Search Results - "ELOSUA, ROBERTO"

Road to Unravel Gene-Environment Interactions on Cardiovascular Complex Diseases by Elosua, Roberto

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The mutational constraint spectrum quantified from variation in 141,456 humans by Karczewski, Konrad J., Francioli, Laurent C., Tiao, Grace, Cummings, Beryl B., Alföldi, Jessica, Wang, Qingbo, Collins, Ryan L., Laricchia, Kristen M., Ganna, Andrea, Birnbaum, Daniel P., Gauthier, Laura D., Brand, Harrison, Solomonson, Matthew, Watts, Nicholas A., Rhodes, Daniel, Singer-Berk, Moriel, England, Eleina M., Seaby, Eleanor G., Kosmicki, Jack A., Walters, Raymond K., Tashman, Katherine, Farjoun, Yossi, Banks, Eric, Poterba, Timothy, Wang, Arcturus, Seed, Cotton, Whiffin, Nicola, Chong, Jessica X., Samocha, Kaitlin E., Pierce-Hoffman, Emma, Zappala, Zachary, O’Donnell-Luria, Anne H., Minikel, Eric Vallabh, Weisburd, Ben, Lek, Monkol, Ware, James S., Vittal, Christopher, Armean, Irina M., Bergelson, Louis, Cibulskis, Kristian, Connolly, Kristen M., Covarrubias, Miguel, Donnelly, Stacey, Ferriera, Steven, Gabriel, Stacey, Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Llanwarne, Christopher, Munshi, Ruchi, Novod, Sam, Petrillo, Nikelle, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Schleicher, Molly, Soto, Jose, Tibbetts, Kathleen, Tolonen, Charlotte, Wade, Gordon, Talkowski, Michael E., Neale, Benjamin M., Daly, Mark J., MacArthur, Daniel G.

“…Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes that are…”
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Analysis of protein-coding genetic variation in 60,706 humans by Lek, Monkol, Karczewski, Konrad J., Minikel, Eric V., Samocha, Kaitlin E., Banks, Eric, Fennell, Timothy, O’Donnell-Luria, Anne H., Ware, James S., Hill, Andrew J., Cummings, Beryl B., Tukiainen, Taru, Birnbaum, Daniel P., Kosmicki, Jack A., Duncan, Laramie E., Estrada, Karol, Zhao, Fengmei, Zou, James, Pierce-Hoffman, Emma, Berghout, Joanne, Cooper, David N., Deflaux, Nicole, DePristo, Mark, Do, Ron, Flannick, Jason, Fromer, Menachem, Gauthier, Laura, Goldstein, Jackie, Gupta, Namrata, Howrigan, Daniel, Kiezun, Adam, Kurki, Mitja I., Moonshine, Ami Levy, Natarajan, Pradeep, Orozco, Lorena, Peloso, Gina M., Poplin, Ryan, Rivas, Manuel A., Ruano-Rubio, Valentin, Rose, Samuel A., Ruderfer, Douglas M., Shakir, Khalid, Stenson, Peter D., Stevens, Christine, Thomas, Brett P., Tiao, Grace, Tusie-Luna, Maria T., Weisburd, Ben, Won, Hong-Hee, Yu, Dongmei, Altshuler, David M., Ardissino, Diego, Boehnke, Michael, Danesh, John, Donnelly, Stacey, Elosua, Roberto, Florez, Jose C., Gabriel, Stacey B., Getz, Gad, Glatt, Stephen J., Hultman, Christina M., Kathiresan, Sekar, Laakso, Markku, McCarroll, Steven, McCarthy, Mark I., McGovern, Dermot, McPherson, Ruth, Neale, Benjamin M., Palotie, Aarno, Purcell, Shaun M., Saleheen, Danish, Scharf, Jeremiah M., Sklar, Pamela, Sullivan, Patrick F., Tuomilehto, Jaakko, Tsuang, Ming T., Watkins, Hugh C., Wilson, James G., Daly, Mark J., MacArthur, Daniel G.

“…Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe…”
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Association between DNA methylation and coronary heart disease or other atherosclerotic events: A systematic review by Fernández-Sanlés, Alba, Sayols-Baixeras, Sergi, Subirana, Isaac, Degano, Irene R, Elosua, Roberto

“…Abstract Background and aims The aim of this study was to perform a systematic review of the association between DNA methylation and coronary heart disease…”
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Validation of the Regicor Short Physical Activity Questionnaire for the Adult Population by Molina, Luis, Sarmiento, Manuel, Peñafiel, Judith, Donaire, David, Garcia-Aymerich, Judith, Gomez, Miquel, Ble, Mireia, Ruiz, Sonia, Frances, Albert, Schröder, Helmut, Marrugat, Jaume, Elosua, Roberto

“…To develop and validate a short questionnaire to estimate physical activity (PA) practice and sedentary behavior for the adult population. The short…”
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Transcript expression-aware annotation improves rare variant interpretation by Cummings, Beryl B., Karczewski, Konrad J., Kosmicki, Jack A., Seaby, Eleanor G., Watts, Nicholas A., Singer-Berk, Moriel, Mudge, Jonathan M., Karjalainen, Juha, Satterstrom, F. Kyle, O’Donnell-Luria, Anne H., Poterba, Timothy, Seed, Cotton, Solomonson, Matthew, Alföldi, Jessica, Daly, Mark J., MacArthur, Daniel G.

“…The acceleration of DNA sequencing in samples from patients and population studies has resulted in extensive catalogues of human genetic variation, but the…”
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A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease by Emdin, Connor A, Haas, Mary E, Khera, Amit V, Aragam, Krishna, Chaffin, Mark, Klarin, Derek, Hindy, George, Jiang, Lan, Wei, Wei-Qi, Feng, Qiping, Karjalainen, Juha, Havulinna, Aki, Kiiskinen, Tuomo, Bick, Alexander, Ardissino, Diego, Wilson, James G, Schunkert, Heribert, McPherson, Ruth, Watkins, Hugh, Elosua, Roberto, Bown, Matthew J, Samani, Nilesh J, Baber, Usman, Erdmann, Jeanette, Gupta, Namrata, Danesh, John, Saleheen, Danish, Chang, Kyong-Mi, Vujkovic, Marijana, Voight, Ben, Damrauer, Scott, Lynch, Julie, Kaplan, David, Serper, Marina, Tsao, Philip, Mercader, Josep, Hanis, Craig, Daly, Mark, Denny, Joshua, Gabriel, Stacey, Kathiresan, Sekar

“…Analyzing 12,361 all-cause cirrhosis cases and 790,095 controls from eight cohorts, we identify a common missense variant in the Mitochondrial Amidoxime…”
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Twenty-five-year trends in myocardial infarction attack and mortality rates, and case-fatality, in six European populations by Dégano, Irene R, Salomaa, Veikko, Veronesi, Giovanni, Ferriéres, Jean, Kirchberger, Inge, Laks, Toivo, Havulinna, Aki S, Ruidavets, Jean-Bernard, Ferrario, Marco M, Meisinger, Christa, Elosua, Roberto, Marrugat, Jaume

“…Due to the burden of coronary heart disease (CHD), the monitoring of CHD trends is required. This study sought to examine the acute myocardial infarction (AMI)…”
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Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels by Emdin, Connor A., DPhil, Khera, Amit V., MD, Natarajan, Pradeep, MD, Klarin, Derek, MD, Won, Hong-Hee, PhD, Peloso, Gina M., PhD, Stitziel, Nathan O., MD, PhD, Nomura, Akihiro, MD, Zekavat, Seyedeh M., BSc, Bick, Alexander G., MD, Gupta, Namrata, PhD, Asselta, Rosanna, PhD, Duga, Stefano, PhD, Merlini, Piera Angelica, MD, Correa, Adolfo, MD, Kessler, Thorsten, MD, Wilson, James G., MD, Bown, Matthew J., MD, Hall, Alistair S., MD, Braund, Peter S., PhD, Samani, Nilesh J., MD, Schunkert, Heribert, MD, Marrugat, Jaume, MD, PhD, Elosua, Roberto, MD, PhD, McPherson, Ruth, MD, Farrall, Martin, PhD, Watkins, Hugh, MD, PhD, Willer, Cristen, PhD, Abecasis, Gonçalo R., PhD, Felix, Janine F., MD, PhD, Vasan, Ramachandran S., MD, Lander, Eric, PhD, Rader, Daniel J., MD, Danesh, John, MSc, DPhil, Ardissino, Diego, MD, Gabriel, Stacey, PhD, Saleheen, Danish, MD, Kathiresan, Sekar, MD

“…Abstract Background Genomic analyses have suggested that the LPA gene and its associated plasma biomarker, lipoprotein(a) (Lp[a]), represent a causal risk…”
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Combined use of high-sensitivity ST2 and NTproBNP to improve the prediction of death in heart failure by Bayes-Genis, Antoni, de Antonio, Marta, Galán, Amparo, Sanz, Héctor, Urrutia, Agustin, Cabanes, Roser, Cano, Lucía, González, Beatriz, Díez, Cristanto, Pascual, Teresa, Elosúa, Roberto, Lupón, Josep

“…Aims To address the incremental usefulness of biomarkers from different disease pathways for predicting risk of death in heart failure (HF). Methods and…”
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Meta-analysis of Genome-wide Association Studies Identifies 1q22 as a Susceptibility Locus for Intracerebral Hemorrhage by Woo, Daniel, Falcone, Guido J., Devan, William J., Brown, W. Mark, Biffi, Alessandro, Howard, Timothy D., Anderson, Christopher D., Brouwers, H. Bart, Valant, Valerie, Battey, Thomas W.K., Radmanesh, Farid, Raffeld, Miriam R., Baedorf-Kassis, Sylvia, Deka, Ranjan, Woo, Jessica G., Martin, Lisa J., Haverbusch, Mary, Moomaw, Charles J., Sun, Guangyun, Broderick, Joseph P., Flaherty, Matthew L., Martini, Sharyl R., Kleindorfer, Dawn O., Kissela, Brett, Comeau, Mary E., Jagiella, Jeremiasz M., Schmidt, Helena, Freudenberger, Paul, Pichler, Alexander, Enzinger, Christian, Hansen, Björn M., Norrving, Bo, Jimenez-Conde, Jordi, Giralt-Steinhauer, Eva, Elosua, Roberto, Cuadrado-Godia, Elisa, Soriano, Carolina, Roquer, Jaume, Kraft, Peter, Ayres, Alison M., Schwab, Kristin, McCauley, Jacob L., Pera, Joanna, Urbanik, Andrzej, Rost, Natalia S., Goldstein, Joshua N., Viswanathan, Anand, Stögerer, Eva-Maria, Tirschwell, David L., Selim, Magdy, Brown, Devin L., Silliman, Scott L., Worrall, Bradford B., Meschia, James F., Kidwell, Chelsea S., Montaner, Joan, Fernandez-Cadenas, Israel, Delgado, Pilar, Malik, Rainer, Dichgans, Martin, Greenberg, Steven M., Rothwell, Peter M., Lindgren, Arne, Slowik, Agnieszka, Schmidt, Reinhold, Langefeld, Carl D., Rosand, Jonathan

“…Intracerebral hemorrhage (ICH) is the stroke subtype with the worst prognosis and has no established acute treatment. ICH is classified as lobar or nonlobar…”
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DNA methylation and obesity traits: An epigenome-wide association study. The REGICOR study by Sayols-Baixeras, Sergi, Subirana, Isaac, Fernández-Sanlés, Alba, Sentí, Mariano, Lluís-Ganella, Carla, Marrugat, Jaume, Elosua, Roberto

“…Obesity is associated with increased risk of several diseases and has become epidemic. Obesity is highly heritable but the genetic variants identified by…”
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Association of angiotensin-converting enzyme insertion/deletion (ACE I/D) and angiotensinogen (AGT M235T) polymorphisms with the risk of obesity in a Tunisian population by Khamlaoui, Wided, Mehri, Sounira, Hammami, Sonia, Elosua, Roberto, Hammami, Mohamed

“…Objective: This study aims to determine whether genetic variants in ACE I/D and AGT M235T are associated with overweight-obesity and body mass index (BMI) in a…”
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Effect of the number of measurement sites on land use regression models in estimating local air pollution by Basagaña, Xavier, Rivera, Marcela, Aguilera, Inmaculada, Agis, David, Bouso, Laura, Elosua, Roberto, Foraster, Maria, de Nazelle, Audrey, Nieuwenhuijsen, Mark, Vila, Joan, Künzli, Nino

“…Land use regression (LUR) models are often used in epidemiologic studies to predict the air pollution exposure of health study participants. Such models are…”
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Statins for Prevention of Cardiovascular Events in a Low-Risk Population With Low Ankle Brachial Index by Ramos, Rafel, MD, PhD, García-Gil, Maria, MD, PhD, Comas-Cufí, Marc, MSc, Quesada, Miquel, MD, Marrugat, Jaume, MD, PhD, Elosua, Roberto, MD, PhD, Sala, Joan, MD, PhD, Grau, María, MD, PhD, Martí, Ruth, PhD, Ponjoan, Anna, MPh, Alves-Cabratosa, Lia, MD, Blanch, Jordi, MSc, Bolíbar, Bonaventura, MD

“…Abstract Background Evidence is lacking about the effectiveness of risk reduction interventions in patients with asymptomatic peripheral arterial disease…”
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Do individuals with autoimmune disease have increased risk of subclinical carotid atherosclerosis and stiffness? by Vila, Maria Del Mar, Remeseiro, Beatriz, Igual, Laura, Elosua, Roberto, Ramos, Rafel, Valdivielso, Jose Manuel, Martí-Lluch, Ruth, Marrugat, Jaume, Grau, Maria

“…To explore the role of chronic inflammation inherent to autoimmune diseases in the development of subclinical atherosclerosis and arterial stiffness, this…”
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Association between long-term air pollution exposure and DNA methylation: The REGICOR study by Sayols-Baixeras, Sergi, Fernández-Sanlés, Alba, Prats-Uribe, Albert, Subirana, Isaac, Plusquin, Michelle, Künzli, Nino, Marrugat, Jaume, Basagaña, Xavier, Elosua, Roberto

“…Limited evidence suggests that epigenetic mechanisms may partially mediate the adverse effects of air pollution on health. Our aims were to identify new…”
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Role of HDL function and LDL atherogenicity on cardiovascular risk: A comprehensive examination by Hernáez, Álvaro, Soria-Florido, María Trinidad, Schröder, Helmut, Ros, Emilio, Pintó, Xavier, Estruch, Ramón, Salas-Salvadó, Jordi, Corella, Dolores, Arós, Fernando, Serra-Majem, Lluis, Martínez-González, Miguel Ángel, Fiol, Miquel, Lapetra, José, Elosua, Roberto, Lamuela-Raventós, Rosa María, Fitó, Montserrat

“…High-density lipoprotein (HDL) functionality and low-density lipoprotein (LDL) atherogenic traits can describe the role of both particles on cardiovascular…”
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Association Between Genetic Variants in FADS1-FADS2 and ELOVL2 and Obesity, Lipid Traits, and Fatty Acids in Tunisian Population by Khamlaoui, Wided, Mehri, Sounira, Hammami, Sonia, Hammouda, Souha, Chraeif, Imed, Elosua, Roberto, Hammami, Mohamed

“…The aim of this study was to determine whether genetic variants in FADS1/FADS2 and ELOVL2 are associated with overweight–obesity and body mass index (BMI) and…”
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New susceptibility locus for coronary artery disease on chromosome 3q22.3 by Perret, Claire, Blankenberg, Stefan, Stark, Klaus, Braund, Peter S, Rubin, Diana, Deloukas, Panos, Ball, Stephen G, Schäfer, Arne, Thompson, John R, Voight, Benjamin F, Zeller, Tanja, Schunkert, Heribert, Ouwehand, Willem H, Merlini, Piera Angelica, Schrezenmeir, Jürgen, Linsel-Nitschke, Patrick, Bernardinelli, Luisa, Elosua, Roberto, Wright, Ben, Peyvandi, Flora, Schillert, Arne, Meisinger, Christa, Hengstenberg, Christian, Samani, Nilesh J, Salomaa, Veikko, Peltonen, Leena, Melander, Olle, Schreiber, Stefan, Trégouët, David-Alexandre, Mokhtari, Nour Eddine El, Schwarz, Daniel F, Balmforth, Anthony J, Kathiresan, Sekar, Wagner, Arnika K, Siscovick, David S, Schwartz, Stephen M, Bugert, Peter, Ardissino, Diego, König, Inke R, Aherrahrou, Zouhair, Wild, Philipp, Erdmann, Jeanette, Baumert, Jens, Renner, Wilfried, Bruse, Petra, Klüter, Harald, Altshuler, David, März, Winfried, Wichmann, H-Erich, Ziegler, Andreas, Fischer, Marcus, Hall, Alistair S, Cambien, Francois, Meitinger, Thomas, Großhennig, Anika, Tiret, Laurence, O'Donnell, Christopher J, Peters, Annette

“…We present a three-stage analysis of genome-wide SNP data in 1,222 German individuals with myocardial infarction and 1,298 controls, in silico replication in…”
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