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242 results on '"Ma, Lijiang"'

1. Integrative gene regulatory network analysis discloses key driver genes of fibromuscular dysplasia

Author

d’Escamard, Valentina, Kadian-Dodov, Daniella, Ma, Lijiang, Lu, Sizhao, King, Annette, Xu, Yang, Peng, Shouneng, V′Gangula, Bhargravi, Zhou, Yu, Thomas, Allison, Michelis, Katherine C., Bander, Emir, Bouchareb, Rihab, Georges, Adrien, Nomura-Kitabayashi, Aya, Wiener, Robert J., Costa, Kevin D., Chepurko, Elena, Chepurko, Vadim, Fava, Marika, Barwari, Temo, Anyanwu, Anelechi, Filsoufi, Farzan, Florman, Sander, Bouatia-Naji, Nabila, Schmidt, Lukas E., Mayr, Manuel, Katz, Michael G., Hao, Ke, Weiser-Evans, Mary C. M., Björkegren, Johan L. M., Olin, Jeffrey W., and Kovacic, Jason C.

Published
2024
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2. Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation.

Author

Adlam, David, Berrandou, Takiy-Eddine, Georges, Adrien, Nelson, Christopher, Giannoulatou, Eleni, Henry, Joséphine, Ma, Lijiang, Blencowe, Montgomery, Turley, Tamiel, Yang, Min-Lee, Chopade, Sandesh, Finan, Chris, Braund, Peter, Sadeg-Sayoud, Ines, Iismaa, Siiri, Kosel, Matthew, Zhou, Xiang, Hamby, Stephen, Cheng, Jenny, Liu, Lu, Tarr, Ingrid, Muller, David, dEscamard, Valentina, King, Annette, Brunham, Liam, Baranowska-Clarke, Ania, Debette, Stéphanie, Amouyel, Philippe, Olin, Jeffrey, Patil, Snehal, Hesselson, Stephanie, Junday, Keerat, Kanoni, Stavroula, Aragam, Krishna, Butterworth, Adam, Tweet, Marysia, Gulati, Rajiv, Combaret, Nicolas, Kadian-Dodov, Daniella, Kalman, Jonathan, Fatkin, Diane, Hingorani, Aroon, Saw, Jacqueline, Webb, Tom, Hayes, Sharonne, Yang, Xia, Ganesh, Santhi, Olson, Timothy, Kovacic, Jason, Graham, Robert, Samani, Nilesh, and Bouatia-Naji, Nabila

Subjects
Humans, Female, Genome-Wide Association Study, Vascular Diseases, Coronary Artery Disease, Myocardial Infarction
Abstract

Spontaneous coronary artery dissection (SCAD) is an understudied cause of myocardial infarction primarily affecting women. It is not known to what extent SCAD is genetically distinct from other cardiovascular diseases, including atherosclerotic coronary artery disease (CAD). Here we present a genome-wide association meta-analysis (1,917 cases and 9,292 controls) identifying 16 risk loci for SCAD. Integrative functional annotations prioritized genes that are likely to be regulated in vascular smooth muscle cells and artery fibroblasts and implicated in extracellular matrix biology. One locus containing the tissue factor gene F3, which is involved in blood coagulation cascade initiation, appears to be specific for SCAD risk. Several associated variants have diametrically opposite associations with CAD, suggesting that shared biological processes contribute to both diseases, but through different mechanisms. We also infer a causal role for high blood pressure in SCAD. Our findings provide novel pathophysiological insights involving arterial integrity and tissue-mediated coagulation in SCAD and set the stage for future specific therapeutics and preventions.

Published
2023

3. Sex-specific genetic regulation of adipose mitochondria and metabolic syndrome by Ndufv2

Author

Chella Krishnan, Karthickeyan, Vergnes, Laurent, Acín-Pérez, Rebeca, Stiles, Linsey, Shum, Michael, Ma, Lijiang, Mouisel, Etienne, Pan, Calvin, Moore, Timothy M, Péterfy, Miklós, Romanoski, Casey E, Reue, Karen, Björkegren, Johan LM, Laakso, Markku, Liesa, Marc, and Lusis, Aldons J

Subjects
Medical Biochemistry and Metabolomics, Medical Physiology, Biomedical and Clinical Sciences, Nutrition and Dietetics, Women's Health, Obesity, Diabetes, Nutrition, Genetics, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Metabolic and endocrine, Adipose Tissue, Adiposity, Animals, Biomarkers, Cell Respiration, Chromosomes, Human, Pair 17, Disease Models, Animal, Disease Susceptibility, Female, Gene Expression Profiling, Gene Expression Regulation, Genetic Association Studies, Humans, Male, Metabolic Syndrome, Mice, Mitochondria, NADH Dehydrogenase, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Quantitative Trait, Heritable, Reactive Oxygen Species, Sex Factors, Medical biochemistry and metabolomics, Medical physiology, Nutrition and dietetics
Abstract

We have previously suggested a central role for mitochondria in the observed sex differences in metabolic traits. However, the mechanisms by which sex differences affect adipose mitochondrial function and metabolic syndrome are unclear. Here we show that in both mice and humans, adipose mitochondrial functions are elevated in females and are strongly associated with adiposity, insulin resistance and plasma lipids. Using a panel of diverse inbred strains of mice, we identify a genetic locus on mouse chromosome 17 that controls mitochondrial mass and function in adipose tissue in a sex- and tissue-specific manner. This locus contains Ndufv2 and regulates the expression of at least 89 mitochondrial genes in females, including oxidative phosphorylation genes and those related to mitochondrial DNA content. Overexpression studies indicate that Ndufv2 mediates these effects by regulating supercomplex assembly and elevating mitochondrial reactive oxygen species production, which generates a signal that increases mitochondrial biogenesis.

Published
2021

4. Multi-ancestry genetic analysis of gene regulation in coronary arteries prioritizes disease risk loci

Author

Hodonsky, Chani J., Turner, Adam W., Khan, Mohammad Daud, Barrientos, Nelson B., Methorst, Ruben, Ma, Lijiang, Lopez, Nicolas G., Mosquera, Jose Verdezoto, Auguste, Gaëlle, Farber, Emily, Ma, Wei Feng, Wong, Doris, Onengut-Gumuscu, Suna, Kavousi, Maryam, Peyser, Patricia A., van der Laan, Sander W., Leeper, Nicholas J., Kovacic, Jason C., Björkegren, Johan L.M., and Miller, Clint L.

Published
2024
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5. Genome-wide analysis identifies novel susceptibility loci for myocardial infarction

Author

Hartiala, Jaana A, Han, Yi, Jia, Qiong, Hilser, James R, Huang, Pin, Gukasyan, Janet, Schwartzman, William S, Cai, Zhiheng, Biswas, Subarna, Trégouët, David-Alexandre, Smith, Nicholas L, Consortium, The INVENT, Group, The CHARGE Consortium Hemostasis Working, Consortium, The GENIUS-CHD, Seldin, Marcus, Pan, Calvin, Mehrabian, Margarete, Lusis, Aldons J, Bazeley, Peter, Sun, Yan V, Liu, Chang, Quyyumi, Arshed A, Scholz, Markus, Thiery, Joachim, Delgado, Graciela E, Kleber, Marcus E, März, Winfried, Howe, Laurence J, Asselbergs, Folkert W, van Vugt, Marion, Vlachojannis, Georgios J, Patel, Riyaz S, Lyytikäinen, Leo-Pekka, Kähönen, Mika, Lehtimäki, Terho, Nieminen, Tuomo VM, Kuukasjärvi, Pekka, Laurikka, Jari O, Chang, Xuling, Heng, Chew-Kiat, Jiang, Rong, Kraus, William E, Hauser, Elizabeth R, Ferguson, Jane F, Reilly, Muredach P, Ito, Kaoru, Koyama, Satoshi, Kamatani, Yoichiro, Komuro, Issei, Japan, Biobank, Stolze, Lindsey K, Romanoski, Casey E, Khan, Mohammad Daud, Turner, Adam W, Miller, Clint L, Aherrahrou, Redouane, Civelek, Mete, Ma, Lijiang, Björkegren, Johan LM, Kumar, S Ram, Tang, WH Wilson, Hazen, Stanley L, and Allayee, Hooman

Subjects
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Clinical Sciences, Cardiovascular, Heart Disease, Clinical Research, Heart Disease - Coronary Heart Disease, Human Genome, Genetics, Aging, Atherosclerosis, Aetiology, 2.1 Biological and endogenous factors, Coronary Artery Disease, Endothelial Cells, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Japan, Myocardial Infarction, Polymorphism, Single Nucleotide, Risk Factors, Myocardial infarction, Genetic factors, Genome-wide association study, Meta-analysis, SLC44A3, INVENT Consortium, CHARGE Consortium Hemostasis Working Group, GENIUS-CHD Consortium, Biobank Japan, Cardiorespiratory Medicine and Haematology, Cardiovascular System & Hematology, Cardiovascular medicine and haematology, Clinical sciences
Abstract

AimsWhile most patients with myocardial infarction (MI) have underlying coronary atherosclerosis, not all patients with coronary artery disease (CAD) develop MI. We sought to address the hypothesis that some of the genetic factors which establish atherosclerosis may be distinct from those that predispose to vulnerable plaques and thrombus formation.Methods and resultsWe carried out a genome-wide association study for MI in the UK Biobank (n∼472 000), followed by a meta-analysis with summary statistics from the CARDIoGRAMplusC4D Consortium (n∼167 000). Multiple independent replication analyses and functional approaches were used to prioritize loci and evaluate positional candidate genes. Eight novel regions were identified for MI at the genome wide significance level, of which effect sizes at six loci were more robust for MI than for CAD without the presence of MI. Confirmatory evidence for association of a locus on chromosome 1p21.3 harbouring choline-like transporter 3 (SLC44A3) with MI in the context of CAD, but not with coronary atherosclerosis itself, was obtained in Biobank Japan (n∼165 000) and 16 independent angiography-based cohorts (n∼27 000). Follow-up analyses did not reveal association of the SLC44A3 locus with CAD risk factors, biomarkers of coagulation, other thrombotic diseases, or plasma levels of a broad array of metabolites, including choline, trimethylamine N-oxide, and betaine. However, aortic expression of SLC44A3 was increased in carriers of the MI risk allele at chromosome 1p21.3, increased in ischaemic (vs. non-diseased) coronary arteries, up-regulated in human aortic endothelial cells treated with interleukin-1β (vs. vehicle), and associated with smooth muscle cell migration in vitro.ConclusionsA large-scale analysis comprising ∼831 000 subjects revealed novel genetic determinants of MI and implicated SLC44A3 in the pathophysiology of vulnerable plaques.

Published
2021

6. Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants

Author

Aragam, Krishna G., Jiang, Tao, Goel, Anuj, Kanoni, Stavroula, Wolford, Brooke N., Atri, Deepak S., Weeks, Elle M., Wang, Minxian, Hindy, George, Zhou, Wei, Grace, Christopher, Roselli, Carolina, Marston, Nicholas A., Kamanu, Frederick K., Surakka, Ida, Venegas, Loreto Muñoz, Sherliker, Paul, Koyama, Satoshi, Ishigaki, Kazuyoshi, Åsvold, Bjørn O., Brown, Michael R., Brumpton, Ben, de Vries, Paul S., Giannakopoulou, Olga, Giardoglou, Panagiota, Gudbjartsson, Daniel F., Güldener, Ulrich, Haider, Syed M. Ijlal, Helgadottir, Anna, Ibrahim, Maysson, Kastrati, Adnan, Kessler, Thorsten, Kyriakou, Theodosios, Konopka, Tomasz, Li, Ling, Ma, Lijiang, Meitinger, Thomas, Mucha, Sören, Munz, Matthias, Murgia, Federico, Nielsen, Jonas B., Nöthen, Markus M., Pang, Shichao, Reinberger, Tobias, Schnitzler, Gavin, Smedley, Damian, Thorleifsson, Gudmar, von Scheidt, Moritz, Ulirsch, Jacob C., Arnar, David O., Burtt, Noël P., Costanzo, Maria C., Flannick, Jason, Ito, Kaoru, Jang, Dong-Keun, Kamatani, Yoichiro, Khera, Amit V., Komuro, Issei, Kullo, Iftikhar J., Lotta, Luca A., Nelson, Christopher P., Roberts, Robert, Thorgeirsson, Gudmundur, Thorsteinsdottir, Unnur, Webb, Thomas R., Baras, Aris, Björkegren, Johan L. M., Boerwinkle, Eric, Dedoussis, George, Holm, Hilma, Hveem, Kristian, Melander, Olle, Morrison, Alanna C., Orho-Melander, Marju, Rallidis, Loukianos S., Ruusalepp, Arno, Sabatine, Marc S., Stefansson, Kari, Zalloua, Pierre, Ellinor, Patrick T., Farrall, Martin, Danesh, John, Ruff, Christian T., Finucane, Hilary K., Hopewell, Jemma C., Clarke, Robert, Gupta, Rajat M., Erdmann, Jeanette, Samani, Nilesh J., Schunkert, Heribert, Watkins, Hugh, Willer, Cristen J., Deloukas, Panos, Kathiresan, Sekar, and Butterworth, Adam S.

Published
2022
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8. Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk

Author

Turner, Adam W., Hu, Shengen Shawn, Mosquera, Jose Verdezoto, Ma, Wei Feng, Hodonsky, Chani J., Wong, Doris, Auguste, Gaëlle, Song, Yipei, Sol-Church, Katia, Farber, Emily, Kundu, Soumya, Kundaje, Anshul, Lopez, Nicolas G., Ma, Lijiang, Ghosh, Saikat Kumar B., Onengut-Gumuscu, Suna, Ashley, Euan A., Quertermous, Thomas, Finn, Aloke V., Leeper, Nicholas J., Kovacic, Jason C., Björkegren, Johan L. M., Zang, Chongzhi, and Miller, Clint L.

Published
2022
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9. Author Correction: Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases

Author

Georges, Adrien, Yang, Min-Lee, Berrandou, Takiy-Eddine, Bakker, Mark K., Dikilitas, Ozan, Kiando, Soto Romuald, Ma, Lijiang, Satterfield, Benjamin A., Sengupta, Sebanti, Yu, Mengyao, Deleuze, Jean-François, Dupré, Delia, Hunker, Kristina L., Kyryachenko, Sergiy, Liu, Lu, Sayoud-Sadeg, Ines, Amar, Laurence, Brummett, Chad M., Coleman, Dawn M., d’Escamard, Valentina, de Leeuw, Peter, Fendrikova-Mahlay, Natalia, Kadian-Dodov, Daniella, Li, Jun Z., Lorthioir, Aurélien, Pappaccogli, Marco, Prejbisz, Aleksander, Smigielski, Witold, Stanley, James C., Zawistowski, Matthew, Zhou, Xiang, Zöllner, Sebastian, Amouyel, Philippe, De Buyzere, Marc L., Debette, Stéphanie, Dobrowolski, Piotr, Drygas, Wojciech, Gornik, Heather L., Olin, Jeffrey W., Piwonski, Jerzy, Rietzschel, Ernst R., Ruigrok, Ynte M., Vikkula, Miikka, Warchol Celinska, Ewa, Januszewicz, Andrzej, Kullo, Iftikhar J., Azizi, Michel, Jeunemaitre, Xavier, Persu, Alexandre, Kovacic, Jason C., Ganesh, Santhi K., and Bouatia-Naji, Nabila

Published
2022
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11. Single-Cell Gene-Regulatory Networks of Advanced Symptomatic Atherosclerosis

Author

Centraal Diagnostisch Laboratorium, Circulatory Health, CDL Onderzoek Pasterkamp, Experimentele Afd. Cardiologie 1, Child Health, Mocci, Giuseppe, Sukhavasi, Katyayani, Örd, Tiit, Bankier, Sean, Singha, Prosanta, Arasu, Uma Thanigai, Agbabiaje, Olayinka Oluwasegun, Mäkinen, Petri, Ma, Lijiang, Hodonsky, Chani J., Aherrahrou, Redouane, Muhl, Lars, Liu, Jianping, Gustafsson, Sonja, Byandelger, Byambajav, Wang, Ying, Koplev, Simon, Lendahl, Urban, Owens, Gary K., Leeper, Nicholas J., Pasterkamp, Gerard, Vanlandewijck, Michael, Michoel, Tom, Ruusalepp, Arno, Hao, Ke, Ylä-Herttuala, Seppo, Väli, Marika, Järve, Heli, Mokry, Michal, Civelek, Mete, Miller, Clint J., Kovacic, Jason C., Kaikkonen, Minna U., Betsholtz, Christer, Björkegren, Johan L.M., Centraal Diagnostisch Laboratorium, Circulatory Health, CDL Onderzoek Pasterkamp, Experimentele Afd. Cardiologie 1, Child Health, Mocci, Giuseppe, Sukhavasi, Katyayani, Örd, Tiit, Bankier, Sean, Singha, Prosanta, Arasu, Uma Thanigai, Agbabiaje, Olayinka Oluwasegun, Mäkinen, Petri, Ma, Lijiang, Hodonsky, Chani J., Aherrahrou, Redouane, Muhl, Lars, Liu, Jianping, Gustafsson, Sonja, Byandelger, Byambajav, Wang, Ying, Koplev, Simon, Lendahl, Urban, Owens, Gary K., Leeper, Nicholas J., Pasterkamp, Gerard, Vanlandewijck, Michael, Michoel, Tom, Ruusalepp, Arno, Hao, Ke, Ylä-Herttuala, Seppo, Väli, Marika, Järve, Heli, Mokry, Michal, Civelek, Mete, Miller, Clint J., Kovacic, Jason C., Kaikkonen, Minna U., Betsholtz, Christer, and Björkegren, Johan L.M.

Published
2024

12. Multi-ancestry genetic analysis of gene regulation in coronary arteries prioritizes disease risk loci

Author

CDL Onderzoek Pasterkamp, Circulatory Health, Hodonsky, Chani J, Turner, Adam W, Khan, Mohammad Daud, Barrientos, Nelson B, Methorst, Ruben, Ma, Lijiang, Lopez, Nicolas G, Mosquera, Jose Verdezoto, Auguste, Gaëlle, Farber, Emily, Ma, Wei Feng, Wong, Doris, Onengut-Gumuscu, Suna, Kavousi, Maryam, Peyser, Patricia A, van der Laan, Sander W, Leeper, Nicholas J, Kovacic, Jason C, Björkegren, Johan L M, Miller, Clint L, CDL Onderzoek Pasterkamp, Circulatory Health, Hodonsky, Chani J, Turner, Adam W, Khan, Mohammad Daud, Barrientos, Nelson B, Methorst, Ruben, Ma, Lijiang, Lopez, Nicolas G, Mosquera, Jose Verdezoto, Auguste, Gaëlle, Farber, Emily, Ma, Wei Feng, Wong, Doris, Onengut-Gumuscu, Suna, Kavousi, Maryam, Peyser, Patricia A, van der Laan, Sander W, Leeper, Nicholas J, Kovacic, Jason C, Björkegren, Johan L M, and Miller, Clint L

Published
2024

13. Abstract 12681: GWAS Meta-Analysis in SCAD, a Women Predominant Ischemic Heart Disease, Reveals Common Variants and Genes Related to Artery Integrity and Tissue-Mediated Coagulation

Author

Adlam, David, BERRANDOU, Takiy E, Georges, Adrien, Nelson, Christopher P, Giannoulatou, Eleni, Ma, Lijiang, Blencowe, Montgomory, Turley, Tamiel, Yang, Min-Lee, Iismaa, Siiri, Tarr, Ingrid, Muller, David, Hesselson, Stephanie, Junday, Keerat, Fatkin, Diane, COMBARET, Nicolas, Saw, Jacqueline, Webb, Tom, Tweet, Marysia, Hayes, Sharonne N, Xia, Yang, Ganesh, Santhi, Olson, Timothy M, Kovacic, Jason C, Graham, Robert M, Samani, Nilesh J, and Bouatia-Naji, Nabila

Published
2022
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15. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

Author

Homsy, Jason, Zaidi, Samir, Shen, Yufeng, Ware, James S, Samocha, Kaitlin E, Karczewski, Konrad J, DePalma, Steven R, McKean, David, Wakimoto, Hiroko, Gorham, Josh, Jin, Sheng Chih, Deanfield, John, Giardini, Alessandro, Porter, George A, Kim, Richard, Bilguvar, Kaya, López-Giráldez, Francesc, Tikhonova, Irina, Mane, Shrikant, Romano-Adesman, Angela, Qi, Hongjian, Vardarajan, Badri, Ma, Lijiang, Daly, Mark, Roberts, Amy E, Russell, Mark W, Mital, Seema, Newburger, Jane W, Gaynor, J William, Breitbart, Roger E, Iossifov, Ivan, Ronemus, Michael, Sanders, Stephan J, Kaltman, Jonathan R, Seidman, Jonathan G, Brueckner, Martina, Gelb, Bruce D, Goldmuntz, Elizabeth, Lifton, Richard P, Seidman, Christine E, and Chung, Wendy K

Subjects
Congenital Structural Anomalies, Genetics, Pediatric, Heart Disease, Cardiovascular, Brain, Child, Congenital Abnormalities, Exome, Heart Defects, Congenital, Humans, Mutation, Nervous System Malformations, Neurogenesis, Prognosis, RNA Splicing, RNA Splicing Factors, RNA, Messenger, RNA-Binding Proteins, Repressor Proteins, Transcription, Genetic, General Science & Technology
Abstract

Congenital heart disease (CHD) patients have an increased prevalence of extracardiac congenital anomalies (CAs) and risk of neurodevelopmental disabilities (NDDs). Exome sequencing of 1213 CHD parent-offspring trios identified an excess of protein-damaging de novo mutations, especially in genes highly expressed in the developing heart and brain. These mutations accounted for 20% of patients with CHD, NDD, and CA but only 2% of patients with isolated CHD. Mutations altered genes involved in morphogenesis, chromatin modification, and transcriptional regulation, including multiple mutations in RBFOX2, a regulator of mRNA splicing. Genes mutated in other cohorts examined for NDD were enriched in CHD cases, particularly those with coexisting NDD. These findings reveal shared genetic contributions to CHD, NDD, and CA and provide opportunities for improved prognostic assessment and early therapeutic intervention in CHD patients.

Published
2015

16. Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases

Author

Georges, Adrien, Yang, Min-Lee, Berrandou, Takiy-Eddine, Bakker, Mark K., Dikilitas, Ozan, Kiando, Soto Romuald, Ma, Lijiang, Satterfield, Benjamin A., Sengupta, Sebanti, Yu, Mengyao, Deleuze, Jean-François, Dupré, Delia, Hunker, Kristina L., Kyryachenko, Sergiy, Liu, Lu, Sayoud-Sadeg, Ines, Amar, Laurence, Brummett, Chad M., Coleman, Dawn M., d’Escamard, Valentina, de Leeuw, Peter, Fendrikova-Mahlay, Natalia, Kadian-Dodov, Daniella, Li, Jun Z., Lorthioir, Aurélien, Pappaccogli, Marco, Prejbisz, Aleksander, Smigielski, Witold, Stanley, James C., Zawistowski, Matthew, Zhou, Xiang, Zöllner, Sebastian, Amouyel, Philippe, De Buyzere, Marc L., Debette, Stéphanie, Dobrowolski, Piotr, Drygas, Wojciech, Gornik, Heather L., Olin, Jeffrey W., Piwonski, Jerzy, Rietzschel, Ernst R., Ruigrok, Ynte M., Vikkula, Miikka, Warchol Celinska, Ewa, Januszewicz, Andrzej, Kullo, Iftikhar J., Azizi, Michel, Jeunemaitre, Xavier, Persu, Alexandre, Kovacic, Jason C., Ganesh, Santhi K., and Bouatia-Naji, Nabila

Published
2021
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17. Author Correction: Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk

Author

Turner, Adam W., Hu, Shengen Shawn, Mosquera, Jose Verdezoto, Ma, Wei Feng, Hodonsky, Chani J., Wong, Doris, Auguste, Gaëlle, Song, Yipei, Sol-Church, Katia, Farber, Emily, Kundu, Soumya, Kundaje, Anshul, Lopez, Nicolas G., Ma, Lijiang, Ghosh, Saikat Kumar B., Onengut-Gumuscu, Suna, Ashley, Euan A., Quertermous, Thomas, Finn, Aloke V., Leeper, Nicholas J., Kovacic, Jason C., Björkegren, Johan L. M., Zang, Chongzhi, and Miller, Clint L.

Published
2022
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20. De novo mutations in histone-modifying genes in congenital heart disease.

Author

Zaidi, Samir, Choi, Murim, Wakimoto, Hiroko, Ma, Lijiang, Jiang, Jianming, Overton, John, Romano-Adesman, Angela, Bjornson, Robert, Breitbart, Roger, Brown, Kerry, Carriero, Nicholas, Cheung, Yee, Deanfield, John, DePalma, Steve, Fakhro, Khalid, Glessner, Joseph, Hakonarson, Hakon, Italia, Michael, Kaltman, Jonathan, Kaski, Juan, Kim, Richard, Kline, Jennie, Lee, Teresa, Leipzig, Jeremy, Lopez, Alexander, Mane, Shrikant, Mitchell, Laura, Newburger, Jane, Parfenov, Michael, Peer, Itsik, Porter, George, Roberts, Amy, Sachidanandam, Ravi, Subramanian, Sailakshmi, Tikhonova, Irina, Wang, Wei, Warburton, Dorothy, White, Peter, Williams, Ismee, Zhao, Hongyu, Seidman, Jonathan, Brueckner, Martina, Chung, Wendy, Gelb, Bruce, Goldmuntz, Elizabeth, Seidman, Christine, Lifton, Richard, Seiden, Howard, State, Matthew, and Sanders, Stephan

Subjects
Adult, Case-Control Studies, Child, Chromatin, DNA Mutational Analysis, Enhancer Elements, Genetic, Exome, Female, Genes, Developmental, Heart Diseases, Histones, Humans, Lysine, Male, Methylation, Mutation, Odds Ratio, Promoter Regions, Genetic
Abstract

Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live births. Many cases occur sporadically and impair reproductive fitness, suggesting a role for de novo mutations. Here we compare the incidence of de novo mutations in 362 severe CHD cases and 264 controls by analysing exome sequencing of parent-offspring trios. CHD cases show a significant excess of protein-altering de novo mutations in genes expressed in the developing heart, with an odds ratio of 7.5 for damaging (premature termination, frameshift, splice site) mutations. Similar odds ratios are seen across the main classes of severe CHD. We find a marked excess of de novo mutations in genes involved in the production, removal or reading of histone 3 lysine 4 (H3K4) methylation, or ubiquitination of H2BK120, which is required for H3K4 methylation. There are also two de novo mutations in SMAD2, which regulates H3K27 methylation in the embryonic left-right organizer. The combination of both activating (H3K4 methylation) and inactivating (H3K27 methylation) chromatin marks characterizes poised promoters and enhancers, which regulate expression of key developmental genes. These findings implicate de novo point mutations in several hundreds of genes that collectively contribute to approximately 10% of severe CHD.

Published
2013

21. Functional investigation of the coronary artery disease gene SVEP1

Author

Winkler, Michael J., Müller, Philipp, Sharifi, Amin M., Wobst, Jana, Winter, Hanna, Mokry, Michal, Ma, Lijiang, van der Laan, Sander W., Pang, Shichao, Miritsch, Benedikt, Hinterdobler, Julia, Werner, Julia, Stiller, Barbara, Güldener, Ulrich, Webb, Tom R., Asselbergs, Folkert W., Björkegren, Johan L. M., Maegdefessel, Lars, Schunkert, Heribert, Sager, Hendrik B., and Kessler, Thorsten

Published
2020
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22. Genetic Regulation of Atherosclerosis-Relevant Phenotypes in Human Vascular Smooth Muscle Cells

Author

Aherrahrou, Redouane, Guo, Liang, Nagraj, V. Peter, Aguhob, Aaron, Hinkle, Jameson, Chen, Lisa, Yuhl Soh, Joon, Lue, Dillon, Alencar, Gabriel F., Boltjes, Arjan, van der Laan, Sander W., Farber, Emily, Fuller, Daniela, Anane-Wae, Rita, Akingbesote, Ngozi, Manichaikul, Ani W., Ma, Lijiang, Kaikkonen, Minna U., Björkegren, Johan L.M., Önengüt-Gümüşcü, Suna, Pasterkamp, Gerard, Miller, Clint L., Owens, Gary K., Finn, Aloke, Navab, Mohamad, Fogelman, Alan M., Berliner, Judith A., and Civelek, Mete

Published
2020
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24. Histone deacetylase 9 promotes endothelial-mesenchymal transition and an unfavorable atherosclerotic plaque phenotype

Author

Lecce, Laura, Xu, Yang, V'Gangula, Bhargavi, Chandel, Nirupama, Pothula, Venu, Caudrillier, Axelle, Santini, Maria Paola, d'Escamard, Valentina, Ceholski, Delaine K., Gorski, Przemek A., Ma, Lijiang, Koplev, Simon, Bjorklund, Martin Maeng, Bjorkegren, Johan L.M., Boehm, Manfred, Bentzon, Jacob Fog, Fuster, Valentin, Kim, Ha Won, Weintraub, Neal L., Baker, Andrew H., Bernstein, Emily, and Kovacic, Jason C.

Subjects
Atherosclerotic plaque -- Development and progression -- Genetic aspects, Cardiovascular research, Stem cells -- Genetic aspects -- Health aspects, Cell differentiation -- Genetic aspects -- Health aspects, Epithelial cells -- Health aspects -- Genetic aspects, Phenotype -- Research, Health care industry
Abstract

Endothelial-mesenchymal transition (EndMT) is associated with various cardiovascular diseases and in particular with atherosclerosis and plaque instability. However, the molecular pathways that govern EndMT are poorly defined. Specifically, the role of epigenetic factors and histone deacetylases (HDACs) in controlling EndMT and the atherosclerotic plaque phenotype remains unclear. Here, we identified histone deacetylation, specifically that mediated by HDAC9 (a class Ila HDAC), as playing an important role in both EndMT and atherosclerosis. Using in vitro models, we found class Ila HDAC inhibition sustained the expression of endothelial proteins and mitigated the increase in mesenchymal proteins, effectively blocking EndMT. Similarly, ex vivo genetic knockout of Hdac9 in endothelial cells prevented EndMT and preserved a more endothelial-like phenotype. In vivo, atherosclerosis-prone mice with endothelial-specific Hdac9 knockout showed reduced EndMT and significantly reduced plaque area. Furthermore, these mice displayed a more favorable plaque phenotype, with reduced plaque lipid content and increased fibrous cap thickness. Together, these findings indicate that HDAC9 contributes to vascular pathology by promoting EndMT. Our study provides evidence for a pathological link among EndMT, HDAC9, and atherosclerosis and suggests that targeting of HDAC9 may be beneficial for plaque stabilization or slowing the progression of atherosclerotic disease., Introduction Endothelial-mesenchymal transition (EndMT) is an essential process during cardiac development, contributing to cardiac valve formation and the stabilization of new vasculature in the developing embryo (1, 2). EndMT also [...]

Published
2021
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25. FHL5 Controls Vascular Disease–Associated Gene Programs in Smooth Muscle Cells

Author

Wong, Doris, primary, Auguste, Gaëlle, additional, Lino Cardenas, Christian L., additional, Turner, Adam W., additional, Chen, Yixuan, additional, Song, Yipei, additional, Ma, Lijiang, additional, Perry, R. Noah, additional, Aherrahrou, Redouane, additional, Kuppusamy, Maniselvan, additional, Yang, Chaojie, additional, Mosquera, Jose Verdezoto, additional, Dube, Collin J., additional, Khan, Mohammad Daud, additional, Palmore, Meredith, additional, Kalra, Jaspreet K., additional, Kavousi, Maryam, additional, Peyser, Patricia A., additional, Matic, Ljubica, additional, Hedin, Ulf, additional, Manichaikul, Ani, additional, Sonkusare, Swapnil K., additional, Civelek, Mete, additional, Kovaci, Jason C., additional, Björkegren, Johan L.M., additional, Malhotra, Rajeev, additional, and Miller, Clint L., additional

Published
2023
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26. Supplementary Figures 1-4 from Pten Inactivation Accelerates Oncogenic K-ras–Initiated Tumorigenesis in a Mouse Model of Lung Cancer

Author

Iwanaga, Kentaro, primary, Yang, Yanan, primary, Raso, Maria Gabriela, primary, Ma, Lijiang, primary, Hanna, Amy E., primary, Thilaganathan, Nishan, primary, Moghaddam, Seyed, primary, Evans, Christopher M., primary, Li, Huaiguang, primary, Cai, Wei-Wen, primary, Sato, Mitsuo, primary, Minna, John D., primary, Wu, Hong, primary, Creighton, Chad J., primary, Demayo, Francesco J., primary, Wistuba, Ignacio I., primary, and Kurie, Jonathan M., primary

Published
2023
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27. Data from Pten Inactivation Accelerates Oncogenic K-ras–Initiated Tumorigenesis in a Mouse Model of Lung Cancer

Author

Iwanaga, Kentaro, primary, Yang, Yanan, primary, Raso, Maria Gabriela, primary, Ma, Lijiang, primary, Hanna, Amy E., primary, Thilaganathan, Nishan, primary, Moghaddam, Seyed, primary, Evans, Christopher M., primary, Li, Huaiguang, primary, Cai, Wei-Wen, primary, Sato, Mitsuo, primary, Minna, John D., primary, Wu, Hong, primary, Creighton, Chad J., primary, Demayo, Francesco J., primary, Wistuba, Ignacio I., primary, and Kurie, Jonathan M., primary

Published
2023
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28. Supplementary Table 3 from Pten Inactivation Accelerates Oncogenic K-ras–Initiated Tumorigenesis in a Mouse Model of Lung Cancer

Author

Iwanaga, Kentaro, primary, Yang, Yanan, primary, Raso, Maria Gabriela, primary, Ma, Lijiang, primary, Hanna, Amy E., primary, Thilaganathan, Nishan, primary, Moghaddam, Seyed, primary, Evans, Christopher M., primary, Li, Huaiguang, primary, Cai, Wei-Wen, primary, Sato, Mitsuo, primary, Minna, John D., primary, Wu, Hong, primary, Creighton, Chad J., primary, Demayo, Francesco J., primary, Wistuba, Ignacio I., primary, and Kurie, Jonathan M., primary

Published
2023
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29. Supplementary Figure Legends 1-4 from Pten Inactivation Accelerates Oncogenic K-ras–Initiated Tumorigenesis in a Mouse Model of Lung Cancer

Author

Iwanaga, Kentaro, primary, Yang, Yanan, primary, Raso, Maria Gabriela, primary, Ma, Lijiang, primary, Hanna, Amy E., primary, Thilaganathan, Nishan, primary, Moghaddam, Seyed, primary, Evans, Christopher M., primary, Li, Huaiguang, primary, Cai, Wei-Wen, primary, Sato, Mitsuo, primary, Minna, John D., primary, Wu, Hong, primary, Creighton, Chad J., primary, Demayo, Francesco J., primary, Wistuba, Ignacio I., primary, and Kurie, Jonathan M., primary

Published
2023
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30. Supplementary Tables 1-2 from Pten Inactivation Accelerates Oncogenic K-ras–Initiated Tumorigenesis in a Mouse Model of Lung Cancer

Author

Iwanaga, Kentaro, primary, Yang, Yanan, primary, Raso, Maria Gabriela, primary, Ma, Lijiang, primary, Hanna, Amy E., primary, Thilaganathan, Nishan, primary, Moghaddam, Seyed, primary, Evans, Christopher M., primary, Li, Huaiguang, primary, Cai, Wei-Wen, primary, Sato, Mitsuo, primary, Minna, John D., primary, Wu, Hong, primary, Creighton, Chad J., primary, Demayo, Francesco J., primary, Wistuba, Ignacio I., primary, and Kurie, Jonathan M., primary

Published
2023
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31. Genetic Regulation of SMC Gene Expression and Splicing Predict Causal CAD Genes

Author

Experimental Cardiology Laboratory, Experimentele Afd. Cardiologie 1, Onderzoek Vrouw Hart & Vaatziekten, Circulatory Health, Aherrahrou, Rédouane, Lue, Dillon, Perry, R. Noah, Aberra, Yonathan Tamrat, Khan, Mohammad Daud, Soh, Joon Yuhl, Örd, Tiit, Singha, Prosanta, Yang, Qianyi, Gilani, Huda, Benavente, Ernest Diez, Wong, Doris, Hinkle, Jameson, Ma, Lijiang, Sheynkman, Gloria M., Den Ruijter, Hester M., Miller, Clint L., Björkegren, Johan L.M., Kaikkonen, Minna U., Civelek, Mete, Experimental Cardiology Laboratory, Experimentele Afd. Cardiologie 1, Onderzoek Vrouw Hart & Vaatziekten, Circulatory Health, Aherrahrou, Rédouane, Lue, Dillon, Perry, R. Noah, Aberra, Yonathan Tamrat, Khan, Mohammad Daud, Soh, Joon Yuhl, Örd, Tiit, Singha, Prosanta, Yang, Qianyi, Gilani, Huda, Benavente, Ernest Diez, Wong, Doris, Hinkle, Jameson, Ma, Lijiang, Sheynkman, Gloria M., Den Ruijter, Hester M., Miller, Clint L., Björkegren, Johan L.M., Kaikkonen, Minna U., and Civelek, Mete

Published
2023

32. Integrative multi-ancestry genetic analysis of gene regulation in coronary arteries prioritizes disease risk loci

Author

CDL Onderzoek Pasterkamp, Circulatory Health, Hodonsky, Chani J, Turner, Adam W, Khan, Mohammad Daud, Barrientos, Nelson B, Methorst, Ruben, Ma, Lijiang, Lopez, Nicolas G, Mosquera, Jose Verdezoto, Auguste, Gaëlle, Farber, Emily, Ma, Wei Feng, Wong, Doris, Onengut-Gumuscu, Suna, Kavousi, Maryam, Peyser, Patricia A, van der Laan, Sander W, Leeper, Nicholas J, Kovacic, Jason C, Björkegren, Johan L M, Miller, Clint L, CDL Onderzoek Pasterkamp, Circulatory Health, Hodonsky, Chani J, Turner, Adam W, Khan, Mohammad Daud, Barrientos, Nelson B, Methorst, Ruben, Ma, Lijiang, Lopez, Nicolas G, Mosquera, Jose Verdezoto, Auguste, Gaëlle, Farber, Emily, Ma, Wei Feng, Wong, Doris, Onengut-Gumuscu, Suna, Kavousi, Maryam, Peyser, Patricia A, van der Laan, Sander W, Leeper, Nicholas J, Kovacic, Jason C, Björkegren, Johan L M, and Miller, Clint L

Published
2023

33. Integrative multi-ancestry genetic analysis of gene regulation in coronary arteries prioritizes disease risk loci

Author

Hodonsky, Chani J., primary, Turner, Adam W., additional, Khan, Mohammad Daud, additional, Barrientos, Nelson B., additional, Methorst, Ruben, additional, Ma, Lijiang, additional, Lopez, Nicolas G., additional, Mosquera, Jose Verdezoto, additional, Auguste, Gaëlle, additional, Farber, Emily, additional, Ma, Wei Feng, additional, Wong, Doris, additional, Onengut-Gumuscu, Suna, additional, Kavousi, Maryam, additional, Peyser, Patricia A., additional, van der Laan, Sander W., additional, Leeper, Nicholas J., additional, Kovacic, Jason C., additional, Björkegren, Johan L.M., additional, and Miller, Clint L., additional

Published
2023
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34. Genetic Regulation of SMC Gene Expression and Splicing Predict Causal CAD Genes

Author

Aherrahrou, Rédouane, primary, Lue, Dillon, additional, Perry, R. Noah, additional, Aberra, Yonathan Tamrat, additional, Khan, Mohammad Daud, additional, Soh, Joon Yuhl, additional, Örd, Tiit, additional, Singha, Prosanta, additional, Yang, Qianyi, additional, Gilani, Huda, additional, Benavente, Ernest Diez, additional, Wong, Doris, additional, Hinkle, Jameson, additional, Ma, Lijiang, additional, Sheynkman, Gloria M., additional, den Ruijter, Hester M., additional, Miller, Clint L., additional, Björkegren, Johan L.M., additional, Kaikkonen, Minna U., additional, and Civelek, Mete, additional

Published
2023
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35. Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants

Author

Aragam, Krishna G, Jiang, Tao, Goel, Anuj, Kanoni, Stavroula, Wolford, Brooke N, Atri, Deepak S, Weeks, Elle M, Wang, Minxian, Hindy, George, Zhou, Wei, Grace, Christopher, Roselli, Carolina, Marston, Nicholas A, Kamanu, Frederick K, Surakka, Ida, Venegas, Loreto Muñoz, Sherliker, Paul, Koyama, Satoshi, Ishigaki, Kazuyoshi, Åsvold, Bjørn O, Brown, Michael R, Brumpton, Ben, De Vries, Paul S, Giannakopoulou, Olga, Giardoglou, Panagiota, Gudbjartsson, Daniel F, Güldener, Ulrich, Haider, Syed M Ijlal, Helgadottir, Anna, Ibrahim, Maysson, Kastrati, Adnan, Kessler, Thorsten, Kyriakou, Theodosios, Konopka, Tomasz, Li, Ling, Ma, Lijiang, Meitinger, Thomas, Mucha, Sören, Munz, Matthias, Murgia, Federico, Nielsen, Jonas B, Nöthen, Markus M, Pang, Shichao, Reinberger, Tobias, Schnitzler, Gavin, Smedley, Damian, Thorleifsson, Gudmar, Von Scheidt, Moritz, Ulirsch, Jacob C, Danesh, John, Arnar, David O, Burtt, Noël P, Costanzo, Maria C, Flannick, Jason, Ito, Kaoru, Jang, Dong-Keun, Kamatani, Yoichiro, Khera, Amit V, Komuro, Issei, Kullo, Iftikhar J, Lotta, Luca A, Nelson, Christopher P, Roberts, Robert, Thorgeirsson, Gudmundur, Thorsteinsdottir, Unnur, Webb, Thomas R, Baras, Aris, Björkegren, Johan LM, Boerwinkle, Eric, Dedoussis, George, Holm, Hilma, Hveem, Kristian, Melander, Olle, Morrison, Alanna C, Orho-Melander, Marju, Rallidis, Loukianos S, Ruusalepp, Arno, Sabatine, Marc S, Stefansson, Kari, Zalloua, Pierre, Ellinor, Patrick T, Farrall, Martin, Ruff, Christian T, Finucane, Hilary K, Hopewell, Jemma C, Clarke, Robert, Gupta, Rajat M, Erdmann, Jeanette, Samani, Nilesh J, Schunkert, Heribert, Watkins, Hugh, Willer, Cristen J, Deloukas, Panos, Kathiresan, Sekar, Butterworth, Adam S, Aragam, Krishna G [0000-0003-3223-9131], Goel, Anuj [0000-0003-2307-4021], Kanoni, Stavroula [0000-0002-1691-9615], Wolford, Brooke N [0000-0003-3153-1552], Atri, Deepak S [0000-0001-8139-5419], Weeks, Elle M [0000-0002-4317-4444], Wang, Minxian [0000-0002-3753-508X], Zhou, Wei [0000-0001-7719-0859], Roselli, Carolina [0000-0001-5267-6756], Kamanu, Frederick K [0000-0001-7208-1047], Koyama, Satoshi [0000-0002-9286-0360], Ishigaki, Kazuyoshi [0000-0003-2881-0657], Åsvold, Bjørn O [0000-0003-3837-2101], Brumpton, Ben [0000-0002-3058-1059], Gudbjartsson, Daniel F [0000-0002-5222-9857], Güldener, Ulrich [0000-0001-5052-8610], Helgadottir, Anna [0000-0002-1806-2467], Kessler, Thorsten [0000-0003-3326-1621], Li, Ling [0000-0002-3280-9475], Mucha, Sören [0000-0002-1647-2526], Munz, Matthias [0000-0002-4728-3357], Murgia, Federico [0000-0002-3608-845X], Pang, Shichao [0000-0002-4111-2864], Smedley, Damian [0000-0002-5836-9850], Thorleifsson, Gudmar [0000-0003-4623-9087], von Scheidt, Moritz [0000-0001-7159-8271], Ulirsch, Jacob C [0000-0002-7947-0827], Costanzo, Maria C [0000-0001-9043-693X], Flannick, Jason [0000-0002-3618-795X], Ito, Kaoru [0000-0003-1843-773X], Khera, Amit V [0000-0001-6535-5839], Komuro, Issei [0000-0002-0714-7182], Kullo, Iftikhar J [0000-0002-6524-3471], Roberts, Robert [0000-0002-6792-4633], Webb, Thomas R [0000-0001-5998-8226], Baras, Aris [0000-0002-6830-3396], Björkegren, Johan LM [0000-0003-1945-7425], Holm, Hilma [0000-0002-9517-6636], Morrison, Alanna C [0000-0001-6381-4296], Orho-Melander, Marju [0000-0002-3578-2503], Stefansson, Kari [0000-0003-1676-864X], Farrall, Martin [0000-0003-4564-2165], Finucane, Hilary K [0000-0003-3864-9828], Clarke, Robert [0000-0002-9802-8241], Erdmann, Jeanette [0000-0002-4486-6231], Samani, Nilesh J [0000-0002-3286-8133], Schunkert, Heribert [0000-0001-6428-3001], Watkins, Hugh [0000-0002-5287-9016], Willer, Cristen J [0000-0001-5645-4966], Kathiresan, Sekar [0000-0002-3711-7101], Butterworth, Adam S [0000-0002-6915-9015], and Apollo - University of Cambridge Repository

Subjects
692/699/75/2, 631/208/205/2138, article, Humans, Coronary Artery Disease, Genome-Wide Association Study
Abstract

Funder: K.G.A. has received support from the American Heart Association Institute for Precision Cardiovascular Medicine (17IFUNP3384001), a KL2/Catalyst Medical Research Investigator Training (CMeRIT) award from the Harvard Catalyst (KL2 TR002542), and the NIH (1K08HL153937)., Funder: B.N.W is supported by the National Science Foundation Graduate Research Program (DGE 1256260)., Funder: I.S. is supported by a Precision Health Scholars Award from the University of Michigan Medical School., Funder: I.K., S.Ko., and K.It. are funded by the Japan Agency for Medical Research and Development, AMED, under Grant Numbers JP16ek0109070h0003, JP18kk0205008h0003, JP18kk0205001s0703, JP20km0405209, and JP20ek0109487. The BioBank Japan is supported by AMED under Grant Number JP20km0605001., Funder: J.L.M.B. acknowledges research support from NIH R01HL125863, American Heart Association (A14SFRN20840000), the Swedish Research Council (2018-02529) and Heart Lung Foundation (20170265) and the Foundation Leducq (PlaqueOmics: Novel Roles of Smooth Muscle and Other Matrix Producing Cells in Atherosclerotic Plaque Stability and Rupture, 18CVD02., Funder: P.S.dV was supported by American Heart Association grant number 18CDA34110116 and National Heart, Lung, and Blood Institute grant R01HL146860. The Atherosclerosis Risk in Communities study has been funded in whole or in part with Federal funds from the National Heart, Lung, and Blood Institute, National Institutes of Health, Department of Health and Human Services (contract numbers HHSN268201700001I, HHSN268201700002I, HHSN268201700003I, HHSN268201700004I and HHSN268201700005I), R01HL087641, R01HL059367 and R01HL086694; National Human Genome Research Institute contract U01HG004402; and National Institutes of Health contract HHSN268200625226C. The authors thank the staff and participants of the ARIC study for their important contributions. Infrastructure was partly supported by Grant Number UL1RR025005, a component of the National Institutes of Health and NIH Roadmap for Medical Research., Funder: O.G. has received funding from the British Heart Foundation (BHF) (FS/14/66/3129)., Funder: T.K. is supported by the Corona-Foundation (Junior Research Group Translational Cardiovascular Genomics) and the German Research Foundation (DFG) as part of the Sonderforschungsbereich SFB 1123 (B02)., Funder: D.S.A. has received support from a training grant from the NIH (T32HL007604)., Funder: N.P.B., M.C.C., J.F., and D.-K.J. have been funded by the National Institute of Diabetes and Digestive and Kidney Diseases (2UM1DK105554)., Funder: A.V.K. has been funded by 1K08HG010155 from the National Human Genome Research Institute., Funder: C.P.N. and T.R.W received funding from the British Heart Foundation (SP/16/4/32697)., Funder: The Trøndelag Health Study (The HUNT Study) is a collaboration between HUNT Research Centre (Faculty of Medicine and Health Sciences, NTNU, Norwegian University of Science and Technology), Trøndelag County Council, Central Norway Regional Health Authority, and the Norwegian Institute of Public Health. The K.G. Jebsen Center for Genetic Epidemiology is financed by Stiftelsen Kristian Gerhard Jebsen; Faculty of Medicine and Health Sciences, NTNU, Norwegian University of Science and Technology; and Central Norway Regional Health Authority. Whole genome sequencing for the HUNT study was funded by HL109946., Funder: O.M. was funded by the Swedish Heart- and Lung Foundation, the Swedish Research Council, the European Research Council ERC-AdG-2019-885003 and Lund University Infrastructure grant ”Malmö population-based cohorts” (STYR 2019/2046)., Funder: This work was supported by the European Commission (HEALTH-F2–2013-601456) and the TriPartite Immunometabolism Consortium [TrIC]- NovoNordisk Foundation (NNF15CC0018486), VIAgenomics (SP/19/2/344612), the British Heart Foundation, a Wellcome Trust core award (M.F., H.W., 203141/Z/16/Z) and support from the NIHR Oxford Biomedical Research Centre. M.F. and H.W. are members of the Oxford BHF Centre of Research Excellence (RE/13/1/30181). The views expressed are those of the authors and not necessarily those of the NHS, the NIHR or the Department of Health., Funder: J.D. is a British Heart Foundation Professor, European Research Council Senior Investigator, and National Institute for Health Research (NIHR) Senior Investigator., Funder: J.C.H. acknowledges personal funding from the British Heart Foundation (FS/14/55/30806) and is a member of the Oxford BHF Centre of Research Excellence (RE/13/1/30181)., Funder: R.C. has received funding from the British Heart Foundation and British Heart Foundation Centre of Research Excellence., Funder: This research was supported by BHF (SP/13/2/30111) and conducted using the UK Biobank Resource (application number 9922)., Funder: The GerMIFs gratefully acknowledge the support of the Bavarian State Ministry of Health and Care, furthermore founded this work within its framework of DigiMed Bayern (grant No: DMB-1805-0001), the German Federal Ministry of Education and Research (BMBF) within the framework of ERA-NET on Cardiovascular Disease (Druggable-MI-genes: 01KL1802), within the scheme of target validation (BlockCAD: 16GW0198K), within the framework of the e:Med research and funding concept (AbCD-Net: 01ZX1706C), the British Heart Foundation (BHF)/German Centre of Cardiovascular Research (DZHK)-collaboration (VIAgenomics) and the German Research Foundation (DFG) as part of the Sonderforschungsbereich SFB 1123 (B02) and the Sonderforschungsbereich SFB TRR 267 (B05)., Funder: C.J.W. is funded by NIH grant R35-HL135824., Funder: This work was supported by the British Heart Foundation (BHF) grant RG/14/5/30893 (P.D.) and forms part of the research themes contributing to the translational research portfolios of the Barts Biomedical Research Centre funded by the UK National Institute for Health Research (NIHR)., The discovery of genetic loci associated with complex diseases has outpaced the elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide association study (GWAS) for coronary artery disease (CAD) comprising 181,522 cases among 1,165,690 participants of predominantly European ancestry. We detected 241 associations, including 30 new loci. Cross-ancestry meta-analysis with a Japanese GWAS yielded 38 additional new loci. We prioritized likely causal variants using functionally informed fine-mapping, yielding 42 associations with less than five variants in the 95% credible set. Similarity-based clustering suggested roles for early developmental processes, cell cycle signaling and vascular cell migration and proliferation in the pathogenesis of CAD. We prioritized 220 candidate causal genes, combining eight complementary approaches, including 123 supported by three or more approaches. Using CRISPR–Cas9, we experimentally validated the effect of an enhancer in MYO9B, which appears to mediate CAD risk by regulating vascular cell motility. Our analysis identifies and systematically characterizes >250 risk loci for CAD to inform experimental interrogation of putative causal mechanisms for CAD.

Published
2022
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36. De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

Author

Ma, Lijiang, Bayram, Yavuz, McLaughlin, Heather M., Cho, Megan T., Krokosky, Alyson, Turner, Clesson E., Lindstrom, Kristin, Bupp, Caleb P., Mayberry, Katey, Mu, Weiyi, Bodurtha, Joann, Weinstein, Veronique, Zadeh, Neda, Alcaraz, Wendy, Powis, Zöe, Shao, Yunru, Scott, Daryl A., Lewis, Andrea M., White, Janson J., Jhangiani, Shalani N., Gulec, Elif Yilmaz, Lalani, Seema R., Lupski, James R., Retterer, Kyle, Schnur, Rhonda E., Wentzensen, Ingrid M., Bale, Sherri, and Chung, Wendy K.

Published
2016
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37. Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease

Author

Zhu, Na, Welch, Carrie L., Wang, Jiayao, Allen, Philip M., Gonzaga-Jauregui, Claudia, Ma, Lijiang, King, Alejandra K., Krishnan, Usha, Rosenzweig, Erika B., Ivy, D. Dunbar, Austin, Eric D., Hamid, Rizwan, Pauciulo, Michael W., Lutz, Katie A., Nichols, William C., Reid, Jeffrey G., Overton, John D., Baras, Aris, Dewey, Frederick E., Shen, Yufeng, and Chung, Wendy K.

Published
2018
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38. FHL5 controls vascular disease-associated gene programs in smooth muscle cells

Author

Wong, Doris, primary, Auguste, Gaëlle, additional, Lino Cardenas, Christian L., additional, Turner, Adam W., additional, Chen, Yixuan, additional, Ma, Lijiang, additional, Perry, R. Noah, additional, Aherrahrou, Redouane, additional, Kuppusamy, Maniselvan, additional, Yang, Chaojie, additional, Mosquera, Jose Verdezoto, additional, Dube, Collin J., additional, Khan, Mohammad Daud, additional, Palmore, Meredith, additional, Kavousi, Maryam, additional, Peyser, Patricia A., additional, Matic, Ljubica, additional, Hedin, Ulf, additional, Manichaikul, Ani, additional, Sonkusare, Swapnil K., additional, Civelek, Mete, additional, Kovacic, Jason C., additional, Björkegren, Johan L.M., additional, Malhotra, Rajeev, additional, and Miller, Clint L., additional

Published
2022
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39. The HDAC9-associated risk locus promotes coronary artery disease by governing TWIST1

Author

Ma, Lijiang, primary, Bryce, Nicole S., additional, Turner, Adam W., additional, Di Narzo, Antonio F., additional, Rahman, Karishma, additional, Xu, Yang, additional, Ermel, Raili, additional, Sukhavasi, Katyayani, additional, d’Escamard, Valentina, additional, Chandel, Nirupama, additional, V’Gangula, Bhargavi, additional, Wolhuter, Kathryn, additional, Kadian-Dodov, Daniella, additional, Franzen, Oscar, additional, Ruusalepp, Arno, additional, Hao, Ke, additional, Miller, Clint L., additional, Björkegren, Johan L. M., additional, and Kovacic, Jason C., additional

Published
2022
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40. Author Correction: Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Author

UCL - SSS/IREC/CARD - Pôle de recherche cardiovasculaire, UCL - (SLuc) Département cardiovasculaire, Georges, Adrien, Yang, Min-Lee, Berrandou, Takiy-Eddine, Bakker, Mark K, Dikilitas, Ozan, Kiando, Soto Romuald, Ma, Lijiang, Satterfield, Benjamin A, Sengupta, Sebanti, Yu, Mengyao, Deleuze, Jean-François, Dupré, Delia, Hunker, Kristina L, Kyryachenko, Sergiy, Liu, Lu, Sayoud-Sadeg, Ines, Amar, Laurence, Brummett, Chad M, Coleman, Dawn M, d'Escamard, Valentina, de Leeuw, Peter, Fendrikova-Mahlay, Natalia, Kadian-Dodov, Daniella, Li, Jun Z, Lorthioir, Aurélien, Pappaccogli, Marco, Prejbisz, Aleksander, Smigielski, Witold, Stanley, James C, Zawistowski, Matthew, Zhou, Xiang, Zöllner, Sebastian, FEIRI investigators, International Stroke Genetics Consortium (ISGC) Intracranial Aneurysm Working Group, MEGASTROKE, Amouyel, Philippe, De Buyzere, Marc L, Debette, Stéphanie, Dobrowolski, Piotr, Drygas, Wojciech, Gornik, Heather L, Olin, Jeffrey W, Piwonski, Jerzy, Rietzschel, Ernst R, Ruigrok, Ynte M, Vikkula, Miikka, Warchol Celinska, Ewa, Januszewicz, Andrzej, Kullo, Iftikhar J, Azizi, Michel, ARCADIA Investigators, Jeunemaitre, Xavier, Persu, Alexandre, Kovacic, Jason C, Ganesh, Santhi K, Bouatia-Naji, Nabila, UCL - SSS/IREC/CARD - Pôle de recherche cardiovasculaire, UCL - (SLuc) Département cardiovasculaire, Georges, Adrien, Yang, Min-Lee, Berrandou, Takiy-Eddine, Bakker, Mark K, Dikilitas, Ozan, Kiando, Soto Romuald, Ma, Lijiang, Satterfield, Benjamin A, Sengupta, Sebanti, Yu, Mengyao, Deleuze, Jean-François, Dupré, Delia, Hunker, Kristina L, Kyryachenko, Sergiy, Liu, Lu, Sayoud-Sadeg, Ines, Amar, Laurence, Brummett, Chad M, Coleman, Dawn M, d'Escamard, Valentina, de Leeuw, Peter, Fendrikova-Mahlay, Natalia, Kadian-Dodov, Daniella, Li, Jun Z, Lorthioir, Aurélien, Pappaccogli, Marco, Prejbisz, Aleksander, Smigielski, Witold, Stanley, James C, Zawistowski, Matthew, Zhou, Xiang, Zöllner, Sebastian, FEIRI investigators, International Stroke Genetics Consortium (ISGC) Intracranial Aneurysm Working Group, MEGASTROKE, Amouyel, Philippe, De Buyzere, Marc L, Debette, Stéphanie, Dobrowolski, Piotr, Drygas, Wojciech, Gornik, Heather L, Olin, Jeffrey W, Piwonski, Jerzy, Rietzschel, Ernst R, Ruigrok, Ynte M, Vikkula, Miikka, Warchol Celinska, Ewa, Januszewicz, Andrzej, Kullo, Iftikhar J, Azizi, Michel, ARCADIA Investigators, Jeunemaitre, Xavier, Persu, Alexandre, Kovacic, Jason C, Ganesh, Santhi K, and Bouatia-Naji, Nabila

Abstract

No abstract available

Published
2022

41. Abstract 14753: Loss of Function ABCC8 Mutations Are Associated With Pulmonary Arterial Hypertension

Author

Bohnen, Michael S, Ma, Lijiang, Zhu, Na, Qi, Hongjian, McClenaghan, Conor, Gonzaga-Jauregui, Claudia, Dewey, Frederick E, Overton, John D, Reid, Jeffrey G, Shuldiner, Alan R, Baras, Aris, Sampson, Kevin J, Bleda, Marta, Hadinnapola, Charaka, Haimel, Matthias, Bogaard, Harm J, Church, Colin, Coghlan, Gerry, Corris, Paul A, Eyries, Mélanie, Gibbs, J. Simon R, Girerd, Barbara, Houweling, Arjan C, Humbert, Marc, Kiely, David G, Lawrie, Allan, MacKenzie Ross, Rob V, Martin, Jennifer M, Montani, David, Peacock, Andrew J, Pepke-Zaba, Joanna, Soubrier, Florent, Suntharalingam, Jay, Toshner, Mark, Treacy, Carmen M, Trembath, Richard C, Vonk Noordegraaf, Anton, Wharton, John, Wilkins, Martin R, Wort, Stephen J, Yates, Katherine, Gräf, Stefan, Morrell, Nicholas W, Krishnan, Usha, Rosenzweig, Erika B, Shen, Yufeng, Nichols, Colin G, Kass, Robert S, and Chung, Wendy K

Published
2017

44. Integrative Prioritization of Causal Genes for Coronary Artery Disease

Author

Hao, Ke, primary, Ermel, Raili, additional, Sukhavasi, Katyayani, additional, Cheng, Haoxiang, additional, Ma, Lijiang, additional, Li, Ling, additional, Amadori, Letizia, additional, Koplev, Simon, additional, Franzén, Oscar, additional, d’Escamard, Valentina, additional, Chandel, Nirupama, additional, Wolhuter, Kathryn, additional, Bryce, Nicole S., additional, Venkata, Vamsidhar R.M., additional, Miller, Clint L., additional, Ruusalepp, Arno, additional, Schunkert, Heribert, additional, Björkegren, Johan L.M., additional, and Kovacic, Jason C., additional

Published
2022
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46. HUMAN GENETICS: De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

Author

Homsy, Jason, Zaidi, Samir, Shen, Yufeng, Ware, James S., Samocha, Kaitlin E., Karczewski, Konrad J., DePalma, Steven R., McKean, David, Wakdmoto, Hiroko, Gorham, Josh, Jin, Sheng Chih, Deanfield, John, Giardini, Alessandro, Porter, George A., Jr., Kim, Richard, Bilguvar, Kaya, López-Giráldez, Francesc, Tikhonova, Irina, Mane, Shrikant, Romano-Adesman, Angela, Qi, Hongjian, Vardarajan, Badri, Ma, Lijiang, Daly, Mark, Roberts, Amy E., Russell, Mark W., Mital, Seema, Newburger, Jane W., Gaynor, William J., Breitbart, Roger E., Iossifov, Ivan, Ronemus, Michael, Sanders, Stephan J., Kaltman, Jonathan R., Seidman, Jonathan G., Brueckner, Martina, Gelb, Bruce D., Goldmuntz, Elizabeth, Lifton, Richard P., Seidman, Christine E., and Chung, Wendy K.

Published
2015
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47. Abstract MP39: FHL5 , A Novel Cofactor Associated With Coronary Artery Disease, Regulates Smooth Muscle Cell Function Through A Transcriptional Network Linking Multiple Risk Loci

Author

Wong, Doris, primary, Turner, Adam, additional, Khan, Mohammad Daud, additional, Palmore, Meredith, additional, Perry, Noah, additional, kuppusamy, maniselvan, additional, Ottolini, Matteo, additional, Matic, Ljubica, additional, Hedin, Ulf, additional, Ma, Lijiang, additional, Sonkusare, Swapnil K, additional, Civelek, Mete, additional, Kovacic, Jason C, additional, Bjorkegren, Johan, additional, and Miller, Clint L, additional

Published
2021
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48. Abstract 113: Cell-specific Chromatin Landscape Of Human Coronary Artery Resolves Mechanisms Of Disease Risk

Author

Turner, Adam W, primary, Hu, Sheng-en, additional, Verdezoto Mosquera, Jose E, additional, Ma, Wei Feng, additional, Hodonsky, Chani J, additional, Wong, Doris, additional, Auguste, Gaelle E, additional, sol-church, katia, additional, Farber, Emily, additional, Kundu, Soumya, additional, Kundaje, Anshul B, additional, Lopez, Nicolas G, additional, Ma, Lijiang, additional, Ghosh, Saikat, additional, Onengut-Gumuscu, Suna, additional, Ashley, Euan A, additional, Quertermous, Thomas, additional, Finn, Aloke, additional, Leeper, Nick J, additional, Kovacic, Jason C, additional, Bjorkegren, Johan L, additional, Zang, Chongzhi, additional, and Miller, Clint L, additional

Published
2021
Full Text
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50. Cell-specific chromatin landscape of human coronary artery resolves regulatory mechanisms of disease risk

Author

Turner, Adam W., primary, Hu, Sheng’en, additional, Mosquera, Jose Verdezoto, additional, Ma, Wei Feng, additional, Hodonsky, Chani J., additional, Wong, Doris, additional, Auguste, Gaëlle, additional, Sol-Church, Katia, additional, Farber, Emily, additional, Kundu, Soumya, additional, Kundaje, Anshul, additional, Lopez, Nicolas G., additional, Ma, Lijiang, additional, Ghosh, Saikat Kumar B., additional, Onengut-Gumuscu, Suna, additional, Ashley, Euan A., additional, Quertermous, Thomas, additional, Finn, Aloke V., additional, Leeper, Nicholas J., additional, Kovacic, Jason C., additional, Björkgren, Johan L.M., additional, Zang, Chongzhi, additional, and Miller, Clint L., additional

Published
2021
Full Text
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