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  1. Home
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Browsing by Author "Eyheramendy, Susana"

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    Correction to: Novel loci and mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys (Human Genetics, (2021), 10.1007/s00439-021-02290-3)
    (Springer Science and Business Media Deutschland GmbH, 2021) Vicuña, Lucas; Norambuena, Tomás; Miranda, José Patricio; Eyheramendy, Susana; Pereira, Ana; Mericq, Verónica; Ongaro, Linda; Montinaro, Francesco; Lorenzoni Santos, José Guillermo
    © 2021, Springer-Verlag GmbH Germany, part of Springer Nature.Several typos were introduced in the original article and they have been corrected. The original article has been revised.
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    Discrete-time autoregressive model for unequally spaced time-series observations
    (2019) Elorrieta, Felipe; Eyheramendy, Susana; Palma, Wilfredo
    Most time-series models assume that the data come from observations that are equally spaced in time. However, this assumption does not hold in many diverse scientific fields, such as astronomy, finance, and climatology, among others. There are some techniques that fit unequally spaced time series, such as the continuous-time autoregressive moving average (CARMA) processes. These models are defined as the solution of a stochastic differential equation. It is not uncommon in astronomical time series, that the time gaps between observations are large. Therefore, an alternative suitable approach to modeling astronomical time series with large gaps between observations should be based on the solution of a difference equation of a discrete process. In this work we propose a novel model to fit irregular time series called the complex irregular autoregressive (CIAR) model that is represented directly as a discrete-time process. We show that the model is weakly stationary and that it can be represented as a state-space system, allowing efficient maximum likelihood estimation based on the Kalman recursions. Furthermore, we show via Monte Carlo simulations that the finite sample performance of the parameter estimation is accurate. The proposed methodology is applied to light curves from periodic variable stars, illustrating how the model can be implemented to detect poor adjustment of the harmonic model. This can occur when the period has not been accurately estimated or when the variable stars are multiperiodic. Last, we show how the CIAR model, through its state space representation, allows unobserved measurements to be forecast.
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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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    Genome-wide association study identifies eight loci associated with blood pressure
    (2009) Newton-Cheh, Christopher; Johnson, Toby; Gateva, Vesela; Tobin, Martin D.; Bochud, Murielle; Coin, Lachlan; Najjar, Samer S.; Zhao, Jing Hua; Heath, Simon C.; Eyheramendy, Susana; Papadakis, Konstantinos; Voight, Benjamin F.; Scott, Laura J.; Zhang, Feng; Farrall, Martin; Tanaka, Toshiko; Wallace, Chris; Chambers, John C.; Khaw, Kay-Tee; Nilsson, Peter; van der Harst, Pim; Polidoro, Silvia; Grobbee, Diederick E.; Onland-Moret, N. Charlotte; Bots, Michiel L.; Wain, Louise V.; Elliott, Katherine S.; Teumer, Alexander; Luan, Jian'an; Lucas, Gavin; Kuusisto, Johanna; Burton, Paul R.; Hadley, David; McArdle, Wendy L.; Brown, Morris; Dominiczak, Anna; Newhouse, Stephen J.; Samani, Nilesh J.; Webster, John; Zeggini, Eleftheria; Beckmann, Jacques S.; Bergmann, Sven; Lim, Noha; Song, Kijoung; Vollenweider, Peter; Waeber, Gerard; Waterworth, Dawn M.; Yuan, Xin; Groop, Leif; Orho-Melander, Marju; Allione, Alessandra; Di Gregorio, Alessandra; Guarrera, Simonetta; Panico, Salvatore; Ricceri, Fulvio; Romanazzi, Valeria; Sacerdote, Carlotta; Vineis, Paolo; Barroso, Ines; Sandhu, Manjinder S.; Luben, Robert N.; Crawford, Gabriel J.; Jousilahti, Pekka; Perola, Markus; Boehnke, Michael; Bonnycastle, Lori L.; Collins, Francis S.; Jackson, Anne U.; Mohlke, Karen L.; Stringham, Heather M.; Valle, Timo T.; Willer, Cristen J.; Bergman, Richard N.; Morken, Mario A.; Doering, Angela; Gieger, Christian; Illig, Thomas; Meitinger, Thomas; Org, Elin; Pfeufer, Arne; Wichmann, H. Erich; Kathiresan, Sekar; Marrugat, Jaume; O'Donnell, Christopher J.; Schwartz, Stephen M.; Siscovick, David S.; Subirana, Isaac; Freimer, Nelson B.; Hartikainen, Anna-Liisa; McCarthy, Mark I.; O'Reilly, Paul F.; Peltonen, Leena; Pouta, Anneli; de Jong, Paul E.; Snieder, Harold; van Gilst, Wiek H.; Clarke, Robert; Goel, Anuj; Hamsten, Anders; Peden, John F.; Seedorf, Udo; Syvanen, Ann-Christine; Tognoni, Giovanni; Lakatta, Edward G.; Sanna, Serena; Scheet, Paul; Schlessinger, David; Scuteri, Angelo; Doerr, Marcus; Ernst, Florian; Felix, Stephan B.; Homuth, Georg; Lorbeer, Roberto; Reffelmann, Thorsten; Rettig, Rainer; Voelker, Uwe; Galan, Pilar; Gut, Ivo G.; Hercberg, Serge; Lathrop, G. Mark; Zelenika, Diana; Deloukas, Panos; Soranzo, Nicole; Williams, Frances M.; Zhai, Guangju; Salomaa, Veikko; Laakso, Markku; Elosua, Roberto; Forouhi, Nita G.; Volzke, Henry; Uiterwaal, Cuno S.; van der Schouw, Yvonne T.; Numans, Mattijs E.; Matullo, Giuseppe; Navis, Gerjan; Berglund, Goran; Bingham, Sheila A.; Kooner, Jaspal S.; Connell, John M.; Bandinelli, Stefania; Ferrucci, Luigi; Watkins, Hugh; Spector, Tim D.; Tuomilehto, Jaakko; Altshuler, David; Strachan, David P.; Laan, Maris; Meneton, Pierre; Wareham, Nicholas J.; Uda, Manuela; Jarvelin, Marjo-Riitta; Mooser, Vincent; Melander, Olle; Loos, Ruth J. F.; Elliott, Paul; Abecasis, Goncalo R.; Caulfield, Mark; Munroe, Patricia B.
    Elevated blood pressure is a common, heritable cause of cardiovascular disease worldwide. To date, identification of common genetic variants influencing blood pressure has proven challenging. We tested 2.5 million genotyped and imputed SNPs for association with systolic and diastolic blood pressure in 34,433 subjects of European ancestry from the Global BPgen consortium and followed up findings with direct genotyping (N <= 71,225 European ancestry, N <= 12,889 Indian Asian ancestry) and in silico comparison (CHARGE consortium, N 29,136). We identified association between systolic or diastolic blood pressure and common variants in eight regions near the CYP17A1 (P = 7 x 10(-24)), CYP1A2 (P = 1 x 10(-23)), FGF5 (P = 1 x 10(-21)), SH2B3 (P = 3 x 10(-18)), MTHFR (P = 2 x 10(-13)), c10orf107 (P = 1 x 10(-9)), ZNF652 (P = 5 x 10(-9)) and PLCD3 (P = 1 x 10(-8)) genes. All variants associated with continuous blood pressure were associated with dichotomous hypertension. These associations between common variants and blood pressure and hypertension offer mechanistic insights into the regulation of blood pressure and may point to novel targets for interventions to prevent cardiovascular disease.
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    Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure
    (2011) Wain, Louise V.; Verwoert, Germaine C.; O'Reilly, Paul F.; Shi, Gang; Johnson, Toby; Johnson, Andrew D.; Bochud, Murielle; Rice, Kenneth M.; Henneman, Peter; Smith, Albert V.; Ehret, Georg B.; Amin, Najaf; Larson, Martin G.; Mooser, Vincent; Hadley, David; Doerr, Marcus; Bis, Joshua C.; Aspelund, Thor; Esko, Tonu; Janssens, A. Cecile J. W.; Zhao, Jing Hua; Heath, Simon; Laan, Maris; Fu, Jingyuan; Pistis, Giorgio; Luan, Jian'an; Arora, Pankaj; Lucas, Gavin; Pirastu, Nicola; Pichler, Irene; Jackson, Anne U.; Webster, Rebecca J.; Zhang, Feng; Peden, John F.; Schmidt, Helena; Tanaka, Toshiko; Campbell, Harry; Igl, Wilmar; Milaneschi, Yuri; Hottenga, Jouke-Jan; Vitart, Veronique; Chasman, Daniel I.; Trompet, Stella; Bragg-Gresham, Jennifer L.; Alizadeh, Behrooz Z.; Chambers, John C.; Guo, Xiuqing; Lehtimaki, Terho; Kuehnel, Brigitte; Lopez, Lorna M.; Polasek, Ozren; Boban, Mladen; Nelson, Christopher P.; Morrison, Alanna C.; Pihur, Vasyl; Ganesh, Santhi K.; Hofman, Albert; Kundu, Suman; Mattace-Raso, Francesco U. S.; Rivadeneira, Fernando; Sijbrands, Eric J. G.; Uitterlinden, Andre G.; Hwang, Shih-Jen; Vasan, Ramachandran S.; Wang, Thomas J.; Bergmann, Sven; Vollenweider, Peter; Waeber, Gerard; Laitinen, Jaana; Pouta, Anneli; Zitting, Paavo; McArdle, Wendy L.; Kroemer, Heyo K.; Voelker, Uwe; Voelzke, Henry; Glazer, Nicole L.; Taylor, Kent D.; Harris, Tamara B.; Alavere, Helene; Haller, Toomas; Keis, Aime; Tammesoo, Mari-Liis; Aulchenko, Yurii; Barroso, Ines; Khaw, Kay-Tee; Galan, Pilar; Hercberg, Serge; Lathrop, Mark; Eyheramendy, Susana; Org, Elin; Sober, Siim; Lu, Xiaowen; Nolte, Ilja M.; Penninx, Brenda W.; Corre, Tanguy; Masciullo, Corrado; Sala, Cinzia; Groop, Leif; Voight, Benjamin F.; Melander, Olle; O'Donnell, Christopher J.; Salomaa, Veikko; d'Adamo, Adamo Pio; Fabretto, Antonella; Faletra, Flavio; Ulivi, Sheila; Del Greco, Fabiola M.; Facheris, Maurizio; Collins, Francis S.; Bergman, Richard N.; Beilby, John P.; Hung, Joseph; Musk, A. William; Mangino, Massimo; Shin, So-Youn; Soranzo, Nicole; Watkins, Hugh; Goel, Anuj; Hamsten, Anders; Gider, Pierre; Loitfelder, Marisa; Zeginigg, Marion; Hernandez, Dena; Najjar, Samer S.; Navarro, Pau; Wild, Sarah H.; Corsi, Anna Maria; Singleton, Andrew; de Geus, Eco J. C.; Willemsen, Gonneke; Parker, Alex N.; Rose, Lynda M.; Buckley, Brendan; Stott, David; Orru, Marco; Uda, Manuela; van der Klauw, Melanie M.; Zhang, Weihua; Li, Xinzhong; Scott, James; Chen, Yii-Der Ida; Burke, Gregory L.; Kahonen, Mika; Viikari, Jorma; Doering, Angela; Meitinger, Thomas; Davies, Gail; Starr, John M.; Emilsson, Valur; Plump, Andrew; Lindeman, Jan H.; 't Hoen, Peter A. C.; Koenig, Inke R.; Felix, Janine F.; Clarke, Robert; Hopewell, Jemma C.; Ongen, Halit; Breteler, Monique; Debette, Stephanie; DeStefano, Anita L.; Fornage, Myriam; Mitchell, Gary F.; Smith, Nicholas L.; Holm, Hilma; Stefansson, Kari; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Samani, Nilesh J.; Preuss, Michael; Rudan, Igor; Hayward, Caroline; Deary, Ian J.; Wichmann, H-Erich; Raitakari, Olli T.; Palmas, Walter; Kooner, Jaspal S.; Stolk, Ronald P.; Jukema, J. Wouter; Wright, Alan F.; Boomsma, Dorret I.; Bandinelli, Stefania; Gyllensten, Ulf B.; Wilson, James F.; Ferrucci, Luigi; Schmidt, Reinhold; Farrall, Martin; Spector, Tim D.; Palmer, Lyle J.; Tuomilehto, Jaakko; Pfeufer, Arne; Gasparini, Paolo; Siscovick, David; Altshuler, David; Loos, Ruth J. F.; Toniolo, Daniela; Snieder, Harold; Gieger, Christian; Meneton, Pierre; Wareham, Nicholas J.; Oostra, Ben A.; Metspalu, Andres; Launer, Lenore; Rettig, Rainer; Strachan, David P.; Beckmann, Jacques S.; Witteman, Jacqueline C. M.; Erdmann, Jeanette; van Dijk, Ko Willems; Boerwinkle, Eric; Boehnke, Michael; Ridker, Paul M.; Jarvelin, Marjo-Riitta; Chakravarti, Aravinda; Abecasis, Goncalo R.; Gudnason, Vilmundur; Newton-Cheh, Christopher; Levy, Daniel; Munroe, Patricia B.; Psaty, Bruce M.; Caulfield, Mark J.; Rao, Dabeeru C.; Tobin, Martin D.; Elliott, Paul; van Duijn, Cornelia M.
    Numerous genetic loci have been associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP) in Europeans(1-3). We now report genome-wide association studies of pulse pressure (PP) and mean arterial pressure (MAP). In discovery (N = 74,064) and follow-up studies (N = 48,607), we identified at genome-wide significance (P = 2.7 x 10(-8) to P = 2.3 x 10(-13)) four new PP loci (at 4q12 near CHIC2, 7q22.3 near PIK3CG, 8q24.12 in NOV and 11q24.3 near ADAMTS8), two new MAP loci (3p21.31 in MAP4 and 10q25.3 near ADRB1) and one locus associated with both of these traits (2q24.3 near FIGN) that has also recently been associated with SBP in east Asians. For three of the new PP loci, the estimated effect for SBP was opposite of that for DBP, in contrast to the majority of common SBP- and DBP-associated variants, which show concordant effects on both traits. These findings suggest new genetic pathways underlying blood pressure variation, some of which may differentially influence SBP and DBP.
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    Genome-Wide Association Study of Blood Pressure Extremes Identifies Variant near UMOD Associated with Hypertension
    (PUBLIC LIBRARY SCIENCE, 2010) Padmanabhan, Sandosh; Melander, Olle; Johnson, Toby; Di Blasio, Anna Maria; Lee, Wai K.; Gentilini, Davide; Hastie, Claire E.; Menni, Cristina; Monti, Maria Cristina; Delles, Christian; Laing, Stewart; Corso, Barbara; Navis, Gerjan; Kwakernaak, Arjan J.; van der Harst, Pim; Bochud, Murielle; Maillard, Marc; Burnier, Michel; Hedner, Thomas; Kjeldsen, Sverre; Wahlstrand, Bjorn; Sjogren, Marketa; Fava, Cristiano; Montagnana, Martina; Danese, Elisa; Torffvit, Ole; Hedblad, Bo; Snieder, Harold; Connell, John M. C.; Brown, Morris; Samani, Nilesh J.; Farrall, Martin; Cesana, Giancarlo; Mancia, Giuseppe; Signorini, Stefano; Grassi, Guido; Eyheramendy, Susana; Wichmann, H. Erich; Laan, Maris; Strachan, David P.; Sever, Peter; Shields, Denis Colm; Stanton, Alice; Vollenweider, Peter; Teumer, Alexander; Voelzke, Henry; Rettig, Rainer; Newton Cheh, Christopher; Arora, Pankaj; Zhang, Feng; Soranzo, Nicole; Spector, Timothy D.; Lucas, Gavin; Kathiresan, Sekar; Siscovick, David S.; Luan, Jian'an; Loos, Ruth J. F.; Wareham, Nicholas J.; Penninx, Brenda W.; Nolte, Ilja M.; McBride, Martin; Miller, William H.; Nicklin, Stuart A.; Baker, Andrew H.; Graham, Delyth; McDonald, Robert A.; Pell, Jill P.; Sattar, Naveed; Welsh, Paul; Munroe, Patricia; Caulfield, Mark J.; Zanchetti, Alberto; Dominiczak, Anna F.; Global BPgen Consortium
    Hypertension is a heritable and major contributor to the global burden of disease. The sum of rare and common genetic variants robustly identified so far explain only 1%-2% of the population variation in BP and hypertension. This suggests the existence of more undiscovered common variants. We conducted a genome-wide association study in 1,621 hypertensive cases and 1,699 controls and follow-up validation analyses in 19,845 cases and 16,541 controls using an extreme case-control design. We identified a locus on chromosome 16 in the 59 region of Uromodulin (UMOD; rs13333226, combined P value of 3.6x10(-11)). The minor G allele is associated with a lower risk of hypertension (OR [95% CI]: 0.87 [0.84-0.91]), reduced urinary uromodulin excretion, better renal function; and each copy of the G allele is associated with a 7.7% reduction in risk of CVD events after adjusting for age, sex, BMI, and smoking status (H.R. = 0.923, 95% CI 0.860-0.991; p = 0.027). In a subset of 13,446 individuals with estimated glomerular filtration rate (eGFR) measurements, we show that rs13333226 is independently associated with hypertension (unadjusted for eGFR: 0.89 [0.83-0.96], p = 0.004; after eGFR adjustment: 0.89 [0.83-0.96], p = 0.003). In clinical functional studies, we also consistently show the minor G allele is associated with lower urinary uromodulin excretion. The exclusive expression of uromodulin in the thick portion of the ascending limb of Henle suggests a putative role of this variant in hypertension through an effect on sodium homeostasis. The newly discovered UMOD locus for hypertension has the potential to give new insights into the role of uromodulin in BP regulation and to identify novel drugable targets for reducing cardiovascular risk.
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    Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations
    (OXFORD UNIV PRESS, 2009) Org, Elin; Eyheramendy, Susana; Juhanson, Peeter; Gieger, Christian; Lichtner, Peter; Klopp, Norman; Veldre, Gudrun; Doering, Angela; Viigimaa, Margus; Sober, Siim; Tomberg, Kaert; Eckstein, Gertrud; Kelgo, Piret; Rebane, Tiina; Shaw Hawkins, Sue; Howard, Philip; Onipinla, Abiodun; Dobson, Richard J.; Newhouse, Stephen J.; Brown, Morris; Dominiczak, Anna; Connell, John; Samani, Nilesh; Farrall, Martin; Caulfield, Mark J.; Munroe, Patricia B.; Illig, Thomas; Wichmann, H. Erich; Meitinger, Thomas; Laan, Maris; KORA; BRIGHT
    Hypertension is a complex disease that affects a large proportion of adult population. Although approximately half of the inter-individual variance in blood pressure (BP) level is heritable, identification of genes responsible for its regulation has remained challenging. Genome-wide association study (GWAS) is a novel approach to search for genetic variants contributing to complex diseases. We conducted GWAS for three BP traits [systolic and diastolic blood pressure (SBP and DBP); hypertension (HYP)] in the Kooperative Gesundheitsforschung in der Region Augsburg (KORA) S3 cohort (n = 1644) recruited from general population in Southern Germany. GWAS with 395 912 single nucleotide polymorphisms (SNPs) identified an association between BP traits and a common variant rs11646213 (T/A) upstream of the CDH13 gene at 16q23.3. The initial associations with HYP and DBP were confirmed in two other European population-based cohorts: KORA S4 (Germans) and HYPEST (Estonians). The associations between rs11646213 and three BP traits were replicated in combined analyses (dominant model: DBP, P = 5.55 x 10(-5), effect -1.40 mmHg; SBP, P = 0.007, effect -1.56 mmHg; HYP, P = 5.30 x 10(-8), OR = 0.67). Carriers of the minor allele A had a decreased risk of hypertension. A non-significant trend for association was also detected with severe family based hypertension in the BRIGHT sample (British). The novel susceptibility locus, CDH13, encodes for an adhesion glycoprotein T-cadherin, a regulator of vascular wall remodeling and angiogenesis. Its function is compatible with the BP biology and may improve the understanding of the pathogenesis of hypertension.
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    Is the change deforestation? Using time-series analysis of satellite data to disentangle deforestation from other forest degradation causes
    (2024) Fuentes, Ignacio; Lopatin, Javier; Galleguillos, Mauricio; Ceballos-Comisso, Andrés; Eyheramendy, Susana; Carrasco Schmidt, Rodrigo Arnaldo
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    New insights from GWAS on BMI-related growth traits in a longitudinal cohort of admixed children with Native American and European ancestry
    (CELL PRESS, 2023) Vicuña, Lucas; Barrientos, Esteban; Norambuena, Tomás; Alvares, Danilo; Gana Ansaldo, Juan Cristóbal; Leiva Yamaguchi, Valeria; Meza, Cristian; Lorenzoni Santos, José Guillermo; Mericq, Verónica; Pereira, Ana; Eyheramendy, Susana
    Body-mass index (BMI) is a hallmark of adiposity. In contrast with adulthood, the genetic architecture of BMI during childhood is poorly understood. The few genome-wide association studies (GWAS) on children have been performed almost exclusively in Europeans and at single ages. We performed cross-sectional and longitudinal GWAS for BMI-related traits on 904 admixed children with mostly Mapuche Native American and European ancestries. We found regulatory variants of the immune gene HLA-DQB3 strongly associated with BMI at 1.5 - 2.5 years old. A variant in the sex-determining gene DMRT1 was associated with the age at adiposity rebound (Age-AR) in girls (P = 9.8 x 10(-9)). BMI was significantly higher in Mapuche than in Europeans between 5.5 and 16.5 years old. Finally, Age-AR was significantly lower (P = 0.004) by 1.94 years and BMI at AR was significantly higher (P = 0.04) by 1.2 kg/m(2), in Mapuche children compared with Europeans.
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    Polymorphisms in the WNK1 Gene Are Associated with Blood Pressure Variation and Urinary Potassium Excretion
    (PUBLIC LIBRARY SCIENCE, 2009) Newhouse, Stephen; Farrall, Martin; Wallace, Chris; Hoti, Mimoza; Burke, Beverley; Howard, Philip; Onipinla, Abiodun; Lee, Kate; Shaw Hawkins, Sue; Dobson, Richard; Brown, Morris; Samani, Nilesh J.; Dominiczak, Anna F.; Connell, John M.; Lathrop, G. Mark; Kooner, Jaspal; Chambers, John; Elliott, Paul; Clarke, Robert; Collins, Rory; Laan, Maris; Org, Elin; Juhanson, Peeter; Veldre, Gudrun; Viigimaa, Margus; Eyheramendy, Susana; Cappuccio, Francesco P.; Ji, Chen; Iacone, Roberto; Strazzullo, Pasquale; Kumari, Meena; Marmot, Michael; Brunner, Eric; Caulfield, Mark; Munroe, Patricia B.
    WNK1-a serine/threonine kinase involved in electrolyte homeostasis and blood pressure (BP) control-is an excellent candidate gene for essential hypertension (EH). We and others have previously reported association between WNK1 and BP variation. Using tag SNPs (tSNPs) that capture 100% of common WNK1 variation in HapMap, we aimed to replicate our findings with BP and to test for association with phenotypes relating to WNK1 function in the British Genetics of Hypertension (BRIGHT) study case-control resource (1700 hypertensive cases and 1700 normotensive controls). We found multiple variants to be associated with systolic blood pressure, SBP (7/28 tSNPs min-p = 0.0005), diastolic blood pressure, DBP (7/28 tSNPs min-p = 0.002) and 24 hour urinary potassium excretion (10/28 tSNPs min-p = 0.0004). Associations with SBP and urine potassium remained significant after correction for multiple testing (p = 0.02 and p = 0.01 respectively). The major allele (A) of rs765250, located in intron 1, demonstrated the strongest evidence for association with SBP, effect size 3.14 mmHg (95% CI: 1.23-4.9), DBP 1.9 mmHg (95% CI: 0.7-3.2) and hypertension, odds ratio (OR: 1.3 [95% CI: 1.0-1.7]). We genotyped this variant in six independent populations (n = 14,451) and replicated the association between rs765250 and SBP in a meta-analysis (p = 7 x 10(-3), combined with BRIGHT data-set p = 2 x 10(-4), n = 17,851). The associations of WNK1 with DBP and EH were not confirmed. Haplotype analysis revealed striking associations with hypertension and BP variation (global permutation p<10(-7)). We identified several common haplotypes to be associated with increased BP and multiple low frequency haplotypes significantly associated with lower BP (>10 mmHg reduction) and risk for hypertension (OR<0.60). Our data indicates that multiple rare and common WNK1 variants contribute to BP variation and hypertension, and provide compelling evidence to initiate further genetic and functional studies to explore the role of WNK1 in BP regulation and EH.
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    Postadmixture Selection on Chileans Targets Haplotype Involved in Pigmentation, Thermogenesis and Immune Defense against Pathogens
    (2020) Vicuña, Lucas ; Klimenkova, Olga ; Norambuena, Tomás; Martinez, Felipe I.; Fernandez, Mario I.; Shchur, Vladimir ; Eyheramendy, Susana ; Yi, Soojin
    Detection of positive selection signatures in populations around the world is helping to uncover recent human evolutionary history as well as the genetic basis of diseases. Most human evolutionary genomic studies have been performed in European, African, and Asian populations. However, populations with Native American ancestry have been largely underrepresented. Here, we used a genome-wide local ancestry enrichment approach complemented with neutral simulations to identify postadmixture adaptations underwent by admixed Chileans through gene flow from Europeans into local Native Americans. The top significant hits (P=2.4x10(-7)) are variants in a region on chromosome 12 comprising multiple regulatory elements. This region includes rs12821256, which regulates the expression of KITLG, a well-known gene involved in lighter hair and skin pigmentation in Europeans as well as in thermogenesis. Another variant from that region is associated with the long noncoding RNA RP11-13A1.1, which has been specifically involved in the innate immune response against infectious pathogens. Our results suggest that these genes were relevant for adaptation in Chileans following the Columbian exchange.
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    Screening of COVID-19 cases through a Bayesian network symptoms model and psychophysical olfactory test
    (CELL PRESS, 2021) Eyheramendy, Susana; Saa, Pedro A.; Undurraga, Eduardo A.; Valencia, Carlos; Lopez, Carolina; Mendez, Luis; Pizarro Berdichevsky, Javier; Finkelstein Kulka, Andres; Solari, Sandra; Salas, Nicolas; Bahamondes, Pedro; Ugarte, Martin; Barcelo, Pablo; Arenas, Marcelo; Agosin, Eduardo
    The sudden loss of smell is among the earliest and most prevalent symptoms of COVID-19 when measured with a clinical psychophysical test. Research has shown the potential impact of frequent screening for olfactory dysfunction, but existing tests are expensive and time consuming. We developed a low-cost ($0.50/test) rapid psychophysical olfactory test (KOR) for frequent testing and a model-based COVID-19 screening framework using a Bayes Network symptoms model. We trained and validated the model on two samples: suspected COVID-19 cases in five healthcare centers (n = 926; 33% prevalence, 309 RT-PCR confirmed) and healthy miners (n = 1,365; 1.1% prevalence, 15 RT-PCR confirmed). The model predicted COVID-19 status with 76% and 96% accuracy in the healthcare and miners samples, respectively (healthcare: AUC = 0.79 [0.75-0.82], sensitivity: 59%, specificity: 87%; miners: AUC = 0.71 [0.63-0.79], sensitivity: 40%, specificity: 97%, at 0.50 infection probability threshold). Our results highlight the potential for low-cost, frequent, accessible, routine COVID-19 testing to support society's reopening.
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    SLC2A9 Is a High-Capacity Urate Transporter in Humans
    (PUBLIC LIBRARY SCIENCE, 2008) Caulfield, Mark J.; Munroe, Patricia B.; O'Neill, Deb; Witkowska, Kate; Charchar, Fadi J.; Doblado, Manuel; Evans, Sarah; Eyheramendy, Susana; Onipinla, Abiodun; Howard, Philip; Shaw Hawkins, Sue; Dobson, Richard J.; Wallace, Chris; Newhouse, Stephen J.; Brown, Morris; Connell, John M.; Dominiczak, Anna; Farrall, Martin; Lathrop, G. Mark; Samani, Nilesh J.; Kumari, Meena; Marmot, Michael; Brunner, Eric; Chambers, John; Elliott, Paul; Kooner, Jaspal; Laan, Maris; Org, Elin; Veldre, Gudrun; Viigimaa, Margus; Cappuccio, Francesco P.; Ji, Chen; Iacone, Roberto; Strazzullo, Pasquale; Moley, Kelle H.; Cheeseman, Chris
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    The Next Generation Virgo Cluster Survey. XXXIII. Stellar Population Gradients in the Virgo Cluster Core Globular Cluster System
    (2022) Ko, Youkyung; Peng, Eric W.; Cote, Patrick; Ferrarese, Laura; Liu, Chengze; Longobardi, Alessia; Lancon, Ariane; Munoz, Roberto P.; Puzia, Thomas H.; Alamo-Martinez, Karla A.; Sales, Laura, V; Ramos-Almendares, Felipe; Abadi, Mario G.; Lee, Myung Gyoon; Hwang, Ho Seong; Caldwell, Nelson; Blakeslee, John P.; Boselli, Alessandro; Cuillandre, Jean-Charles; Duc, Pierre-Alain; Eyheramendy, Susana; Guhathakurta, Puragra; Gwyn, Stephen; Jordan, Andres; Lim, Sungsoon; Sanchez-Janssen, Ruben; Toloba, Elisa
    We present a study of the stellar populations of globular clusters (GCs) in the Virgo Cluster core with a homogeneous spectroscopic catalog of 692 GCs within a major-axis distance R (maj) = 840 kpc from M87. We investigate radial and azimuthal variations in the mean age, total metallicity, [Fe/H], and alpha-element abundance of blue (metal-poor) and red (metal-rich) GCs using their co-added spectra. We find that the blue GCs have a steep radial gradient in [Z/H] within R (maj) = 165 kpc, with roughly equal contributions from [Fe/H] and [alpha/Fe], and flat gradients beyond. By contrast, the red GCs show a much shallower gradient in [Z/H], which is entirely driven by [Fe/H]. We use GC-tagged Illustris simulations to demonstrate an accretion scenario where more massive satellites (with more metal- and alpha-rich GCs) sink further into the central galaxy than less massive ones, and where the gradient flattening occurs because of the low GC occupation fraction of low-mass dwarfs disrupted at larger distances. The dense environment around M87 may also cause the steep [alpha/Fe] gradient of the blue GCs, mirroring what is seen in the dwarf galaxy population. The progenitors of red GCs have a narrower mass range than those of blue GCs, which makes their gradients shallower. We also explore spatial inhomogeneity in GC abundances, finding that the red GCs to the northwest of M87 are slightly more metal-rich. Future observations of GC stellar population gradients will be useful diagnostics of halo merger histories.

Bibliotecas - Pontificia Universidad Católica de Chile- Dirección oficinas centrales: Av. Vicuña Mackenna 4860. Santiago de Chile.

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