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Start Over Author "Ferrario, Paola G." Topic cell adhesion molecules
3 results on '"Ferrario, Paola G."'

1. Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.

Author

Stitziel NO, Stirrups KE, Masca NG, Erdmann J, Ferrario PG, König IR, Weeke PE, Webb TR, Auer PL, Schick UM, Lu Y, Zhang H, Dube MP, Goel A, Farrall M, Peloso GM, Won HH, Do R, van Iperen E, Kanoni S, Kruppa J, Mahajan A, Scott RA, Willenberg C, Braund PS, van Capelleveen JC, Doney AS, Donnelly LA, Asselta R, Merlini PA, Duga S, Marziliano N, Denny JC, Shaffer CM, El-Mokhtari NE, Franke A, Gottesman O, Heilmann S, Hengstenberg C, Hoffman P, Holmen OL, Hveem K, Jansson JH, Jöckel KH, Kessler T, Kriebel J, Laugwitz KL, Marouli E, Martinelli N, McCarthy MI, Van Zuydam NR, Meisinger C, Esko T, Mihailov E, Escher SA, Alver M, Moebus S, Morris AD, Müller-Nurasyid M, Nikpay M, Olivieri O, Lemieux Perreault LP, AlQarawi A, Robertson NR, Akinsanya KO, Reilly DF, Vogt TF, Yin W, Asselbergs FW, Kooperberg C, Jackson RD, Stahl E, Strauch K, Varga TV, Waldenberger M, Zeng L, Kraja AT, Liu C, Ehret GB, Newton-Cheh C, Chasman DI, Chowdhury R, Ferrario M, Ford I, Jukema JW, Kee F, Kuulasmaa K, Nordestgaard BG, Perola M, Saleheen D, Sattar N, Surendran P, Tregouet D, Young R, Howson JM, Butterworth AS, Danesh J, Ardissino D, Bottinger EP, Erbel R, Franks PW, Girelli D, Hall AS, Hovingh GK, Kastrati A, Lieb W, Meitinger T, Kraus WE, Shah SH, McPherson R, Orho-Melander M, Melander O, Metspalu A, Palmer CN, Peters A, Rader D, Reilly MP, Loos RJ, Reiner AP, Roden DM, Tardif JC, Thompson JR, Wareham NJ, Watkins H, Willer CJ, Kathiresan S, Deloukas P, Samani NJ, and Schunkert H

Subjects
Aged, Angiopoietin-Like Protein 4, Female, Genotyping Techniques, Humans, Lipoprotein Lipase antagonists & inhibitors, Lipoprotein Lipase metabolism, Male, Middle Aged, Mutation, Missense, Risk Factors, Sequence Analysis, DNA, Triglycerides genetics, Angiopoietins genetics, Cell Adhesion Molecules genetics, Coronary Artery Disease genetics, Lipoprotein Lipase genetics, Mutation, Triglycerides blood
Abstract

Background: The discovery of low-frequency coding variants affecting the risk of coronary artery disease has facilitated the identification of therapeutic targets., Methods: Through DNA genotyping, we tested 54,003 coding-sequence variants covering 13,715 human genes in up to 72,868 patients with coronary artery disease and 120,770 controls who did not have coronary artery disease. Through DNA sequencing, we studied the effects of loss-of-function mutations in selected genes., Results: We confirmed previously observed significant associations between coronary artery disease and low-frequency missense variants in the genes LPA and PCSK9. We also found significant associations between coronary artery disease and low-frequency missense variants in the genes SVEP1 (p.D2702G; minor-allele frequency, 3.60%; odds ratio for disease, 1.14; P=4.2×10(-10)) and ANGPTL4 (p.E40K; minor-allele frequency, 2.01%; odds ratio, 0.86; P=4.0×10(-8)), which encodes angiopoietin-like 4. Through sequencing of ANGPTL4, we identified 9 carriers of loss-of-function mutations among 6924 patients with myocardial infarction, as compared with 19 carriers among 6834 controls (odds ratio, 0.47; P=0.04); carriers of ANGPTL4 loss-of-function alleles had triglyceride levels that were 35% lower than the levels among persons who did not carry a loss-of-function allele (P=0.003). ANGPTL4 inhibits lipoprotein lipase; we therefore searched for mutations in LPL and identified a loss-of-function variant that was associated with an increased risk of coronary artery disease (p.D36N; minor-allele frequency, 1.9%; odds ratio, 1.13; P=2.0×10(-4)) and a gain-of-function variant that was associated with protection from coronary artery disease (p.S447*; minor-allele frequency, 9.9%; odds ratio, 0.94; P=2.5×10(-7))., Conclusions: We found that carriers of loss-of-function mutations in ANGPTL4 had triglyceride levels that were lower than those among noncarriers; these mutations were also associated with protection from coronary artery disease. (Funded by the National Institutes of Health and others.).

Published
2016
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2. Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

Author

Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators, Stitziel, Nathan O, Stirrups, Kathleen E, Masca, Nicholas GD, Erdmann, Jeanette, Ferrario, Paola G, König, Inke R, Weeke, Peter E, Webb, Thomas R, Auer, Paul L, Schick, Ursula M, Lu, Yingchang, Zhang, He, Dube, Marie-Pierre, Goel, Anuj, Farrall, Martin, Peloso, Gina M, Won, Hong-Hee, Do, Ron, van Iperen, Erik, Kanoni, Stavroula, Kruppa, Jochen, Mahajan, Anubha, Scott, Robert A, Willenberg, Christina, Braund, Peter S, van Capelleveen, Julian C, Doney, Alex SF, Donnelly, Louise A, Asselta, Rosanna, Merlini, Piera A, Duga, Stefano, Marziliano, Nicola, Denny, Josh C, Shaffer, Christian M, El-Mokhtari, Nour Eddine, Franke, Andre, Gottesman, Omri, Heilmann, Stefanie, Hengstenberg, Christian, Hoffman, Per, Holmen, Oddgeir L, Hveem, Kristian, Jansson, Jan-Håkan, Jöckel, Karl-Heinz, Kessler, Thorsten, Kriebel, Jennifer, Laugwitz, Karl L, Marouli, Eirini, Martinelli, Nicola, McCarthy, Mark I, Van Zuydam, Natalie R, Meisinger, Christa, Esko, Tõnu, Mihailov, Evelin, Escher, Stefan A, Alver, Maris, Moebus, Susanne, Morris, Andrew D, Müller-Nurasyid, Martina, Nikpay, Majid, Olivieri, Oliviero, Lemieux Perreault, Louis-Philippe, AlQarawi, Alaa, Robertson, Neil R, Akinsanya, Karen O, Reilly, Dermot F, Vogt, Thomas F, Yin, Wu, Asselbergs, Folkert W, Kooperberg, Charles, Jackson, Rebecca D, Stahl, Eli, Strauch, Konstantin, Varga, Tibor V, Waldenberger, Melanie, Zeng, Lingyao, Kraja, Aldi T, Liu, Chunyu, Ehret, George B, Newton-Cheh, Christopher, Chasman, Daniel I, Chowdhury, Rajiv, Ferrario, Marco, Ford, Ian, Jukema, J Wouter, Kee, Frank, Kuulasmaa, Kari, Nordestgaard, Børge G, Perola, Markus, Saleheen, Danish, Sattar, Naveed, Surendran, Praveen, Tregouet, David, Young, Robin, Howson, Joanna MM, Butterworth, Adam S, Danesh, John, Ardissino, Diego, Bottinger, Erwin P, Erbel, Raimund, Franks, Paul W, Girelli, Domenico, Hall, Alistair S, Hovingh, G Kees, Kastrati, Adnan, Lieb, Wolfgang, Meitinger, Thomas, Kraus, William E, Shah, Svati H, McPherson, Ruth, Orho-Melander, Marju, Melander, Olle, Metspalu, Andres, Palmer, Colin NA, Peters, Annette, Rader, Daniel, Reilly, Muredach P, Loos, Ruth JF, Reiner, Alex P, Roden, Dan M, Tardif, Jean-Claude, Thompson, John R, Wareham, Nicholas J, Watkins, Hugh, Willer, Cristen J, Kathiresan, Sekkar, Deloukas, Panos, Samani, Nilesh J, Schunkert, Heribert, Johnson, Kathleen [0000-0002-6823-3252], Chowdhury, Rajiv [0000-0003-4881-5690], Surendran, Praveen [0000-0002-4911-6077], Howson, Joanna [0000-0001-7618-0050], Butterworth, Adam [0000-0002-6915-9015], Danesh, John [0000-0003-1158-6791], Wareham, Nicholas [0000-0003-1422-2993], and Apollo - University of Cambridge Repository

Subjects
Male, Genotyping Techniques, education, Mutation, Missense, Coronary Artery Disease, Sequence Analysis, DNA, Middle Aged, Lipoprotein Lipase, Risk Factors, Mutation, Angiopoietin-Like Protein 4, Humans, Female, Angiopoietins, Cell Adhesion Molecules, Triglycerides, Aged
Abstract

BACKGROUND: The discovery of low-frequency coding variants affecting the risk of coronary artery disease has facilitated the identification of therapeutic targets. METHODS: Through DNA genotyping, we tested 54,003 coding-sequence variants covering 13,715 human genes in up to 72,868 patients with coronary artery disease and 120,770 controls who did not have coronary artery disease. Through DNA sequencing, we studied the effects of loss-of-function mutations in selected genes. RESULTS: We confirmed previously observed significant associations between coronary artery disease and low-frequency missense variants in the genes LPA and PCSK9. We also found significant associations between coronary artery disease and low-frequency missense variants in the genes SVEP1 (p.D2702G; minor-allele frequency, 3.60%; odds ratio for disease, 1.14; P=4.2×10(-10)) and ANGPTL4 (p.E40K; minor-allele frequency, 2.01%; odds ratio, 0.86; P=4.0×10(-8)), which encodes angiopoietin-like 4. Through sequencing of ANGPTL4, we identified 9 carriers of loss-of-function mutations among 6924 patients with myocardial infarction, as compared with 19 carriers among 6834 controls (odds ratio, 0.47; P=0.04); carriers of ANGPTL4 loss-of-function alleles had triglyceride levels that were 35% lower than the levels among persons who did not carry a loss-of-function allele (P=0.003). ANGPTL4 inhibits lipoprotein lipase; we therefore searched for mutations in LPL and identified a loss-of-function variant that was associated with an increased risk of coronary artery disease (p.D36N; minor-allele frequency, 1.9%; odds ratio, 1.13; P=2.0×10(-4)) and a gain-of-function variant that was associated with protection from coronary artery disease (p.S447*; minor-allele frequency, 9.9%; odds ratio, 0.94; P=2.5×10(-7)). CONCLUSIONS: We found that carriers of loss-of-function mutations in ANGPTL4 had triglyceride levels that were lower than those among noncarriers; these mutations were also associated with protection from coronary artery disease. (Funded by the National Institutes of Health and others.).

Published
2016

3. Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

Author

Stitziel, Nathan O, Stirrups, Kathleen E, Masca, Nicholas G D, Erdmann, Jeanette, Ferrario, Paola G, König, Inke R, Weeke, Peter E, Webb, Thomas R, Auer, Paul L, Schick, Ursula M, Lu, Yingchang, Zhang, He, Dube, Marie-Pierre, Goel, Anuj, Farrall, Martin, Peloso, Gina M, Won, Hong-Hee, Do, Ron, van Iperen, Erik, Kanoni, Stavroula, Kruppa, Jochen, Mahajan, Anubha, Scott, Robert A, Willenberg, Christina, Braund, Peter S, van Capelleveen, Julian C, Doney, Alex S F, Donnelly, Louise A, Asselta, Rosanna, Merlini, Piera A, Duga, Stefano, Marziliano, Nicola, Denny, Josh C, Shaffer, Christian M, El-Mokhtari, Nour Eddine, Franke, Andre, Gottesman, Omri, Heilmann, Stefanie, Hengstenberg, Christian, Hoffman, Per, Holmen, Oddgeir L, Hveem, Kristian, Jansson, Jan-Håkan, Jöckel, Karl-Heinz, Kessler, Thorsten, Kriebel, Jennifer, Laugwitz, Karl L, Marouli, Eirini, Martinelli, Nicola, Asselbergs, Folkert W, and Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators

Subjects
Male, Genotyping Techniques, Research Support, Non-U.S. Gov't, Mutation, Missense, Coronary Artery Disease, Sequence Analysis, DNA, Middle Aged, Lipoprotein Lipase, Research Support, N.I.H., Extramural, Risk Factors, Mutation, Journal Article, Humans, Female, Angiopoietins, Cell Adhesion Molecules, Triglycerides, Aged
Abstract

BACKGROUND: The discovery of low-frequency coding variants affecting the risk of coronary artery disease has facilitated the identification of therapeutic targets. METHODS: Through DNA genotyping, we tested 54,003 coding-sequence variants covering 13,715 human genes in up to 72,868 patients with coronary artery disease and 120,770 controls who did not have coronary artery disease. Through DNA sequencing, we studied the effects of loss-of-function mutations in selected genes. RESULTS: We confirmed previously observed significant associations between coronary artery disease and low-frequency missense variants in the genes LPA and PCSK9. We also found significant associations between coronary artery disease and low-frequency missense variants in the genes SVEP1 (p.D2702G; minor-allele frequency, 3.60%; odds ratio for disease, 1.14; P=4.2×10(-10)) and ANGPTL4 (p.E40K; minor-allele frequency, 2.01%; odds ratio, 0.86; P=4.0×10(-8)), which encodes angiopoietin-like 4. Through sequencing of ANGPTL4, we identified 9 carriers of loss-of-function mutations among 6924 patients with myocardial infarction, as compared with 19 carriers among 6834 controls (odds ratio, 0.47; P=0.04); carriers of ANGPTL4 loss-of-function alleles had triglyceride levels that were 35% lower than the levels among persons who did not carry a loss-of-function allele (P=0.003). ANGPTL4 inhibits lipoprotein lipase; we therefore searched for mutations in LPL and identified a loss-of-function variant that was associated with an increased risk of coronary artery disease (p.D36N; minor-allele frequency, 1.9%; odds ratio, 1.13; P=2.0×10(-4)) and a gain-of-function variant that was associated with protection from coronary artery disease (p.S447*; minor-allele frequency, 9.9%; odds ratio, 0.94; P=2.5×10(-7)). CONCLUSIONS: We found that carriers of loss-of-function mutations in ANGPTL4 had triglyceride levels that were lower than those among noncarriers; these mutations were also associated with protection from coronary artery disease. (Funded by the National Institutes of Health and others.).

Published
2016

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