that demonstrated genome-wide significance (P<5.0×10-8). These included a single-nucleotide polymorphism located in the fibrinogen β chain (FGB) gene and 3 single-nucleotide polymorphisms representing newly identified loci. The high-signal single-nucleotide polymorphisms were rs1800789 in exon 7 of FGB (P=1.8×10-30), rs2522056 downstream from the interferon regulatory factor 1 (IRF1) gene (P=1.3×10-15), rs511154 within intron 1 of the propionyl coenzyme A carboxylase (PCCB) gene (P=5.9×10-10), and rs1539019 on the NLR family pyrin domain containing 3 isoforms (NLRP3) gene (P=1.04×10-8). Conclusions: Our findings highlight biological pathways that may be important in regulation of inflammation underlying cardiovascular disease. © 2009 American Heart Association, Inc.
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    Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk
    (NATURE PUBLISHING GROUP, 2011) Ehret, Georg B.; Munroe, Patricia B.; Rice, Kenneth M.; Bochud, Murielle; Johnson, Andrew D.; Chasman, Daniel I.; Smith, Albert V.; Tobin, Martin D.; Verwoert, Germaine C.; Hwang, Shih Jen; Pihur, Vasyl; Vollenweider, Peter; O'Reilly, Paul F.; Amin, Najaf; Bragg Gresham, Jennifer L.; Teumer, Alexander; Glazer, Nicole L.; Launer, Lenore; Zhao, Jing Hua; Aulchenko, Yurii; Heath, Simon; Sober, Siim; Parsa, Afshin; Luan, Jian'an; Arora, Pankaj; Dehghan, Abbas; Zhang, Feng; Lucas, Gavin; Hicks, Andrew A.; Jackson, Anne U.; Peden, John F.; Tanaka, Toshiko; Wild, Sarah H.; Rudan, Igor; Igl, Wilmar; Milaneschi, Yuri; Parker, Alex N.; Fava, Cristiano; Chambers, John C.; Fox, Ervin R.; Kumari, Meena; Go, Min Jin; van der Harst, Pim; Kao, Wen Hong Linda; Sjogren, Marketa; Vinay, D. G.; Alexander, Myriam; Tabara, Yasuharu; Shaw Hawkins, Sue; Whincup, Peter H.; Liu, Yongmei; Shi, Gang; Kuusisto, Johanna; Tayo, Bamidele; Seielstad, Mark; Sim, Xueling; Khanh Dung Hoang Nguyen; Lehtimaki, Terho; Matullo, Giuseppe; Wu, Ying; Gaunt, Tom R.; Onland Moret, N. Charlotte; Cooper, Matthew N.; Platou, Carl G. P.; Org, Elin; Hardy, Rebecca; Dahgam, Santosh; Palmen, Jutta; Vitart, Veronique; Braund, Peter S.; Kuznetsova, Tatiana; Uiterwaal, Cuno S. P. M.; Adeyemo, Adebowale; Palmas, Walter; Campbell, Harry; Ludwig, Barbara; Tomaszewski, Maciej; Tzoulaki, Ioanna; Palmer, Nicholette D.; Aspelund, Thor; Garcia, Melissa; Chang, Yen Pei C.; O'Connell, Jeffrey R.; Steinle, Nanette I.; Grobbee, Diederick E.; Arking, Dan E.; Kardia, Sharon L.; Morrison, Alanna C.; Hernandez, Dena; Najjar, Samer; McArdle, Wendy L.; Hadley, David; Brown, Morris J.; Connell, John M.; Hingorani, Aroon D.; Day, Ian N. M.; Lawlor, Debbie A.; Beilby, John P.; Lawrence, Robert W.; Clarke, Robert; Hopewell, Jemma C.; Ongen, Halit; Dreisbach, Albert W.; Li, Yali; Young, J. Hunter; Bis, Joshua C.; Kahonen, Mika; Viikari, Jorma; Adair, Linda S.; Lee, Nanette R.; Chen, Ming Huei; Olden, Matthias; Pattaro, Cristian; Bolton, Judith A. Hoffman; Koettgen, Anna; Bergmann, Sven; Mooser, Vincent; Chaturvedi, Nish; Frayling, Timothy M.; Islam, Muhammad; Jafar, Tazeen H.; Erdmann, Jeanette; Kulkarni, Smita R.; Bornstein, Stefan R.; Graessler, Juergen; Groop, Leif; Voight, Benjamin F.; Kettunen, Johannes; Howard, Philip; Taylor, Andrew; Guarrera, Simonetta; Ricceri, Fulvio; Emilsson, Valur; Plump, Andrew; Barroso, Ine S.; Khaw, Kay Tee; Weder, Alan B.; Hunt, Steven C.; Sun, Yan V.; Bergman, Richard N.; Collins, Francis S.; Bonnycastle, Lori L.; Scott, Laura J.; Stringham, Heather M.; Peltonen, Leena; Perola, Markus; Vartiainen, Erkki; Brand, Stefan Martin; Staessen, Jan A.; Wang, Thomas J.; Burton, Paul R.; Artigas, Maria Soler; Dong, Yanbin; Snieder, Harold; Wang, Xiaoling; Zhu, Haidong; Lohman, Kurt K.; Rudock, Megan E.; Heckbert, Susan R.; Smith, Nicholas L.; Wiggins, Kerri L.; Doumatey, Ayo; Shriner, Daniel; Veldre, Gudrun; Viigimaa, Margus; Kinra, Sanjay; Prabhakaran, Dorairaj; Tripathy, Vikal; Langefeld, Carl D.; Rosengren, Annika; Thelle, Dag S.; Corsi, Anna Maria; Singleton, Andrew; Forrester, Terrence; Hilton, Gina; McKenzie, Colin A.; Salako, Tunde; Iwai, Naoharu; Kita, Yoshikuni; Ogihara, Toshio; Ohkubo, Takayoshi; Okamura, Tomonori; Ueshima, Hirotsugu; Umemura, Satoshi; Eyheramendy, Susana; Meitinger, Thomas; Wichmann, H. Erich; Cho, Yoon Shin; Kim, Hyung Lae; Lee, Jong Young; Scott, James; Sehmi, Joban S.; Zhang, Weihua; Hedblad, Bo; Nilsson, Peter; Smith, George Davey; Wong, Andrew; Narisu, Narisu; Stancakova, Alena; Raffel, Leslie J.; Yao, Jie; Kathiresan, Sekar; O'Donnell, Christopher J.; Schwartz, Stephen M.; Ikram, M. Arfan; Longstreth, W. T., Jr.; Mosley, Thomas H.; Seshadri, Sudha; Shrine, Nick R. G.; Wain, Louise V.; Morken, Mario A.; Swift, Amy J.; Laitinen, Jaana; Prokopenko, Inga; Zitting, Paavo; Cooper, Jackie A.; Humphries, Steve E.; Danesh, John; Rasheed, Asif; Goel, Anuj; Hamsten, Anders; Watkins, Hugh; Bakker, Stephan J. L.; van Gilst, Wiek H.; Janipalli, Charles S.; Mani, K. Radha; Yajnik, Chittaranjan S.; Hofman, Albert; Mattace Raso, Francesco U. S.; Oostra, Ben A.; Demirkan, Ayse; Isaacs, Aaron; Rivadeneira, Fernando; Lakatta, Edward G.; Orru, Marco; Scuteri, Angelo; Ala Korpela, Mika; Kangas, Antti J.; Lyytikainen, Leo Pekka; Soininen, Pasi; Tukiainen, Taru; Wurtz, Peter; Ong, Rick Twee Hee; Doerr, Marcus; Kroemer, Heyo K.; Voelker, Uwe; Voelzke, Henry; Galan, Pilar; Hercberg, Serge; Lathrop, Mark; Zelenika, Diana; Deloukas, Panos; Mangino, Massimo; Spector, Tim D.; Zhai, Guangju; Meschia, James F.; Nalls, Michael A.; Sharma, Pankaj; Terzic, Janos; Kumar, M. V. Kranthi; Denniff, Matthew; Zukowska Szczechowska, Ewa; Wagenknecht, Lynne E.; Fowkes, F. Gerald R.; Charchar, Fadi J.; Schwarz, Peter E. H.; Hayward, Caroline; Guo, Xiuqing; Rotimi, Charles; Bots, Michiel L.; Brand, Eva; Samani, Nilesh J.; Polasek, Ozren; Talmud, Philippa J.; Nyberg, Fredrik; Kuh, Diana; Laan, Maris; Hveem, Kristian; Palmer, Lyle J.; van der Schouw, Yvonne T.; Casas, Juan P.; Mohlke, Karen L.; Vineis, Paolo; Raitakari, Olli; Ganesh, Santhi K.; Wong, Tien Y.; Tai, E. Shyong; Cooper, Richard S.; Laakso, Markku; Rao, Dabeeru C.; Harris, Tamara B.; Morris, Richard W.; Dominiczak, Anna F.; Kivimaki, Mika; Marmot, Michael G.; Miki, Tetsuro; Saleheen, Danish; Chandak, Giriraj R.; Coresh, Josef; Navis, Gerjan; Salomaa, Veikko; Han, Bok Ghee; Zhu, Xiaofeng; Kooner, Jaspal S.; Melander, Olle; Ridker, Paul M.; Bandinelli, Stefania; Gyllensten, Ulf B.; Wright, Alan F.; Wilson, James F.; Ferrucci, Luigi; Farrall, Martin; Tuomilehto, Jaakko; Pramstaller, Peter P.; Elosua, Roberto; Soranzo, Nicole; Sijbrands, Eric J. G.; Altshuler, David; Loos, Ruth J. F.; Shuldiner, Alan R.; Gieger, Christian; Meneton, Pierre; Uitterlinden, Andre G.; Wareham, Nicholas J.; Gudnason, Vilmundur; Rotter, Jerome I.; Rettig, Rainer; Uda, Manuela; Strachan, David P.; Witteman, Jacqueline C. M.; Hartikainen, Anna Liisa; Beckmann, Jacques S.; Boerwinkle, Eric; Vasan, Ramachandran S.; Boehnke, Michael; Larson, Martin G.; Jarvelin, Marjo Riitta; Psaty, Bruce M.; Abecasis, Goncalo R.; Chakravarti, Aravinda; Elliott, Paul; van Duijn, Cornelia M.; Newton Cheh, Christopher; Levy, Daniel; Caulfield, Mark J.; Johnson, Toby; Int Consortium Blood Pressure Geno; CARDIoGRAM Consortium; CKDGen Consortium; KidneyGen Consortium; EchoGen Consortium; CHARGE HF Consortium
    Blood pressure is a heritable trait(1) influenced by several biological pathways and responsive to environmental stimuli. Over one billion people worldwide have hypertension (>= 140 mm Hg systolic blood pressure or >= 90 mm Hg diastolic blood pressure)(2). Even small increments in blood pressure are associated with an increased risk of cardiovascular events(3). This genome-wide association study of systolic and diastolic blood pressure, which used a multi-stage design in 200,000 individuals of European descent, identified sixteen novel loci: six of these loci contain genes previously known or suspected to regulate blood pressure (GUCY1A3-GUCY1B3, NPR3-C5orf23, ADM, FURIN-FES, GOSR2, GNAS-EDN3); the other ten provide new clues to blood pressure physiology. A genetic risk score based on 29 genome-wide significant variants was associated with hypertension, left ventricular wall thickness, stroke and coronary artery disease, but not kidney disease or kidney function. We also observed associations with blood pressure in East Asian, South Asian and African ancestry individuals. Our findings provide new insights into the genetics and biology of blood pressure, and suggest potential novel therapeutic pathways for cardiovascular disease prevention.
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    Study Designs in Genomic Epidemiology
    (ACADEMIC PRESS LTD-ELSEVIER SCIENCE LTD, 2020) Santos Martin, José Luis; Rivadeneira, Fernando
    The choice of an appropriate study design is a critical first step in any genomic epidemiology research, especially considering the current unprecedented capacity of generating massive information derived from genomics and other "-omics” disciplines. In this chapter, we will review the main types of study designs used to discover novel genes or gene variants related to human diseases, as well as to assess their quantitative impact on disease risk. Several study designs are commonly used in the field of epidemiology (for example, cohort, classical case-control, and case-cohort studies). In contrast, other study designs based on the observation of resemblance among relatives come primarily from the field of human genetics, such as family aggregation, adoption, and monozygotic-dizygotic twin studies. Finally, the massive incorporation of genetic markers and next-generation sequencing data has been used in linkage studies of nuclear or multigenerational families, genomic studies of population isolates, and genome-wide association studies.