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28 results on '"Shah, Sonia"'

3. Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease

Author

Cadby, Gemma, primary, Giles, Corey, additional, Melton, Phillip E., additional, Huynh, Kevin, additional, Mellett, Natalie A., additional, Duong, Thy, additional, Nguyen, Anh, additional, Cinel, Michelle, additional, Smith, Alex, additional, Olshansky, Gavriel, additional, Wang, Tingting, additional, Brozynska, Marta, additional, Inouye, Mike, additional, McCarthy, Nina S., additional, Ariff, Amir, additional, Hung, Joseph, additional, Hui, Jennie, additional, Beilby, John, additional, Dubé, Marie-Pierre, additional, Watts, Gerald F., additional, Shah, Sonia, additional, Wray, Naomi R., additional, Lim, Wei Ling Florence, additional, Chatterjee, Pratishtha, additional, Martins, Ian, additional, Laws, Simon M., additional, Porter, Tenielle, additional, Vacher, Michael, additional, Bush, Ashley I., additional, Rowe, Christopher C., additional, Villemagne, Victor L., additional, Ames, David, additional, Masters, Colin L., additional, Taddei, Kevin, additional, Arnold, Matthias, additional, Kastenmüller, Gabi, additional, Nho, Kwangsik, additional, Saykin, Andrew J., additional, Han, Xianlin, additional, Kaddurah-Daouk, Rima, additional, Martins, Ralph N., additional, Blangero, John, additional, Meikle, Peter J., additional, and Moses, Eric K., additional

Published
2022
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8. Identification of 55,000 Replicated DNA Methylation QTL

Author

McRae, Allan F., primary, Marioni, Riccardo E., additional, Shah, Sonia, additional, Yang, Jian, additional, Powell, Joseph E., additional, Harris, Sarah E., additional, Gibson, Jude, additional, Henders, Anjali K., additional, Bowdler, Lisa, additional, Painter, Jodie N., additional, Murphy, Lee, additional, Martin, Nicholas G., additional, Starr, John M., additional, Wray, Naomi R., additional, Deary, Ian J., additional, Visscher, Peter M., additional, and Montgomery, Grant W., additional

Published
2018
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9. Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis

Author

Benyamin, Beben, primary, He, Ji, additional, Zhao, Qiongyi, additional, Gratten, Jacob, additional, Garton, Fleur, additional, Leo, Paul J., additional, Liu, Zhijun, additional, Mangelsdorf, Marie, additional, Al-Chalabi, Ammar, additional, Anderson, Lisa, additional, Butler, Timothy J., additional, Chen, Lu, additional, Chen, Xiang-Ding, additional, Cremin, Katie, additional, Deng, Hong-Weng, additional, Devine, Matthew, additional, Edson, Janette, additional, Fifita, Jennifer A., additional, Furlong, Sarah, additional, Han, Ying-Ying, additional, Harris, Jessica, additional, Henders, Anjali K., additional, Jeffree, Rosalind L., additional, Jin, Zi-Bing, additional, Li, Zhongshan, additional, Li, Ting, additional, Li, Mengmeng, additional, Lin, Yong, additional, Liu, Xiaolu, additional, Marshall, Mhairi, additional, McCann, Emily P., additional, Mowry, Bryan J., additional, Ngo, Shyuan T., additional, Pamphlett, Roger, additional, Ran, Shu, additional, Reutens, David C., additional, Rowe, Dominic B., additional, Sachdev, Perminder, additional, Shah, Sonia, additional, Song, Sharon, additional, Tan, Li-Jun, additional, Tang, Lu, additional, van den Berg, Leonard H., additional, van Rheenen, Wouter, additional, Veldink, Jan H., additional, Wallace, Robyn H., additional, Wheeler, Lawrie, additional, Williams, Kelly L., additional, Wu, Jinyu, additional, Wu, Xin, additional, Yang, Jian, additional, Yue, Weihua, additional, Zhang, Zong-Hong, additional, Zhang, Dai, additional, Noakes, Peter G., additional, Blair, Ian P., additional, Henderson, Robert D., additional, McCombe, Pamela A., additional, Visscher, Peter M., additional, Xu, Huji, additional, Bartlett, Perry F., additional, Brown, Matthew A., additional, Wray, Naomi R., additional, and Fan, Dongsheng, additional

Published
2017
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11. DNA methylation age of blood predicts all-cause mortality in later life

Author

Marioni, Riccardo E, primary, Shah, Sonia, additional, McRae, Allan F, additional, Chen, Brian H, additional, Colicino, Elena, additional, Harris, Sarah E, additional, Gibson, Jude, additional, Henders, Anjali K, additional, Redmond, Paul, additional, Cox, Simon R, additional, Pattie, Alison, additional, Corley, Janie, additional, Murphy, Lee, additional, Martin, Nicholas G, additional, Montgomery, Grant W, additional, Feinberg, Andrew P, additional, Fallin, M Daniele, additional, Multhaup, Michael L, additional, Jaffe, Andrew E, additional, Joehanes, Roby, additional, Schwartz, Joel, additional, Just, Allan C, additional, Lunetta, Kathryn L, additional, Murabito, Joanne M, additional, Starr, John M, additional, Horvath, Steve, additional, Baccarelli, Andrea A, additional, Levy, Daniel, additional, Visscher, Peter M, additional, Wray, Naomi R, additional, and Deary, Ian J, additional

Published
2015
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15. Common variants associated with plasma triglycerides and risk for coronary artery disease

Author

Do, Ron, primary, Willer, Cristen J, additional, Schmidt, Ellen M, additional, Sengupta, Sebanti, additional, Gao, Chi, additional, Peloso, Gina M, additional, Gustafsson, Stefan, additional, Kanoni, Stavroula, additional, Ganna, Andrea, additional, Chen, Jin, additional, Buchkovich, Martin L, additional, Mora, Samia, additional, Beckmann, Jacques S, additional, Bragg-Gresham, Jennifer L, additional, Chang, Hsing-Yi, additional, Demirkan, Ayşe, additional, Den Hertog, Heleen M, additional, Donnelly, Louise A, additional, Ehret, Georg B, additional, Esko, Tõnu, additional, Feitosa, Mary F, additional, Ferreira, Teresa, additional, Fischer, Krista, additional, Fontanillas, Pierre, additional, Fraser, Ross M, additional, Freitag, Daniel F, additional, Gurdasani, Deepti, additional, Heikkilä, Kauko, additional, Hyppönen, Elina, additional, Isaacs, Aaron, additional, Jackson, Anne U, additional, Johansson, Åsa, additional, Johnson, Toby, additional, Kaakinen, Marika, additional, Kettunen, Johannes, additional, Kleber, Marcus E, additional, Li, Xiaohui, additional, Luan, Jian'an, additional, Lyytikäinen, Leo-Pekka, additional, Magnusson, Patrik K E, additional, Mangino, Massimo, additional, Mihailov, Evelin, additional, Montasser, May E, additional, Müller-Nurasyid, Martina, additional, Nolte, Ilja M, additional, O'Connell, Jeffrey R, additional, Palmer, Cameron D, additional, Perola, Markus, additional, Petersen, Ann-Kristin, additional, Sanna, Serena, additional, Saxena, Richa, additional, Service, Susan K, additional, Shah, Sonia, additional, Shungin, Dmitry, additional, Sidore, Carlo, additional, Song, Ci, additional, Strawbridge, Rona J, additional, Surakka, Ida, additional, Tanaka, Toshiko, additional, Teslovich, Tanya M, additional, Thorleifsson, Gudmar, additional, Van den Herik, Evita G, additional, Voight, Benjamin F, additional, Volcik, Kelly A, additional, Waite, Lindsay L, additional, Wong, Andrew, additional, Wu, Ying, additional, Zhang, Weihua, additional, Absher, Devin, additional, Asiki, Gershim, additional, Barroso, Inês, additional, Been, Latonya F, additional, Bolton, Jennifer L, additional, Bonnycastle, Lori L, additional, Brambilla, Paolo, additional, Burnett, Mary S, additional, Cesana, Giancarlo, additional, Dimitriou, Maria, additional, Doney, Alex S F, additional, Döring, Angela, additional, Elliott, Paul, additional, Epstein, Stephen E, additional, Eyjolfsson, Gudmundur Ingi, additional, Gigante, Bruna, additional, Goodarzi, Mark O, additional, Grallert, Harald, additional, Gravito, Martha L, additional, Groves, Christopher J, additional, Hallmans, Göran, additional, Hartikainen, Anna-Liisa, additional, Hayward, Caroline, additional, Hernandez, Dena, additional, Hicks, Andrew A, additional, Holm, Hilma, additional, Hung, Yi-Jen, additional, Illig, Thomas, additional, Jones, Michelle R, additional, Kaleebu, Pontiano, additional, Kastelein, John J P, additional, Khaw, Kay-Tee, additional, Kim, Eric, additional, Klopp, Norman, additional, Komulainen, Pirjo, additional, Kumari, Meena, additional, Langenberg, Claudia, additional, Lehtimäki, Terho, additional, Lin, Shih-Yi, additional, Lindström, Jaana, additional, Loos, Ruth J F, additional, Mach, François, additional, McArdle, Wendy L, additional, Meisinger, Christa, additional, Mitchell, Braxton D, additional, Müller, Gabrielle, additional, Nagaraja, Ramaiah, additional, Narisu, Narisu, additional, Nieminen, Tuomo V M, additional, Nsubuga, Rebecca N, additional, Olafsson, Isleifur, additional, Ong, Ken K, additional, Palotie, Aarno, additional, Papamarkou, Theodore, additional, Pomilla, Cristina, additional, Pouta, Anneli, additional, Rader, Daniel J, additional, Reilly, Muredach P, additional, Ridker, Paul M, additional, Rivadeneira, Fernando, additional, Rudan, Igor, additional, Ruokonen, Aimo, additional, Samani, Nilesh, additional, Scharnagl, Hubert, additional, Seeley, Janet, additional, Silander, Kaisa, additional, Stančáková, Alena, additional, Stirrups, Kathleen, additional, Swift, Amy J, additional, Tiret, Laurence, additional, Uitterlinden, Andre G, additional, van Pelt, L Joost, additional, Vedantam, Sailaja, additional, Wainwright, Nicholas, additional, Wijmenga, Cisca, additional, Wild, Sarah H, additional, Willemsen, Gonneke, additional, Wilsgaard, Tom, additional, Wilson, James F, additional, Young, Elizabeth H, additional, Zhao, Jing Hua, additional, Adair, Linda S, additional, Arveiler, Dominique, additional, Assimes, Themistocles L, additional, Bandinelli, Stefania, additional, Bennett, Franklyn, additional, Bochud, Murielle, additional, Boehm, Bernhard O, additional, Boomsma, Dorret I, additional, Borecki, Ingrid B, additional, Bornstein, Stefan R, additional, Bovet, Pascal, additional, Burnier, Michel, additional, Campbell, Harry, additional, Chakravarti, Aravinda, additional, Chambers, John C, additional, Chen, Yii-Der Ida, additional, Collins, Francis S, additional, Cooper, Richard S, additional, Danesh, John, additional, Dedoussis, George, additional, de Faire, Ulf, additional, Feranil, Alan B, additional, Ferrières, Jean, additional, Ferrucci, Luigi, additional, Freimer, Nelson B, additional, Gieger, Christian, additional, Groop, Leif C, additional, Gudnason, Vilmundur, additional, Gyllensten, Ulf, additional, Hamsten, Anders, additional, Harris, Tamara B, additional, Hingorani, Aroon, additional, Hirschhorn, Joel N, additional, Hofman, Albert, additional, Hovingh, G Kees, additional, Hsiung, Chao Agnes, additional, Humphries, Steve E, additional, Hunt, Steven C, additional, Hveem, Kristian, additional, Iribarren, Carlos, additional, Järvelin, Marjo-Riitta, additional, Jula, Antti, additional, Kähönen, Mika, additional, Kaprio, Jaakko, additional, Kesäniemi, Antero, additional, Kivimaki, Mika, additional, Kooner, Jaspal S, additional, Koudstaal, Peter J, additional, Krauss, Ronald M, additional, Kuh, Diana, additional, Kuusisto, Johanna, additional, Kyvik, Kirsten O, additional, Laakso, Markku, additional, Lakka, Timo A, additional, Lind, Lars, additional, Lindgren, Cecilia M, additional, Martin, Nicholas G, additional, März, Winfried, additional, McCarthy, Mark I, additional, McKenzie, Colin A, additional, Meneton, Pierre, additional, Metspalu, Andres, additional, Moilanen, Leena, additional, Morris, Andrew D, additional, Munroe, Patricia B, additional, Njølstad, Inger, additional, Pedersen, Nancy L, additional, Power, Chris, additional, Pramstaller, Peter P, additional, Price, Jackie F, additional, Psaty, Bruce M, additional, Quertermous, Thomas, additional, Rauramaa, Rainer, additional, Saleheen, Danish, additional, Salomaa, Veikko, additional, Sanghera, Dharambir K, additional, Saramies, Jouko, additional, Schwarz, Peter E H, additional, Sheu, Wayne H-H, additional, Shuldiner, Alan R, additional, Siegbahn, Agneta, additional, Spector, Tim D, additional, Stefansson, Kari, additional, Strachan, David P, additional, Tayo, Bamidele O, additional, Tremoli, Elena, additional, Tuomilehto, Jaakko, additional, Uusitupa, Matti, additional, van Duijn, Cornelia M, additional, Vollenweider, Peter, additional, Wallentin, Lars, additional, Wareham, Nicholas J, additional, Whitfield, John B, additional, Wolffenbuttel, Bruce H R, additional, Altshuler, David, additional, Ordovas, Jose M, additional, Boerwinkle, Eric, additional, Palmer, Colin N A, additional, Thorsteinsdottir, Unnur, additional, Chasman, Daniel I, additional, Rotter, Jerome I, additional, Franks, Paul W, additional, Ripatti, Samuli, additional, Cupples, L Adrienne, additional, Sandhu, Manjinder S, additional, Rich, Stephen S, additional, Boehnke, Michael, additional, Deloukas, Panos, additional, Mohlke, Karen L, additional, Ingelsson, Erik, additional, Abecasis, Goncalo R, additional, Daly, Mark J, additional, Neale, Benjamin M, additional, and Kathiresan, Sekar, additional

Published
2013
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26. GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes

Author

Franceschini, Nora, Giambartolomei, Claudia, De Vries, Paul S, Finan, Chris, Bis, Joshua C, Huntley, Rachael P, Lovering, Ruth C, Tajuddin, Salman M, Winkler, Thomas W, Graff, Misa, Kavousi, Maryam, Dale, Caroline, Smith, Albert V, Hofer, Edith, Van Leeuwen, Elisabeth M, Nolte, Ilja M, Lu, Lingyi, Scholz, Markus, Sargurupremraj, Muralidharan, Pitkänen, Niina, Franzén, Oscar, Joshi, Peter K, Noordam, Raymond, Marioni, Riccardo E, Hwang, Shih-Jen, Musani, Solomon K, Schminke, Ulf, Palmas, Walter, Isaacs, Aaron, Correa, Adolfo, Zonderman, Alan B, Hofman, Albert, Teumer, Alexander, Cox, Amanda J, Uitterlinden, André G, Wong, Andrew, Smit, Andries J, Newman, Anne B, Britton, Annie, Ruusalepp, Arno, Sennblad, Bengt, Hedblad, Bo, Pasaniuc, Bogdan, Penninx, Brenda W, Langefeld, Carl D, Wassel, Christina L, Tzourio, Christophe, Fava, Cristiano, Baldassarre, Damiano, O'Leary, Daniel H, Teupser, Daniel, Kuh, Diana, Tremoli, Elena, Mannarino, Elmo, Grossi, Enzo, Boerwinkle, Eric, Schadt, Eric E, Ingelsson, Erik, Veglia, Fabrizio, Rivadeneira, Fernando, Beutner, Frank, Chauhan, Ganesh, Heiss, Gerardo, Snieder, Harold, Campbell, Harry, Völzke, Henry, Markus, Hugh S, Deary, Ian J, Jukema, J Wouter, De Graaf, Jacqueline, Price, Jacqueline, Pott, Janne, Hopewell, Jemma C, Liang, Jingjing, Thiery, Joachim, Engmann, Jorgen, Gertow, Karl, Rice, Kenneth, Taylor, Kent D, Dhana, Klodian, Kiemeney, Lambertus ALM, Lind, Lars, Raffield, Laura M, Launer, Lenore J, Holdt, Lesca M, Dörr, Marcus, Dichgans, Martin, Traylor, Matthew, Sitzer, Matthias, Kumari, Meena, Kivimaki, Mika, Nalls, Mike A, Melander, Olle, Raitakari, Olli, Franco, Oscar H, Rueda-Ochoa, Oscar L, Roussos, Panos, Whincup, Peter H, Amouyel, Philippe, Giral, Philippe, Anugu, Pramod, Wong, Quenna, Malik, Rainer, Rauramaa, Rainer, Burkhardt, Ralph, Hardy, Rebecca, Schmidt, Reinhold, De Mutsert, Renée, Morris, Richard W, Strawbridge, Rona J, Wannamethee, S Goya, Hägg, Sara, Shah, Sonia, McLachlan, Stela, Trompet, Stella, Seshadri, Sudha, Kurl, Sudhir, Heckbert, Susan R, Ring, Susan, Harris, Tamara B, Lehtimäki, Terho, Galesloot, Tessel E, Shah, Tina, De Faire, Ulf, Plagnol, Vincent, Rosamond, Wayne D, Post, Wendy, Zhu, Xiaofeng, Zhang, Xiaoling, Guo, Xiuqing, Saba, Yasaman, MEGASTROKE Consortium, Dehghan, Abbas, Seldenrijk, Adrie, Morrison, Alanna C, Hamsten, Anders, Psaty, Bruce M, Van Duijn, Cornelia M, Lawlor, Deborah A, Mook-Kanamori, Dennis O, Bowden, Donald W, Schmidt, Helena, Wilson, James F, Wilson, James G, Rotter, Jerome I, Wardlaw, Joanna M, Deanfield, John, Halcox, Julian, Lyytikäinen, Leo-Pekka, Loeffler, Markus, Evans, Michele K, Debette, Stéphanie, Humphries, Steve E, Völker, Uwe, Gudnason, Vilmundur, Hingorani, Aroon D, Björkegren, Johan LM, Casas, Juan P, and O'Donnell, Christopher J

Subjects
Quantitative Trait Loci, ADAMTS9 Protein, Coronary Disease, Carotid Intima-Media Thickness, Polymorphism, Single Nucleotide, Plaque, Atherosclerotic, 3. Good health, Protein-Lysine 6-Oxidase, Risk Factors, cardiovascular system, Humans, Genetic Predisposition to Disease, cardiovascular diseases, Amino Acid Oxidoreductases, Lod Score, Genome-Wide Association Study
Abstract

Carotid artery intima media thickness (cIMT) and carotid plaque are measures of subclinical atherosclerosis associated with ischemic stroke and coronary heart disease (CHD). Here, we undertake meta-analyses of genome-wide association studies (GWAS) in 71,128 individuals for cIMT, and 48,434 individuals for carotid plaque traits. We identify eight novel susceptibility loci for cIMT, one independent association at the previously-identified PINX1 locus, and one novel locus for carotid plaque. Colocalization analysis with nearby vascular expression quantitative loci (cis-eQTLs) derived from arterial wall and metabolic tissues obtained from patients with CHD identifies candidate genes at two potentially additional loci, ADAMTS9 and LOXL4. LD score regression reveals significant genetic correlations between cIMT and plaque traits, and both cIMT and plaque with CHD, any stroke subtype and ischemic stroke. Our study provides insights into genes and tissue-specific regulatory mechanisms linking atherosclerosis both to its functional genomic origins and its clinical consequences in humans.

27. Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

Author

Shah, Sonia, Henry, Albert, Roselli, Carolina, Lin, Honghuang, Sveinbjörnsson, Garðar, Fatemifar, Ghazaleh, Hedman, Åsa K, Wilk, Jemma B, Morley, Michael P, Chaffin, Mark D, Helgadottir, Anna, Verweij, Niek, Dehghan, Abbas, Almgren, Peter, Andersson, Charlotte, Aragam, Krishna G, Ärnlöv, Johan, Backman, Joshua D, Biggs, Mary L, Bloom, Heather L, Brandimarto, Jeffrey, Brown, Michael R, Buckbinder, Leonard, Carey, David J, Chasman, Daniel I, Chen, Xing, Chen, Xu, Chung, Jonathan, Chutkow, William, Cook, James P, Delgado, Graciela E, Denaxas, Spiros, Doney, Alexander S, Dörr, Marcus, Dudley, Samuel C, Dunn, Michael E, Engström, Gunnar, Esko, Tõnu, Felix, Stephan B, Finan, Chris, Ford, Ian, Ghanbari, Mohsen, Ghasemi, Sahar, Giedraitis, Vilmantas, Giulianini, Franco, Gottdiener, John S, Gross, Stefan, Guðbjartsson, Daníel F, Gutmann, Rebecca, Haggerty, Christopher M, Van Der Harst, Pim, Hyde, Craig L, Ingelsson, Erik, Jukema, J Wouter, Kavousi, Maryam, Khaw, Kay-Tee, Kleber, Marcus E, Køber, Lars, Koekemoer, Andrea, Langenberg, Claudia, Lind, Lars, Lindgren, Cecilia M, London, Barry, Lotta, Luca A, Lovering, Ruth C, Luan, Jian'an, Magnusson, Patrik, Mahajan, Anubha, Margulies, Kenneth B, März, Winfried, Melander, Olle, Mordi, Ify R, Morgan, Thomas, Morris, Andrew D, Morris, Andrew P, Morrison, Alanna C, Nagle, Michael W, Nelson, Christopher P, Niessner, Alexander, Niiranen, Teemu, O'Donoghue, Michelle L, Owens, Anjali T, Palmer, Colin NA, Parry, Helen M, Perola, Markus, Portilla-Fernandez, Eliana, Psaty, Bruce M, Regeneron Genetics Center, Rice, Kenneth M, Ridker, Paul M, Romaine, Simon PR, Rotter, Jerome I, Salo, Perttu, Salomaa, Veikko, Van Setten, Jessica, Shalaby, Alaa A, Smelser, Diane T, Smith, Nicholas L, Stender, Steen, Stott, David J, Svensson, Per, Tammesoo, Mari-Liis, Taylor, Kent D, Teder-Laving, Maris, Teumer, Alexander, Thorgeirsson, Guðmundur, Thorsteinsdottir, Unnur, Torp-Pedersen, Christian, Trompet, Stella, Tyl, Benoit, Uitterlinden, Andre G, Veluchamy, Abirami, Völker, Uwe, Voors, Adriaan A, Wang, Xiaosong, Wareham, Nicholas J, Waterworth, Dawn, Weeke, Peter E, Weiss, Raul, Wiggins, Kerri L, Xing, Heming, Yerges-Armstrong, Laura M, Yu, Bing, Zannad, Faiez, Zhao, Jing Hua, Hemingway, Harry, Samani, Nilesh J, McMurray, John JV, Yang, Jian, Visscher, Peter M, Newton-Cheh, Christopher, Malarstig, Anders, Holm, Hilma, Lubitz, Steven A, Sattar, Naveed, Holmes, Michael V, Cappola, Thomas P, Asselbergs, Folkert W, Hingorani, Aroon D, Kuchenbaecker, Karoline, Ellinor, Patrick T, Lang, Chim C, Stefansson, Kari, Smith, J Gustav, Vasan, Ramachandran S, Swerdlow, Daniel I, and Lumbers, R Thomas

Subjects
2. Zero hunger, Cyclin-Dependent Kinase Inhibitor p21, Heart Failure, Microfilament Proteins, Muscle Proteins, Coronary Artery Disease, Mendelian Randomization Analysis, Ventricular Function, Left, 3. Good health, Risk Factors, Case-Control Studies, Atrial Fibrillation, Humans, Apoptosis Regulatory Proteins, Cardiomyopathies, Carrier Proteins, Adaptor Proteins, Signal Transducing, Genome-Wide Association Study
Abstract

Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded only limited insights, leaving the observed heritability of HF largely unexplained. We report results from a GWAS meta-analysis of HF comprising 47,309 cases and 930,014 controls. Twelve independent variants at 11 genomic loci are associated with HF, all of which demonstrate one or more associations with coronary artery disease (CAD), atrial fibrillation, or reduced left ventricular function, suggesting shared genetic aetiology. Functional analysis of non-CAD-associated loci implicate genes involved in cardiac development (MYOZ1, SYNPO2L), protein homoeostasis (BAG3), and cellular senescence (CDKN1A). Mendelian randomisation analysis supports causal roles for several HF risk factors, and demonstrates CAD-independent effects for atrial fibrillation, body mass index, and hypertension. These findings extend our knowledge of the pathways underlying HF and may inform new therapeutic strategies.

28. Dietary sodium modulates nephropathy in Nedd4-2-deficient mice

Author

John W. Finnie, Tanya L Henshall, Sonia S. Shah, Sharad Kumar, Jantina A. Manning, Andrej Nikolic, Manning, Jantina A, Shah, Sonia S, Henshall, Tanya L, Nikolic, Andrej, Finnie, John, and Kumar, Sharad

Subjects
dietary salt, 0301 basic medicine, Epithelial sodium channel, medicine.medical_specialty, Nedd4 Ubiquitin Protein Ligases, 030232 urology & nephrology, Renal function, macromolecular substances, Nephron, Kidney, patients, Article, keney disease, Nephropathy, Mice, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Animals, Molecular Biology, Mice, Knockout, Kidney diseases, biology, urogenital system, Reabsorption, Chemistry, Sodium, Sodium, Dietary, Cell Biology, medicine.disease, Ubiquitin ligase, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, Ubiquitin ligases, biology.protein, Homeostasis, Kidney disease
Abstract

Salt homeostasis is maintained by tight control of Na+ filtration and reabsorption. In the distal part of the nephron the ubiquitin protein ligase Nedd4-2 regulates membrane abundance and thus activity of the epithelial Na+ channel (ENaC), which is rate-limiting for Na+ reabsorption. Nedd4-2 deficiency in mouse results in elevated ENaC and nephropathy, however the contribution of dietary salt to this has not been characterized. In this study we show that high dietary Na+ exacerbated kidney injury in Nedd4-2-deficient mice, significantly perturbing normal postnatal nephrogenesis and resulting in multifocal areas of renal dysplasia, increased markers of kidney injury and a decline in renal function. In control mice, high dietary Na+ resulted in reduced levels of ENaC. However, Nedd4-2-deficient kidneys maintained elevated ENaC even after high dietary Na+, suggesting that the inability to efficiently downregulate ENaC is responsible for the salt-sensitivity of disease. Importantly, low dietary Na+ significantly ameliorated nephropathy in Nedd4-2-deficient mice. Our results demonstrate that due to dysregulation of ENaC, kidney injury in Nedd4-2-deficient mice is sensitive to dietary Na+, which may have implications in the management of disease in patients with kidney disease.

Published
2019

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