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1. A Global Declaration on Appropriate Use of Antimicrobial Agents across the Surgical Pathway

Author: Sartelli, M. Kluger, Y. Ansaloni, L. Carlet, J. Brink, A. Hardcastle, T.C. Khanna, A. Chicom-Mefire, A. Rodríguez-Baño, J. Nathwani, D. Mendelson, M. Watkins, R.R. Pulcini, C. Beović, B. May, A.K. Itani, K.M.F. Mazuski, J.E. Fry, D.E. Coccolini, F. Rasxa, K. Montravers, P. Eckmann, C. Abbo, L.M. Abubakar, S. Abu-Zidan, F.M. Adesunkanmi, A.K. Al-Hasan, M.N. Althani, A.A. Ticas, J.E.A. Ansari, S. Ansumana, R. Da Silva, A.R.A. Augustin, G. Bala, M. Balogh, Z.J. Baraket, O. Bassetti, M. Bellanova, G. Beltran, M.A. Ben-Ishay, O. Biffl, W.L. Boermeester, M.A. Brecher, S.M. Bueno, J. Cainzos, M.A. Cairns, K. Camacho-Ortiz, A. Ceresoli, M. Chandy, S.J. Cherry-Bukowiec, J.R. Cirocchi, R. Colak, E. Corcione, A. Cornely, O.A. Cortese, F. Cui, Y. Curcio, D. Damaskos, D. Dasx, K. Delibegovic, S. Demetrashvili, Z. De Simone, B. De Souza, H.P. De Waele, J. Dhingra, S. Diaz, J.J. Di Carlo, I. Di Marzo, F. Di Saverio, S. Dogjani, A. Dorj, G. Dortet, L. Duane, T.M. Dupont, H. Egiev, V.N. Eid, H.O. Elmangory, M. El-Sayed Marei, H. Enani, M.A. Escandón-Vargas, K. Faro, M.P., Jr. Ferrada, P. Foghetti, D. Foianini, E. Fraga, G.P. Frattima, S. Gandhi, C. Gattuso, G. Giamarellou, E. Ghnnam, W. Gkiokas, G. Girardis, M. Goff, D.A. Gomes, C.A. Gomi, H. Gronerth, R.I.G. Guirao, X. Guzman-Blanco, M. Haque, M. Hecker, A. Hell, M. Herzog, T. Hicks, L. Kafka-Ritsch, R. Kao, L.S. Kanj, S.S. Kaplan, L.J. Kapoor, G. Karamarkovic, A. Kashuk, J. Kenig, J. Khamis, F. Khokha, V. Kiguba, R. Kirkpatrick, A.W. Kørner, H. Koike, K. Kok, K.Y.Y. Kon, K. Kong, V. Inaba, K. Ioannidis, O. Isik, A. Iskandar, K. Labbate, M. Labricciosa, F.M. Lagrou, K. Lagunes, L. Latifi, R. Lasithiotakis, K. Laxminarayan, R. Lee, J.G. Leone, M. Leppäniemi, A. Li, Y. Liang, S.Y. Liau, K.-H. Litvin, A. Loho, T. Lowman, W. Machain, G.M. Maier, R.V. Manzano-Nunez, R. Marinis, A. Marmorale, C. Martin-Loeches, I. Marwah, S. Maseda, E. McFarlane, M. De Melo, R.B. Melotti, M.R. Memish, Z. Mertz, D. Mesina, C. Menichetti, F. Mishra, S.K. Montori, G. Moore, E.E. Moore, F.A. Naidoo, N. Napolitano, L. Negoi, I. Nicolau, D.P. Nikolopoulos, I. Nord, C.E. Ofori-Asenso, R. Olaoye, I. Omari, A.H. Ordoñez, C.A. Ouadii, M. Ouedraogo, A.-S. Pagani, L. Paiva, J.A. Parreira, J.G. Pata, F. Pereira, J. Pereira, N.R. Petrosillo, N. Picetti, E. Pintar, T. Ponce-De-Leon, A. Popovski, Z. Poulakou, G. Preller, J. Guerrero, A.P. Pupelis, G. Quiodettis, M. Rawson, T.M. Reichert, M. Reinhart, K. Rems, M. Rello, J. Rizoli, S. Roberts, J. Rubio-Perez, I. Ruppé, E. Sakakushev, B. Sall, I. Kafil, H.S. Sanders, J. Sato, N. Sawyer, R.G. Scalea, T. Scibé, R. Scudeller, L. Lohse, H.S. Sganga, G. Shafiq, N. Shah, J.N. Spigaglia, P. Suroowan, S. Tsioutis, C. Sifri, C.D. Siribumrungwong, B. Sugrue, M. Talving, P. Tan, B.K. Tarasconi, A. Tascini, C. Tilsed, J. Timsit, J.-F. Tumbarello, M. Trung, N.T. Ulrych, J. Uranues, S. Velmahos, G. Vereczkei, A.G. Viale, P. Estape, J.V. Viscoli, C. Wagenlehner, F. Wright, B.J. Xiao, Y. Yuan, K.-C. Zachariah, S.K. Zahar, J.R. Mergulhão, P. Catena, F.
Abstract: This declaration, signed by an interdisciplinary task force of 234 experts from 83 different countries with different backgrounds, highlights the threat posed by antimicrobial resistance and the need for appropriate use of antibiotic agents and antifungal agents in hospitals worldwide especially focusing on surgical infections. As such, it is our intent to raise awareness among healthcare workers and improve antimicrobial prescribing. To facilitate its dissemination, the declaration was translated in different languages. © Copyright 2017, Mary Ann Liebert, Inc.
Published: 2017

2. Erratum: Antimicrobials: A global alliance for optimizing their rational use in intra-abdominal infections (AGORA). [World J Emerg Surg. 11, (2016) (33)] DOI: 10.1186/s13017-016-0089-y

Author: Sartelli, M. Weber, D.G. Ruppé, E. Bassetti, M. Wright, B.J. Ansaloni, L. Catena, F. Coccolini, F. Abu-Zidan, F.M. Coimbra, R. Moore, E.E. Moore, F.A. Maier, R.V. De Waele, J.J. Kirkpatrick, A.W. Griffiths, E.A. Eckmann, C. Brink, A.J. Mazuski, J.E. May, A.K. Sawyer, R.G. Mertz, D. Montravers, P. Kumar, A. Roberts, J.A. Vincent, J.L. Watkins, R.R. Lowman, W. Spellberg, B. Abbott, I.J. Adesunkanmi, A.K. Al-Dahir, S. Al-Hasan, M.N. Agresta, F. Althani, A.A. Ansari, S. Ansumana, R. Augustin, G. Bala, M. Balogh, Z.J. Baraket, O. Bhangu, A. Beltrán, M.A. Bernhard, M. Biffl, W.L. Boermeester, M.A. Brecher, S.M. Cherry-Bukowiec, J.R. Buyne, O.R. Cainzos, M.A. Cairns, K.A. Camacho-Ortiz, A. Chandy, S.J. Che Jusoh, A. Chichom-Mefire, A. Colijn, C. Corcione, F. Cui, Y. Curcio, D. Delibegovic, S. Demetrashvili, Z. De Simone, B. Dhingra, S. Diaz, J.J. Di Carlo, I. Dillip, A. Di Saverio, S. Doyle, M.P. Dorj, G. Dogjani, A. Dupont, H. Eachempati, S.R. Enani, M.A. Egiev, V.N. Elmangory, M.M. Ferrada, P. Fitchett, J.R. Fraga, G.P. Guessennd, N. Giamarellou, H. Ghnnam, W. Gkiokas, G. Goldberg, S.R. Gomes, C.A. Gomi, H. Guzmán-Blanco, M. Haque, M. Hansen, S. Hecker, A. Heizmann, W.R. Herzog, T. Hodonou, A.M. Hong, S.K. Kafka-Ritsch, R. Kaplan, L.J. Kapoor, G. Karamarkovic, A. Kees, M.G. Kenig, J. Kiguba, R. Kim, P.K. Kluger, Y. Khokha, V. Koike, K. Kok, K.Y. Kong, V. Knox, M.C. Inaba, K. Isik, A. Iskandar, K. Ivatury, R.R. Labbate, M. Labricciosa, F.M. Laterre, P.F. Latifi, R. Lee, J.G. Lee, Y.R. Leone, M. Leppaniemi, A. Li, Y. Liang, S.Y. Loho, T. Maegele, M. Malama, S. Marei, H.E. Martin-Loeches, I. Marwah, S. Massele, A. McFarlane, M. Melo, R.B. Negoi, I. Nicolau, D.P. Nord, C.E. Ofori-Asenso, R. Omari, A.H. Ordonez, C.A. Ouadii, M. Pereira Júnior, G.A. Piazza, D. Pupelis, G. Rawson, T.M. Rems, M. Rizoli, S. Rocha, C. Sakakushev, B. Sanchez-Garcia, M. Sato, N. Segovia Lohse, H.A. Sganga, G. Siribumrungwong, B. Shelat, V.G. Soreide, K. Soto, R. Talving, P. Tilsed, J.V. Timsit, J.F. Trueba, G. Trung, N.T. Ulrych, J. van Goor, H. Vereczkei, A. Vohra, R.S. Wani, I. Uhl, W. Xiao, Y. Yuan, K.C. Zachariah, S.K. Zahar, J.R. Zakrison, T.L. Corcione, A. Melotti, R.M. Viscoli, C. Viale, P.
Subjects: lipids (amino acids, peptides, and proteins)
Abstract: The original article [1] contains an error whereby a co-author, Boris Sakakushev has their family name spelt incorrectly as 'Sakakhushev'. The authors would therefore like it known that the correct spelling of the family name is 'Sakakushev'. © The Author(s).
Published: 2017

3. Antimicrobials: a global alliance for optimizing their rational use in intra-abdominal infections (AGORA)

Author: Sartelli, M., Weber, D.G., Ruppe, E., Bassetti, M., Wright, B.J., Ansaloni, L., Catena, F., Coccolini, F., Abu-Zidan, F.M., Coimbra, R., Moore, E.E., Moore, F.A., Maier, R.V., Waele, J.J. De, Kirkpatrick, A.W., Griffiths, E.A., Eckmann, C., Brink, A.J., Mazuski, J.E., May, A.K., Sawyer, R.G., Mertz, D., Montravers, P., Kumar, A., Roberts, J.A., Vincent, J.L., Watkins, R.R., Lowman, W., Spellberg, B., Abbott, I.J., Adesunkanmi, A.K., Al-Dahir, S., Al-Hasan, M.N., Agresta, F., Althani, A.A., Ansari, S., Ansumana, R., Augustin, G., Bala, M., Balogh, Z.J., Baraket, O., Bhangu, A., Beltran, M.A., Bernhard, M., Biffl, W.L., Boermeester, M.A., Brecher, S.M., Cherry-Bukowiec, J.R., Buyne, O.R., Cainzos, M.A., Cairns, K.A., Camacho-Ortiz, A., Chandy, S.J., Jusoh, A. Che, Chichom-Mefire, A., Colijn, C., Corcione, F., Cui, Y., Curcio, D., Delibegovic, S., Demetrashvili, Z., Simone, B. De, Dhingra, S., Diaz, J.J., Carlo, I. Di, Dillip, A., Saverio, S. Di, Doyle, M.P., Dorj, G., Dogjani, A., Dupont, H., Eachempati, S.R., Enani, M.A., Egiev, V.N., Elmangory, M.M., Ferrada, P., Fitchett, J.R., Fraga, G.P., Guessennd, N., Giamarellou, H., Ghnnam, W., Gkiokas, G., Goldberg, S.R., Gomes, C.A., Gomi, H., Guzman-Blanco, M., Haque, M., Hansen, S., Hecker, A., Heizmann, W.R., Herzog, T., Hodonou, A.M., Hong, S.K., Kafka-Ritsch, R., Kaplan, L.J., Kapoor, G., Karamarkovic, A., Kees, M.G., Kenig, J., Kiguba, R., et al., Sartelli, M., Weber, D.G., Ruppe, E., Bassetti, M., Wright, B.J., Ansaloni, L., Catena, F., Coccolini, F., Abu-Zidan, F.M., Coimbra, R., Moore, E.E., Moore, F.A., Maier, R.V., Waele, J.J. De, Kirkpatrick, A.W., Griffiths, E.A., Eckmann, C., Brink, A.J., Mazuski, J.E., May, A.K., Sawyer, R.G., Mertz, D., Montravers, P., Kumar, A., Roberts, J.A., Vincent, J.L., Watkins, R.R., Lowman, W., Spellberg, B., Abbott, I.J., Adesunkanmi, A.K., Al-Dahir, S., Al-Hasan, M.N., Agresta, F., Althani, A.A., Ansari, S., Ansumana, R., Augustin, G., Bala, M., Balogh, Z.J., Baraket, O., Bhangu, A., Beltran, M.A., Bernhard, M., Biffl, W.L., Boermeester, M.A., Brecher, S.M., Cherry-Bukowiec, J.R., Buyne, O.R., Cainzos, M.A., Cairns, K.A., Camacho-Ortiz, A., Chandy, S.J., Jusoh, A. Che, Chichom-Mefire, A., Colijn, C., Corcione, F., Cui, Y., Curcio, D., Delibegovic, S., Demetrashvili, Z., Simone, B. De, Dhingra, S., Diaz, J.J., Carlo, I. Di, Dillip, A., Saverio, S. Di, Doyle, M.P., Dorj, G., Dogjani, A., Dupont, H., Eachempati, S.R., Enani, M.A., Egiev, V.N., Elmangory, M.M., Ferrada, P., Fitchett, J.R., Fraga, G.P., Guessennd, N., Giamarellou, H., Ghnnam, W., Gkiokas, G., Goldberg, S.R., Gomes, C.A., Gomi, H., Guzman-Blanco, M., Haque, M., Hansen, S., Hecker, A., Heizmann, W.R., Herzog, T., Hodonou, A.M., Hong, S.K., Kafka-Ritsch, R., Kaplan, L.J., Kapoor, G., Karamarkovic, A., Kees, M.G., Kenig, J., Kiguba, R., and et al.
Abstract: Contains fulltext : 168575.pdf (publisher's version ) (Open Access), Intra-abdominal infections (IAI) are an important cause of morbidity and are frequently associated with poor prognosis, particularly in high-risk patients. The cornerstones in the management of complicated IAIs are timely effective source control with appropriate antimicrobial therapy. Empiric antimicrobial therapy is important in the management of intra-abdominal infections and must be broad enough to cover all likely organisms because inappropriate initial antimicrobial therapy is associated with poor patient outcomes and the development of bacterial resistance. The overuse of antimicrobials is widely accepted as a major driver of some emerging infections (such as C. difficile), the selection of resistant pathogens in individual patients, and for the continued development of antimicrobial resistance globally. The growing emergence of multi-drug resistant organisms and the limited development of new agents available to counteract them have caused an impending crisis with alarming implications, especially with regards to Gram-negative bacteria. An international task force from 79 different countries has joined this project by sharing a document on the rational use of antimicrobials for patients with IAIs. The project has been termed AGORA (Antimicrobials: A Global Alliance for Optimizing their Rational Use in Intra-Abdominal Infections). The authors hope that AGORA, involving many of the world's leading experts, can actively raise awareness in health workers and can improve prescribing behavior in treating IAIs.
Published: 2016

4. Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

Author: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, Pattaro, C., Teumer, A., Gorski, M., Chu, A.Y., Li, M., Mijatovic, V., Garnaas, M., Tin, A., Sorice, R., Li, Y., Taliun, D., Olden, M., Foster, M., Yang, Q., Chen, M.-H., Pers, T.H., Johnson, A.D., Ko, Y.-A., Fuchsberger, C., Tayo, B., Nalls, M., Feitosa, M.F., Isaacs, A., Dehghan, A., D'Adamo, P., Adeyemo, A., Dieffenbach, A.K., Zonderman, A.B., Nolte, I.M., Van Der Most, P.J., Wright, A.F., Shuldiner, A.R., Morrison, A.C., Hofman, A., Smith, A.V., Dreisbach, A.W., Franke, A., Uitterlinden, A.G., Metspalu, A., Tonjes, A., Lupo, A., Robino, A., Johansson, Å., Demirkan, A., Kollerits, B., Freedman, B.I., Ponte, B., Oostra, B.A., Paulweber, B., Krämer, B.K., Mitchell, B.D., Buckley, B.M., Peralta, C.A., Hayward, C., Helmer, C., Rotimi, C.N., Shaffer, C.M., Müller, C., Sala, C., Van Duijn, C.M., Saint-Pierre, A., Ackermann, D., Shriner, D., Ruggiero, D., Toniolo, D., Lu, Y., Cusi, D., Czamara, D., Ellinghaus, D., Siscovick, D.S., Ruderfer, D., Gieger, C., Grallert, H., Rochtchina, E., Atkinson, E.J., Holliday, E.G., Boerwinkle, E., Salvi, E., Bottinger, E.P., Murgia, F., Rivadeneira, F., Ernst, F., Kronenberg, F., Hu, F.B., Navis, G.J., Curhan, G.C., Ehret, G.B., Homuth, G., Coassin, S., Thun, G.-A., Pistis, G., Gambaro, G., Malerba, G., Montgomery, G.W., Eiriksdottir, G., Jacobs, G., Li, G., Wichmann, H.-E., Campbell, H., Schmidt, H., Wallaschofski, H., Völzke, H., Brenner, H., Kroemer, H.K., Kramer, H., Lin, H., Leach, I.M., Ford, I., Guessous, I., Rudan, I., Prokopenko, I., Borecki, I., Heid, I.M., Kolcic, I., Persico, I., Jukema, J.W., Wilson, J.F., Felix, J.F., Divers, J., Lambert, J.-C., Stafford, J.M., Gaspoz, J.-M., Smith, J.A., Faul, J.D., Wang, J.J., Ding, J., Hirschhorn, J.N., Attia, J., Whitfield, J.B., Chalmers, J., Viikari, J., Coresh, J., Denny, J.C., Karjalainen, J., Fernandes, J.K., Endlich, K., Butterbach, K., Keene, K.L., Lohman, K., Portas, L., Launer, L.J., Lyytikäinen, L.-P., Yengo, L., Franke, L., Ferrucci, L., Rose, L.M., Kedenko, L., Rao, M., Struchalin, M., Kleber, M.E., Cavalieri, M., Haun, M., Cornelis, M.C., Ciullo, M., Pirastu, M., De Andrade, M., McEvoy, M.A., Woodward, M., Adam, M., Cocca, M., Nauck, M., Imboden, M., Waldenberger, M., Pruijm, M., Metzger, M., Stumvoll, M., Evans, M.K., Sale, M.M., Kähönen, M., Boban, M., Bochud, M., Rheinberger, M., Verweij, N., Bouatia-Naji, N., Martin, N.G., Hastie, N., Probst-Hensch, N., Soranzo, N., Devuyst, O., Raitakari, O., Gottesman, O., Franco, O.H., Polasek, O., Gasparini, P., Munroe, P.B., Ridker, P.M., Mitchell, P., Muntner, P., Meisinger, C., Smit, J.H., Abecasis, G.R., Adair, L.S., Alexander, M., Altshuler, D., Amin, N., Arking, D.E., Arora, P., Aulchenko, Y., Bakker, S.J.L., Bandinelli, S., Barroso, I., Beckmann, J.S., Beilby, J.P., Bergman, R.N., Bergmann, S., Bis, J.C., Boehnke, M., Bonnycastle, L.L., Bornstein, S.R., Bots, M.L., Bragg-Gresham, J.L., Brand, S.-M., Brand, E., Braund, P.S., Brown, M.J., Burton, P.R., Casas, J.P., Caulfield, M.J., Chakravarti, A., Chambers, J.C., Chandak, G.R., Chang, Y.-P.C., Charchar, F.J., Chaturvedi, N., Cho, Y.S., Clarke, R., Collins, F.S., Collins, R., Connell, J.M., Cooper, J.A., Cooper, M.N., Cooper, R.S., Corsi, A.M., Dörr, M., Dahgam, S., Danesh, J., Smith, G.D., Day, I.N.M., Deloukas, P., Denniff, M., Dominiczak, A.F., Dong, Y., Doumatey, A., Elliott, P., Elosua, R., Erdmann, J., Eyheramendy, S., Farrall, M., Fava, C., Forrester, T., Fowkes, F.G.R., Fox, E.R., Frayling, T.M., Galan, P., Ganesh, S.K., Garcia, M., Gaunt, T.R., Glazer, N.L., Go, M.J., Goel, A., Grässler, J., Grobbee, D.E., Groop, L., Guarrera, S., Guo, X., Hadley, D., Hamsten, A., Han, B.-G., Hardy, R., Hartikainen, A.-L., Heath, S., Heckbert, S.R., Hedblad, B., Hercberg, S., Hernandez, D., Hicks, A.A., Hilton, G., Hingorani, A.D., Hoffman Bolton, J.A., Hopewell, J.C., Howard, P., Humphries, S.E., Hunt, S.C., Hveem, K., Ikram, M.A., Islam, M., Iwai, N., Jarvelin, M.-R., Jackson, A.U., Jafar, T.H., Janipalli, C.S., Johnson, T., Kathiresan, S., Khaw, K.-T., Kim, H.-L., Kinra, S., Kita, Y., Kivimaki, M., Kooner, J.S., Kumar, M.J.K., Kuh, D., Kulkarni, S.R., Kumari, M., Kuusisto, J., Kuznetsova, T., Laakso, M., Laan, M., Laitinen, J., Lakatta, E.G., Langefeld, C.D., Larson, M.G., Lathrop, M., Lawlor, D.A., Lawrence, R.W., Lee, J.-Y., Lee, N.R., Levy, D., Longstreth, W.T., Luan, J., Lucas, G., Ludwig, B., Mangino, M., Mani, K.R., Marmot, M.G., Mattace-Raso, F.U.S., Matullo, G., McArdle, W.L., McKenzie, C.A., Meitinger, T., Melander, O., Meneton, P., Meschia, J.F., Miki, T., Milaneschi, Y., Mohlke, K.L., Mooser, V., Morken, M.A., Morris, R.W., Mosley, T.H., Najjar, S., Narisu, N., Newton-Cheh, C., Nguyen, K.-D.H., Nilsson, P., Nyberg, F., O'Donnell, C.J., Ogihara, T., Ohkubo, T., Okamura, T., Ong, R.T.-H., Ongen, H., Onland-Moret, N.C., O'Reilly, P.F., Org, E., Orru, M., Palmas, W., Palmen, J., Palmer, L.J., Palmer, N.D., Parker, A.N., Peden, J.F., Peltonen, L., Perola, M., Pihur, V., Platou, C.G.P., Plump, A., Prabhakaran, D., Psaty, B.M., Raffel, L.J., Rao, D.C., Rasheed, A., Ricceri, F., Rice, K.M., Rosengren, A., Rotter, J.I., Rudock, M.E., Sõber, S., Salako, T., Saleheen, D., Salomaa, V., Samani, N.J., Schwartz, S.M., Schwarz, P.E.H., Scott, L.J., Scott, J., Scuteri, A., Sehmi, J.S., Seielstad, M., Seshadri, S., Sharma, P., Shaw-Hawkins, S., Shi, G., Shrine, N.R.G., Sijbrands, E.J.G., Sim, X., Singleton, A., Sjögren, M., Smith, N.L., Artigas, M.S., Spector, T.D., Staessen, J.A., Stancakova, A., Steinle, N.I., Strachan, D.P., Stringham, H.M., Sun, Y.V., Swift, A.J., Tabara, Y., Tai, E.-S., Talmud, P.J., Taylor, A., Terzic, J., Thelle, D.S., Tobin, M.D., Tomaszewski, M., Tripathy, V., Tuomilehto, J., Tzoulaki, I., Uda, M., Ueshima, H., Uiterwaal, C.S.P.M., Umemura, S., Van Der Harst, P., Van Der Schouw, Y.T., Van Gilst, W.H., Vartiainen, E., Vasan, R.S., Veldre, G., Verwoert, G.C., Viigimaa, M., Vinay, D.G., Vineis, P., Voight, B.F., Vollenweider, P., Wagenknecht, L.E., Wain, L.V., Wang, X., Wang, T.J., Wareham, N.J., Watkins, H., Weder, A.B., Whincup, P.H., Wiggins, K.L., Witteman, J.C.M., Wong, A., Wu, Y., Yajnik, C.S., Yao, J., Young, J.H., Zelenika, D., Zhai, G., Zhang, W., Zhang, F., Zhao, J.H., Zhu, H., Zhu, X., Zitting, P., Zukowska-Szczechowska, E., Okada, Y., Wu, J.-Y., Gu, D., Takeuchi, F., Takahashi, A., Maeda, S., Tsunoda, T., Chen, P., Lim, S.-C., Wong, T.-Y., Liu, J., Young, T.L., Aung, T., Teo, Y.-Y., Kim, Y.J., Kang, D., Chen, C.-H., Tsai, F.-J., Chang, L.-C., Fann, S.-J.C., Mei, H., Hixson, J.E., Chen, S., Katsuya, T., Isono, M., Albrecht, E., Yamamoto, K., Kubo, M., Nakamura, Y., Kamatani, N., Kato, N., He, J., Chen, Y.-T., Tanaka, T., Reilly, M.P., Schunkert, H., Assimes, T.L., Hall, A., Hengstenberg, C., König, I.R., Laaksonen, R., McPherson, R., Thompson, J.R., Thorsteinsdottir, U., Ziegler, A., Absher, D., Chen, L., Cupples, L.A., Halperin, E., 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Guiducci, C., Burtt, N., Gabriel, S.B., Dandona, S., Jarinova, O., Qu, L., Wilensky, R., Matthai, W., Hakonarson, H.H., Devaney, J., Burnett, M.S., Pichard, A.D., Kent, K.M., Satler, L., Lindsay, J.M., Waksman, R., Knouff, C.W., Waterworth, D.M., Walker, M.C., Epstein, S.E., Rader, D.J., Nelson, C.P., Wright, B.J., Balmforth, A.J., Ball, S.G., Loehr, L.R., Rosamond, W.D., Benjamin, E., Haritunians, T., Couper, D., Murabito, J., Wang, Y.A., Stricker, B.H., Chang, P.P., Willerson, J.T., Felix, S.B., Watzinger, N., Aragam, J., Zweiker, R., Lind, L., Rodeheffer, R.J., Greiser, K.H., Deckers, J.W., Stritzke, J., Ingelsson, E., Kullo, I., Haerting, J., Reffelmann, T., Redfield, M.M., Werdan, K., Mitchell, G.F., Arnett, D.K., Gottdiener, J.S., Blettner, M., Friedrich, N., Kovacs, P., Wild, P.S., Froguel, P., Rettig, R., Mägi, R., Biffar, R., Schmidt, R., Middelberg, R.P.S., Carroll, R.J., Penninx, B.W., Scott, R.J., Katz, R., Sedaghat, S., Wild, S.H., Kardia, S.L.R., Ulivi, S., Hwang, S.-J., 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Longstreth, W.T., Luan, J., Lucas, G., Ludwig, B., Mangino, M., Mani, K.R., Marmot, M.G., Mattace-Raso, F.U.S., Matullo, G., McArdle, W.L., McKenzie, C.A., Meitinger, T., Melander, O., Meneton, P., Meschia, J.F., Miki, T., Milaneschi, Y., Mohlke, K.L., Mooser, V., Morken, M.A., Morris, R.W., Mosley, T.H., Najjar, S., Narisu, N., Newton-Cheh, C., Nguyen, K.-D.H., Nilsson, P., Nyberg, F., O'Donnell, C.J., Ogihara, T., Ohkubo, T., Okamura, T., Ong, R.T.-H., Ongen, H., Onland-Moret, N.C., O'Reilly, P.F., Org, E., Orru, M., Palmas, W., Palmen, J., Palmer, L.J., Palmer, N.D., Parker, A.N., Peden, J.F., Peltonen, L., Perola, M., Pihur, V., Platou, C.G.P., Plump, A., Prabhakaran, D., Psaty, B.M., Raffel, L.J., Rao, D.C., Rasheed, A., Ricceri, F., Rice, K.M., Rosengren, A., Rotter, J.I., Rudock, M.E., Sõber, S., Salako, T., Saleheen, D., Salomaa, V., Samani, N.J., Schwartz, S.M., Schwarz, P.E.H., Scott, L.J., Scott, J., Scuteri, A., Sehmi, J.S., Seielstad, M., Seshadri, S., Sharma, P., Shaw-Hawkins, S., Shi, G., Shrine, N.R.G., Sijbrands, E.J.G., Sim, X., Singleton, A., Sjögren, M., Smith, N.L., Artigas, M.S., Spector, T.D., Staessen, J.A., Stancakova, A., Steinle, N.I., Strachan, D.P., Stringham, H.M., Sun, Y.V., Swift, A.J., Tabara, Y., Tai, E.-S., Talmud, P.J., Taylor, A., Terzic, J., Thelle, D.S., Tobin, M.D., Tomaszewski, M., Tripathy, V., Tuomilehto, J., Tzoulaki, I., Uda, M., Ueshima, H., Uiterwaal, C.S.P.M., Umemura, S., Van Der Harst, P., Van Der Schouw, Y.T., Van Gilst, W.H., Vartiainen, E., Vasan, R.S., Veldre, G., Verwoert, G.C., Viigimaa, M., Vinay, D.G., Vineis, P., Voight, B.F., Vollenweider, P., Wagenknecht, L.E., Wain, L.V., Wang, X., Wang, T.J., Wareham, N.J., Watkins, H., Weder, A.B., Whincup, P.H., Wiggins, K.L., Witteman, J.C.M., Wong, A., Wu, Y., Yajnik, C.S., Yao, J., Young, J.H., Zelenika, D., Zhai, G., Zhang, W., Zhang, F., Zhao, J.H., Zhu, H., Zhu, X., Zitting, P., Zukowska-Szczechowska, E., Okada, Y., Wu, J.-Y., Gu, D., Takeuchi, F., Takahashi, A., Maeda, S., Tsunoda, T., Chen, P., Lim, S.-C., Wong, T.-Y., Liu, J., Young, T.L., Aung, T., Teo, Y.-Y., Kim, Y.J., Kang, D., Chen, C.-H., Tsai, F.-J., Chang, L.-C., Fann, S.-J.C., Mei, H., Hixson, J.E., Chen, S., Katsuya, T., Isono, M., Albrecht, E., Yamamoto, K., Kubo, M., Nakamura, Y., Kamatani, N., Kato, N., He, J., Chen, Y.-T., Tanaka, T., Reilly, M.P., Schunkert, H., Assimes, T.L., Hall, A., Hengstenberg, C., König, I.R., Laaksonen, R., McPherson, R., Thompson, J.R., Thorsteinsdottir, U., Ziegler, A., Absher, D., Chen, L., Cupples, L.A., Halperin, E., Musunuru, K., Preuss, M., Schillert, A., Thorleifsson, G., Wells, G.A., Holm, H., Roberts, R., Stewart, A.F.R., Fortmann, S., Go, A., Hlatky, M., Iribarren, C., Knowles, J., Myers, R., Quertermous, T., Sidney, S., Risch, N., Tang, H., Blankenberg, S., Schnabel, R., Sinning, C., Lackner, K.J., Tiret, L., Nicaud, V., Cambien, F., Bickel, C., Rupprecht, H.J., Perret, C., Proust, C., Münzel, T.F., Barbalic, M., Chen, 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Parsa, A., O'Connell, J.R., Susztak, K., Hamet, P., Tremblay, J., De Boer, I.H., Böger, C.A., Goessling, W., Chasman, D.I., Köttgen, A., Kao, W.H.L., and Fox, C.S.
Abstract: Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways. © 2016, Nature Publishing Group. All rights reserved.
Published: 2016

5. Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

Author: Cazier, J.B., Rao, S.R., McLean, C.M., Walker, A.K., Wright, B.J., Jaeger, E.E.M., Kartsonaki, C., Marsden, L., Yau, C., Camps, C., Kaisaki, P., Consortium, O., Taylor, J., Catto, J.W., Tomlinson, I.P.M., Kiltie, A.E., and Hamdy, F.C.
Abstract: Bladder cancers are a leading cause of death from malignancy. Molecular markers might predict disease progression and behaviour more accurately than the available prognostic factors. Here we use whole-genome sequencing to identify somatic mutations and chromosomal changes in 14 bladder cancers of different grades and stages. As well as detecting the known bladder cancer driver mutations, we report the identification of recurrent protein-inactivating mutations in CDKN1A and FAT1. The former are not mutually exclusive with TP53 mutations or MDM2 amplification, showing that CDKN1A dysfunction is not simply an alternative mechanism for p53 pathway inactivation. We find strong positive associations between higher tumour stage/grade and greater clonal diversity, the number of somatic mutations and the burden of copy number changes. In principle, the identification of sub-clones with greater diversity and/or mutation burden within early-stage or low-grade tumours could identify lesions with a high risk of invasive progression.
Published: 2014

6. The Oregon experiment--effects of Medicaid on clinical outcomes

Author: Baicker, K., Taubman, S.L., Allen, H.L., Bernstein, M., Gruber, J.H., Newhouse, J.P., Schneider, E.C., Wright, B.J., Zaslavsky, A.M., Finkelstein, A.N., Carlson, M., Edlund, T., Gallia, C., Smith, J., Massachusetts Institute of Technology. Department of Economics, Gruber, Jonathan, and Finkelstein, Amy
Subjects: Gerontology, Adult, Health Status, Hypercholesterolemia, Insurance Coverage, law.invention, chemistry.chemical_compound, Oregon, Young Adult, Randomized controlled trial, law, Health care, Diabetes Mellitus, Prevalence, Medicine, Humans, Depression (differential diagnoses), Glycated Hemoglobin, Depressive Disorder, business.industry, Random assignment, Medicaid, General Medicine, Health Care Costs, Health Services, Middle Aged, Confidence interval, United States, chemistry, Hypertension, Glycated hemoglobin, Health care reform, Quality of hospital and integrated care [NCEBP 4], business, Demography
Abstract: Background: Despite the imminent expansion of Medicaid coverage for low-income adults, the effects of expanding coverage are unclear. The 2008 Medicaid expansion in Oregon based on lottery drawings from a waiting list provided an opportunity to evaluate these effects. Methods: Approximately 2 years after the lottery, we obtained data from 6387 adults who were randomly selected to be able to apply for Medicaid coverage and 5842 adults who were not selected. Measures included blood-pressure, cholesterol, and glycated hemoglobin levels; screening for depression; medication inventories; and self-reported diagnoses, health status, health care utilization, and out-of-pocket spending for such services. We used the random assignment in the lottery to calculate the effect of Medicaid coverage. Results: We found no significant effect of Medicaid coverage on the prevalence or diagnosis of hypertension or high cholesterol levels or on the use of medication for these conditions. Medicaid coverage significantly increased the probability of a diagnosis of diabetes and the use of diabetes medication, but we observed no significant effect on average glycated hemoglobin levels or on the percentage of participants with levels of 6.5% or higher. Medicaid coverage decreased the probability of a positive screening for depression (−9.15 percentage points; 95% confidence interval, −16.70 to −1.60; P=0.02), increased the use of many preventive services, and nearly eliminated catastrophic out-of-pocket medical expenditures. Conclusions: This randomized, controlled study showed that Medicaid coverage generated no significant improvements in measured physical health outcomes in the first 2 years, but it did increase use of health care services, raise rates of diabetes detection and management, lower rates of depression, and reduce financial strain., United States. Dept. of Health and Human Services. Office of the Assistant Secretary for Planning and Evaluation, California HealthCare Foundation, National Institute on Aging (P30AG012810), National Institute on Aging (RC2AGO36631), National Institute on Aging (R01AG0345151), John D. and Catherine T. MacArthur Foundation, Robert Wood Johnson Foundation, Alfred P. Sloan Foundation, Smith Richardson Foundation, United States. Social Security Administration (5 RRC 08098400-03-00, to the National Bureau of Economic Research as part of the Retirement Research Consortium of the Social Security Administration), Centers for Medicare & Medicaid Services (U.S.)
Published: 2013

7. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

Author: Schunkert, H. König, I.R. Kathiresan, S. Reilly, M.P. Assimes, T.L. Holm, H. Preuss, M. Stewart, A.F.R. Barbalic, M. Gieger, C. Absher, D. Aherrahrou, Z. Allayee, H. Altshuler, D. Anand, S.S. Andersen, K. Anderson, J.L. Ardissino, D. Ball, S.G. Balmforth, A.J. Barnes, T.A. Becker, D.M. Becker, L.C. Berger, K. Bis, J.C. Boekholdt, S.M. Boerwinkle, E. Braund, P.S. Brown, M.J. Burnett, M.S. Buysschaert, I. Carlquist, J.F. Chen, L. Cichon, S. Codd, V. Davies, R.W. Dedoussis, G. Dehghan, A. Demissie, S. Devaney, J.M. Diemert, P. Do, R. Doering, A. Eifert, S. Mokhtari, N.E.E. Ellis, S.G. Elosua, R. Engert, J.C. Epstein, S.E. De Faire, U. Fischer, M. Folsom, A.R. Freyer, J. Gigante, B. Girelli, D. Gretarsdottir, S. Gudnason, V. Gulcher, J.R. Halperin, E. Hammond, N. Hazen, S.L. Hofman, A. Horne, B.D. Illig, T. Iribarren, C. Jones, G.T. Jukema, J.W. Kaiser, M.A. Kaplan, L.M. Kastelein, J.J.P. Khaw, K.-T. Knowles, J.W. Kolovou, G. Kong, A. Laaksonen, R. Lambrechts, D. Leander, K. Lettre, G. Li, M. Lieb, W. Loley, C. Lotery, A.J. Mannucci, P.M. Maouche, S. Martinelli, N. McKeown, P.P. Meisinger, C. Meitinger, T. Melander, O. Merlini, P.A. Mooser, V. Morgan, T. Mühleisen, T.W. Muhlestein, J.B. Münzel, T. Musunuru, K. Nahrstaedt, J. Nelson, C.P. Nöthen, M.M. Olivieri, O. Patel, R.S. Patterson, C.C. Peters, A. Peyvandi, F. Qu, L. Quyyumi, A.A. Rader, D.J. Rallidis, L.S. Rice, C. Rosendaal, F.R. Rubin, D. Salomaa, V. Sampietro, M.L. Sandhu, M.S. Schadt, E. Scḧsignfer, A. Schillert, A. Schreiber, S. Schrezenmeir, J. Schwartz, S.M. Siscovick, D.S. Sivananthan, M. Sivapalaratnam, S. Smith, A. Smith, T.B. Snoep, J.D. Soranzo, N. Spertus, J.A. Stark, K. Stirrups, K. Stoll, M. Tang, W.H.W. Tennstedt, S. Thorgeirsson, G. Thorleifsson, G. Tomaszewski, M. Uitterlinden, A.G. Van Rij, A.M. Voight, B.F. Wareham, N.J. Wells, G.A. Wichmann, H.-E. Wild, P.S. Willenborg, C. Witteman, J.C.M. Wright, B.J. Ye, S. Zeller, T. Ziegler, A. Cambien, F. Goodall, A.H. Cupples, L.A. Quertermous, T. Mäsignrz, W. Hengstenberg, C. Blankenberg, S. Ouwehand, W.H. Hall, A.S. Deloukas, P. Thompson, J.R. Stefansson, K. Roberts, R. Thorsteinsdottir, U. O'Donnell, C.J. McPherson, R. Erdmann, J. Samani, N.J.
Subjects: cardiovascular diseases
Abstract: We performed a meta-analysis of 14 genome-wide association studies of coronary artery disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of European descent followed by genotyping of top association signals in 56,682 additional individuals. This analysis identified 13 loci newly associated with CAD at P < 5 - 10'8 and confirmed the association of 10 of 12 previously reported CAD loci. The 13 new loci showed risk allele frequencies ranging from 0.13 to 0.91 and were associated with a 6% to 17% increase in the risk of CAD per allele. Notably, only three of the new loci showed significant association with traditional CAD risk factors and the majority lie in gene regions not previously implicated in the pathogenesis of CAD. Finally, five of the new CAD risk loci appear to have pleiotropic effects, showing strong association with various other human diseases or traits. © 2011 Nature America, Inc. All rights reserved.
Published: 2011

8. Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes

Author: Strawbridge, R.J. Dupuis, J. Prokopenko, I. Barker, A. Ahlqvist, E. Rybin, D. Petrie, J.R. Travers, M.E. Bouatia-Naji, N. Dimas, A.S. Nica, A.C. Wheeler, E. Chen, H. Voight, B.F. Taneera, J. Kanoni, S. Peden, J.F. Turrini, F. Gustafsson, S. Zabena, C. Almgren, P. Barker, D.J.P. Barnes, D. Dennison, E.M. Eriksson, J.G. Eriksson, P. Eury, E. Folkersen, L. Fox, C.S. Frayling, T.M. Goel, A. Gu, H.F. Horikoshi, M. Isomaa, B. Jackson, A.U. Jameson, K.A. Kajantie, E. Kerr-Conte, J. Kuulasmaa, T. Kuusisto, J. Loos, R.J.F. Luan, J. Makrilakis, K. Manning, A.K. Martínez-Larrad, M.T. Narisu, N. Mannila, M.N. Öhrvik, J. Osmond, C. Pascoe, L. Payne, F. Sayer, A.A. Sennblad, B. Silveira, A. Stančcáková, A. Stirrups, K. Swift, A.J. Syvänen, A.-C. Tuomi, T. Van't Hooft, F.M. Walker, M. Weedon, M.N. Xie, W. Zethelius, B. Scott, L.J. Steinthorsdottir, V. Morris, A.P. Dina, C. Welch, R.P. Zeggini, E. Huth, C. Aulchenko, Y.S. Thorleifsson, G. Mcculloch, L.J. Ferreira, T. Grallert, H. Amin, N. Wu, G. Willer, C.J. Raychaudhuri, S. McCarroll, S.A. Hofmann, O.M. Qi, L. Segre, A.V. Van Hoek, M. Navarro, P. Ardlie, K. Balkau, B. Benediktsson, R. Bennett, A.J. Blagieva, R. Boerwinkle, E. Bonnycastle, L.L. Bostrom, K.B. Bravenboer, B. Bumpstead, S. Burtt, N.P. Charpentier, G. Chines, P.S. Cornelis, M. Couper, D.J. Crawford, G. Doney, A.S.F. Elliott, K.S. Elliott, A.L. Erdos, M.R. Franklin, C.S. Ganser, M. Gieger, C. Grarup, N. Green, T. Griffin, S. Groves, C.J. Guiducci, C. Hadjadj, S. Hassanali, N. Herder, C. Johnson, P.R.V. Jorgensen, T. Kao, W.H.L. Klopp, N. Kong, A. Kraft, P. Lauritzen, T. Li, M. Lieverse, A. Lindgren, C.M. Lyssenko, V. Marre, M. Meitinger, T. Midthjell, K. Morken, M.A. Nilsson, P. Owen, K.R. Perry, J.R.B. Petersen, A.-K. Platou, C. Proenca, C. Rathmann, W. Rayner, N.W. Robertson, N.R. Rocheleau, G. Roden, M. Sampson, M.J. Saxena, R. Shields, B.M. Shrader, P. Sigurdsson, G. Sparso, T. Strassburger, K. Stringham, H.M. Sun, Q. Thorand, B. Tichet, J. Van Dam, R.M. Van Haeften, T.W. Van Herpt, T. Van Vliet-Ostaptchouk, J.V. Walters, G.B. Wijmenga, C. Witteman, J.C.M. Bergman, R.N. Cauchi, S. Collins, F.S. Gloyn, A.L. Gyllensten, U. Hansen, T. Hide, W.A. Hitman, G.A. Hofman, A. Hunter, D.J. Hveem, K. Laakso, M. Mohlke, K.L. Morris, A.D. Palmer, C.N.A. Pramstaller, P.P. Rudan, I. Sijbrands, E. Stein, L.D. Tuomilehto, J. Uitterlinden, A.G. Wareham, N.J. Watanabe, R.M. Abecasis, G.R. Boehm, B.O. Campbell, H. Daly, M.J. Hattersley, A.T. Hu, F.B. Meigs, J.B. Pankow, J.S. Pedersen, O. Wichmann, H.-E. Barroso, I. Groop, L. Sladek, R. Thorsteinsdottir, U. Wilson, J.F. Illig, T. Froguel, P. Van Duijn, C.M. Stefansson, K. Altshuler, D. Boehnke, M. McCarthy, M.I. Speliotes, E.K. Berndt, S.I. Monda, K.L. Allen, H.L. Magi, R. Randall, J.C. Vedantam, S. Winkler, T.W. Workalemahu, T. Heid, I.M. Wood, A.R. Weyant, R.J. Estrada, K. Liang, L. Nemesh, J. Park, J.-H. Kilpelainen, T.O. Yang, J. Esko, T. Feitosa, M.F. Kutalik, Z. Mangino, M. Scherag, A. Smith, A.V. Zhao, J.H. Aben, K.K. Absher, D.M. Dixon, A.L. Fisher, E. Glazer, N.L. Goddard, M.E. Heard-Costa, N.L. Hoesel, V. Hottenga, J.-J. Johansson, A. Johnson, T. Ketkar, S. Lamina, C. Li, S. Moffatt, M.F. Myers, R.H. Peters, M.J. Preuss, M. Ripatti, S. Rivadeneira, F. Sandholt, C. Timpson, N.J. Tyrer, J.P. Van Wingerden, S. White, C.C. Wiklund, F. Barlassina, C. Chasman, D.I. Cooper, M.N. Jansson, J.-O. Lawrence, R.W. Pellikka, N. Shi, J. Thiering, E. Alavere, H. Alibrandi, M.T.S. Arnold, A.M. Aspelund, T. Atwood, L.D. Balmforth, A.J. Ben-Shlomo, Y. Bergmann, S. Biebermann, H. Blakemore, A.I.F. Boes, T. Bornstein, S.R. Brown, M.J. Buchanan, T.A. Busonero, F. Cappuccio, F.P. Cavalcanti-Proenca, C. Chen, Y.-D.I. Chen, C.-M. Clarke, R. Coin, L. Connell, J. Day, I.N.M. Den Heijer, M. Duan, J. Ebrahim, S. Elliott, P. Elosua, R. Eiriksdottir, G. Facheris, M.F. Felix, S.B. Fischer-Posovszky, P. Folsom, A.R. Friedrich, N. Freimer, N.B. Fu, M. Gaget, S. Gejman, P.V. Geus, E.J.C. Gjesing, A.P. Goyette, P. Grasler, J. Greenawalt, D.M. Gudnason, V. Hartikainen, A.-L. Hall, A.S. Havulinna, A.S. Hayward, C. Heath, A.C. Hengstenberg, C. Hicks, A.A. Hinney, A. Homuth, G. Hui, J. Igl, W. Iribarren, C. Jacobs, K.B. Jarick, I. Jewell, E. John, U. Jousilahti, P. Jula, A. Kaakinen, M. Kaplan, L.M. Kathiresan, S. Kettunen, J. Kinnunen, L. Knowles, J.W. Kolcic, I. König, I.R. Koskinen, S. Kovacs, P. Kvaloy, K. Laitinen, J. Lantieri, O. Lanzani, C. Launer, L.J. Lecoeur, C. Lehtimaki, T. Lettre, G. Liu, J. Lokki, M.-L. Lorentzon, M. Luben, R.N. Ludwig, B. Manunta, P. Marek, D. Martin, N.G. McArdle, W.L. McCarthy, A. McKnight, B. Melander, O. Meyre, D. Montgomery, G.W. Mulic, R. Ngwa, J.S. Nelis, M. Neville, M.J. Nyholt, D.R. O'Donnell, C.J. O'Rahilly, S. Ong, K.K. Oostra, B. Pare, G. Parker, A.N. Perola, M. Pichler, I. Pietilainen, K.H. Platou, C.G.P. Polasek, O. Pouta, A. Rafelt, S. Raitakari, O. Rayner, N.W. Ridderstrale, M. Rief, W. Ruokonen, A. Rzehak, P. Salomaa, V. Sanders, A.R. Sandhu, M.S. Sanna, S. Saramies, J. Savolainen, M.J. Scherag, S. Schipf, S. Schreiber, S. Schunkert, H. Silander, K. Sinisalo, J. Siscovick, D.S. Smit, J.H. Soranzo, N. Sovio, U. Stephens, J. Surakka, I. Tammesoo, M.-L. Tardif, J.-C. Teder-Laving, M. Teslovich, T.M. Thompson, J.R. Thomson, B. Tonjes, A. Van Meurs, J.B.J. Van Ommen, G.-J. Vatin, V. Viikari, J. Visvikis-Siest, S. Vitart, V. Vogel, C.I.G. Waite, L.L. Wallaschofski, H. Widen, E. Wiegand, S. Wild, S.H. Willemsen, G. Witte, D.R. Xu, J. Zhang, Q. Zgaga, L. Ziegler, A. Zitting, P. Beilby, J.P. Farooqi, I.S. Hebebrand, J. Huikuri, H.V. James, A.L. Kahonen, M. Levinson, D.F. Macciardi, F. Nieminen, M.S. Ohlsson, C. Palmer, L.J. Ridker, P.M. Stumvoll, M. Beckmann, J.S. Boeing, H. Boomsma, D.I. Caulfield, M.J. Chanock, S.J. Cupples, L.A. Smith, G.D. Erdmann, J. Gronberg, H. Hall, P. Harris, T.B. Hayes, R.B. Heinrich, J. Jarvelin, M.-R. Kaprio, J. Karpe, F. Khaw, K.-T. Kiemeney, L.A. Krude, H. Lawlor, D.A. Metspalu, A. Munroe, P.B. Ouwehand, W.H. Penninx, B.W. Peters, A. Quertermous, T. Reinehr, T. Rissanen, A. Samani, N.J. Schwarz, P.E.H. Shuldiner, A.R. Spector, T.D. Uda, M. Valle, T.T. Wabitsch, M. Waeber, G. Watkins, H. Wright, A.F. Zillikens, M.C. Chatterjee, N. Purcell, S. Schadt, E.E. Visscher, P.M. Assimes, T.L. Borecki, I.B. Deloukas, P. Haritunians, T. Kaplan, R.C. O'Connell, J.R. Peltonen, L. Schlessinger, D. Strachan, D.P. North, K.E. Hirschhorn, J.N. Ingelsson, E. Parts, L. Glass, D. Nisbet, J. Barrett, A. Sekowska, M. Potter, S. Grundberg, E. Small, K. Hedman, A.K. Bataille, V. Bell, J.T. Surdulescu, G. Ingle, C. Nestle, F.O. Di Meglio, P. Min, J.L. Wilk, A. Hammond, C.J. Yang, T.-P. Montgomery, S.B. Zondervan, K.T. Durbin, R. Ahmadi, K. Dermitzakis, E.T. Reilly, M.P. Holm, H. Stewart, A.F.R. Barbalic, M. Aherrahrou, Z. Allayee, H. Anand, S.S. Andersen, K. Anderson, J.L. Ardissino, D. Ball, S.G. Barnes, T.A. Becker, D.M. Becker, L.C. Berger, K. Bis, J.C. Boekholdt, S.M. Braund, P.S. Burnett, M.S. Buysschaert, I. Carlquist, J.F. Chen, L. Codd, V. Davies, R.W. Cichon, S. Dedoussis, G.V. Demissie, S. Dehghan, A. Devaney, J.M. Diemert, P. Do, R. Doering, A. Eifert, S. El Mokhtari, N.E. Ellis, S.G. Engert, J.C. Epstein, S.E. De Faire, U. Fischer, M. Freyer, J. Gigante, B. Girelli, D. Gretarsdottir, S. Gulcher, J.R. Halperin, E. Hammond, N. Hazen, S.L. Horne, B.D. Jones, G.T. Jukema, J.W. Kaiser, M.A. Kastelein, J.J.P. Kolovou, G. Laaksonen, R. Lambrechts, D. Leander, K. Li, M. Lieb, W. Loley, C. Lotery, A.J. Mannucci, P.M. Maouche, S. Martinelli, N. McKeown, P.P. Meisinger, C. Merlini, P.A. Mooser, V. Morgan, T. Mühleisen, T.W. Muhlestein, J.B. Münzel, T. Musunuru, K. Nahrstaedt, J. Nelson, C.P. Nöthen, M.M. Olivieri, O. Patel, R.S. Patterson, C.C. Peyvandi, F. Qu, L. Quyyumi, A.A. Rader, D.J. Rallidis, L.S. Rice, C. Rosendaal, F.R. Rubin, D. Sampietro, M.L. Sandhu, M.S. Schadt, E. Schäfer, A. Schillert, A. Schrezenmeir, J. Schwartz, S.M. Sivananthan, M. Sivapalaratnam, S. Smith, T.B. Snoep, J.D. Spertus, J.A. Stark, K. Stoll, M. Wilson Tang, W.H. Tennstedt, S. Thorgeirsson, G. Tomaszewski, M. Van Rij, A.M. Wells, G.A. Wild, P.S. Willenborg, C. Wright, B.J. Ye, S. Zeller, T. Cambien, F. Goodall, A.H. Marz, W. Blankenberg, S. Roberts, R. McPherson, R. Hopewell, J.C. Parish, S. Offer, A. Bowman, L. Sleight, P. Armitage, J. Peto, R. Collins, R. Chambers, J.C. Ahmed, N. Donnelly, P. Kooner, A.S. Scott, J. Sehmi, J. Zhang, W. Kooner, J. Sabater-Lleal, M. Mälarstig, A. Hellénius, M.-L. Olsson, G. Rust, S. Assmann, G. Seedorf, U. Barlera, S. Tognoni, G. Franzosi, M.G. Linksted, P. Ongen, H. Kyriakou, T. Green, F. Farrall, M. Saleheen, D. Rasheed, A. Zaidi, M. Shah, N. Samuel, M. Mallick, N. Azhar, M. Zaman, K. Samad, A. Ishaq, M. Gardezi, A. Memon, F.-U.-R. Frossard, P. Danesh, J. Östenson, C.-G. Lind, L. Cooper, C.C. Serrano-Ríos, M. Ferrannini, E. Forsen, T.J. Pattou, F. Langenberg, C. Hamsten, A. Florez, J.C.
Subjects: endocrine system, endocrine system diseases, nutritional and metabolic diseases
Abstract: OBJECTIVE - Proinsulin is a precursor of mature insulin and C-peptide. Higher circulating proinsulin levels are associated with impaired b-cell function, raised glucose levels, insulin resistance, and type 2 diabetes (T2D). Studies of the insulin processing pathway could provide new insights about T2D pathophysiology. RESEARCH DESIGN AND METHODS - We have conducted a meta-analysis of genome-wide association tests of ;2.5 million genotyped or imputed single nucleotide polymorphisms (SNPs) and fasting proinsulin levels in 10,701 nondiabetic adults of European ancestry, with follow-up of 23 loci in up to 16,378 individuals, using additive genetic models adjusted for age, sex, fasting insulin, and study-specific covariates. RESULTS - Nine SNPs at eight loci were associated with proinsulin levels (P < 5 × 10-8). Two loci (LARP6 and SGSM2) have not been previously related to metabolic traits, one (MADD) has been associated with fasting glucose, one (PCSK1) has been implicated in obesity, and four (TCF7L2, SLC30A8, VPS13C/ C2CD4A/B, and ARAP1, formerly CENTD2) increase T2D risk. The proinsulin-raising allele of ARAP1 was associated with a lower fasting glucose (P = 1.7 3 10-4), improved b-cell function (P = 1.1 × 10-5), and lower risk of T2D (odds ratio 0.88; P = 7.8 × 10-6). Notably, PCSK1 encodes the protein prohormone convertase 1/3, the first enzyme in the insulin processing pathway. A genotype score composed of the nine proinsulin-raising alleles was not associated with coronary disease in two large case-control datasets. CONCLUSIONS - We have identified nine genetic variants associated with fasting proinsulin. Our findings illuminate the biology underlying glucose homeostasis and T2D development in humans and argue against a direct role of proinsulin in coronary artery disease pathogenesis. © 2011 by the American Diabetes Association.
Published: 2011

9. A variant in LDLR is associated with abdominal aortic aneurysm

Author: Bradley, D.T., Hughes, A.E., Badger, S.A., Jones, G.T., Harrison, S.C., Wright, B.J., Bumpstead, S., Baas, A.F., Gretarsdottir, S., Burnand, K., Child, A.H., Clough, R.E., Cockerill, G., Hafez, H., Scott, D.J., Ariens, R.A., Johnson, A., Sohrabi, S., Smith, A., Thompson, M.M., Bockxmeer, F.M. van, Waltham, M., Matthiasson, S.E., Thorleifsson, G., Thorsteinsdottir, U., Blankensteijn, J.D., Teijink, J.A., Wijmenga, C., Graaf, J. de, Kiemeney, L.A.L.M., Wild, J.B., Edkins, S., Gwilliam, R., Hunt, S.E., Potter, S., Lindholt, J.S., Golledge, J., Norman, P.E., Rij, A. van, Powell, J.T., Eriksson, P., Stefansson, K., Thompson, J.R., Humphries, S.E., Sayers, R.D., Deloukas, P., Samani, N.J., Bown, M.J., Bradley, D.T., Hughes, A.E., Badger, S.A., Jones, G.T., Harrison, S.C., Wright, B.J., Bumpstead, S., Baas, A.F., Gretarsdottir, S., Burnand, K., Child, A.H., Clough, R.E., Cockerill, G., Hafez, H., Scott, D.J., Ariens, R.A., Johnson, A., Sohrabi, S., Smith, A., Thompson, M.M., Bockxmeer, F.M. van, Waltham, M., Matthiasson, S.E., Thorleifsson, G., Thorsteinsdottir, U., Blankensteijn, J.D., Teijink, J.A., Wijmenga, C., Graaf, J. de, Kiemeney, L.A.L.M., Wild, J.B., Edkins, S., Gwilliam, R., Hunt, S.E., Potter, S., Lindholt, J.S., Golledge, J., Norman, P.E., Rij, A. van, Powell, J.T., Eriksson, P., Stefansson, K., Thompson, J.R., Humphries, S.E., Sayers, R.D., Deloukas, P., Samani, N.J., and Bown, M.J.
Abstract: Item does not contain fulltext, BACKGROUND: Abdominal aortic aneurysm (AAA) is a common cardiovascular disease among older people and demonstrates significant heritability. In contrast to similar complex diseases, relatively few genetic associations with AAA have been confirmed. We reanalyzed our genome-wide study and carried through to replication suggestive discovery associations at a lower level of significance. METHODS AND RESULTS: A genome-wide association study was conducted using 1830 cases from the United Kingdom, New Zealand, and Australia with infrarenal aorta diameter>/=30 mm or ruptured AAA and 5435 unscreened controls from the 1958 Birth Cohort and National Blood Service cohort from the Wellcome Trust Case Control Consortium. Eight suggestive associations with P<1x10(-4) were carried through to in silico replication in 1292 AAA cases and 30,503 controls. One single-nucleotide polymorphism associated with P<0.05 after Bonferroni correction in the in silico study underwent further replication (706 AAA cases and 1063 controls from the United Kingdom, 507 AAA cases and 199 controls from Denmark, and 885 AAA cases and 1000 controls from New Zealand). Low-density lipoprotein receptor (LDLR) rs6511720 A was significantly associated overall and in 3 of 5 individual replication studies. The full study showed an association that reached genome-wide significance (odds ratio, 0.76; 95% confidence interval, 0.70-0.83; P=2.08x10(-10)). CONCLUSIONS: LDLR rs6511720 is associated with AAA. This finding is consistent with established effects of this variant on coronary artery disease. Shared causal pathways with other cardiovascular diseases may present novel opportunities for preventative and therapeutic strategies for AAA.
Published: 2013

10. A common biological basis of obesity and nicotine addiction

Author: Thorgeirsson, T.E. (Thorgeir), Gudbjartsson, D.F. (Daniel), Sulem, P. (Patrick), Besenbacher, S. (Søren), Styrkarsdottir, U. (Unnur), Thorleifsson, G. (Gudmar), Walters, G.B. (Bragi), Furberg, H. (Helena), Sullivan, P. (Patrick), Marchini, J. (Jonathan), McCarthy, M.I. (M.), Steinthorsdottir, V. (Valgerdur), Thorsteinsdottir, U. (Unnur), Zwart, J-A. (John-Anker), Surakka, I. (Ida), Vink, J.M. (Jacqueline), Amin, N. (Najaf), Geller, F. (Frank), Rafnar, T. (Thorunn), Esko, T. (Tõnu), Walter, S. (Stefan), Gieger, C. (Christian), Rawal, R. (Rajesh), Mangino, M. (Massimo), Prokopenko, I. (Inga), Mägi, R. (Reedik), Keskitalo, K. (Kaisu), Gudjonsdottir, I.H. (Iris), Gretarsdottir, S. (Solveig), Stefansson, H. (Hreinn), Aulchenko, Y.S. (Yurii), Nelis, M. (Mari), Aben, K.K.H. (Katja), Heijer, M. (Martin) den, Soranzo, N. (Nicole), Valdes, A.M. (Ana Maria), Steves, C.J. (Claire), Uitterlinden, A.G. (André), Hofman, A. (Albert), Tönjes, A. (Anke), Kovacs, P. (Peter), Hottenga, J.J. (Jouke Jan), Willemsen, G.A.H.M. (Gonneke), Vogelzangs, N. (Nicole), Döring, A. (Angela), Dahmen, N. (N.), Nitz, B. (Barbara), Ripatti, S. (Samuli), Perola, M. (Markus), Kettunen, J. (Johannes), Hartikainen, A.L., Pouta, A. (Anneli), Laitinen, J. (Jaana), Isohanni, M.K. (Matti), Huei-Yi, S. (Shen), Allen, M. (Maxine), Krestyaninova, M. (Maria), Hall, A. (Anne), Thompson, J.R. (John), Oskarsson, H. (Hogni), Tyrfingsson, T. (Thorarinn), Kiemeney, L.A.L.M. (Bart), Jarvelin, M.-R. (Marjo-Riitta), Salomaa, V. (Veikko), Stumvoll, M. (Michael), Spector, T.D. (Timothy), Wichmann, H.E. (Heinz Erich), Metspalu, A. (Andres), Samani, N.J. (Nilesh), Penninx, B.W.J.H. (Brenda), Oostra, B.A. (Ben), Boomsma, D.I. (Dorret), Tiemeier, H.W. (Henning), Duijn, C.M. (Cornelia) van, Kaprio, J. (Jaakko), Gulcher, J.R. (Jeffrey), Kim, Y. (Yunjung), Dackor, J. (Jennifer), Boerwinkle, E.A. (Eric), Franceschini, N. (Nora), Ardissino, D. (Diego), Bernardinelli, L. (Luisa), Mannucci, P.M. (Pier), Mauri, F. (Francesco), Merlini, P.A. (Piera), Absher, D. (Devin), Assimes, T.L. (Themistocles), Fortmann, S.P. (Stephen), Iribarren, C. (Carlos), Knowles, J.W. (Joshua), Quertermous, T. (Thomas), Ferrucci, L. (Luigi), Tanaka, T. (Toshiko), Bis, J.C. (Joshua), Haritunians, T. (Talin), McKnight, B. (Barbara), Psaty, B.M. (Bruce), Taylor, K.D. (Kent), Thacker, E.L. (Evan), Almgren, P. (Peter), Groop, L. (Leif), Ladenvall, C. (Claes), Boehnke, M. (Michael), Jackson, A.U. (Anne), Mohlke, K.L. (Karen), Stringham, H.M. (Heather), Tuomilehto, J. (Jaakko), Benjamin, E.J. (Emelia), Hwang, S.J., Levy, D. (Daniel), Preis, S.R., Vasan, R.S. (Ramachandran Srini), Duan, J. (Jubao), Gejman, P.V. (Pablo), Levinson, D.F. (Douglas), Sanders, A.R. (Alan), Shi, J. (Jianxin), Lips, E.H. (Esther), McKay, J.D. (James), Agudo, A. (Antonio), Barzan, L. (Luigi), Bencko, V. (Vladimir), Benhamou, S. (Simone), Castellsagué, X. (Xavier), Canova, C. (Cristina), Conway, D.I. (David), Fabianova, E. (Eleonora), Foretova, L. (Lenka), Janout, V. (Vladimir), Healy, C.M. (Claire), Holcátová, I. (Ivana), Kjaerheim, K. (Kristina), Lagiou, P., Lissowska, J. (Jolanta), Lowry, R. (Ray), MacFarlane, T.V. (Tatiana), Mates, D. (Dana), Richiardi, L. (Lorenzo), Rudnai, P. (Peter), Szeszenia-Dabrowska, N. (Neonilia), Zaridze, D., Znaor, A. (Ariana), Lathrop, M. (Mark), Brennan, P. (Paul), Bandinelli, S. (Stefania), Frayling, T.M. (Timothy), Guralnik, J.M. (Jack), Milaneschi, Y. (Yuri), Perry, J.R.B. (John), Altshuler, D. (David), Elosua, R. (Roberto), Kathiresan, S. (Sekar), Lucas, G. (Gavin), Melander, O. (Olle), O'Donnell, C.J. (Christopher), Schwartz, S.M. (Stephen), Voight, B.F. (Benjamin), Smith, A.V. (Davey), Geus, E.J.C. (Eco) de, Chanock, S.J. (Stephen), Gu, F. (Fangyi), Hankinson, S.E. (Susan), Hunter, D. (David), Chasman, D.I. (Daniel), Everett, B.M. (Brendan), Paré, G. (Guillaume), Ridker, P.M. (Paul), Li, M.D. (Ming), Maes, H.H. (Hermine), Audrain-Mcgovern, J. (Janet), Posthuma, D. (Danielle), Thornton, L.M. (Laura), Lerman, C. (Caryn), Rose, J.E. (Jed), Ioannidis, J.P.A. (John), Kraft, P. (Peter), Lin, D.Y. (Dan), Liu, J. (Jason), Muglia, P. (Pierandrea), Waterworth, D. (Dawn), Pillai, A.D. (Ajay), Middleton, L. (Lefkos), Berrettini, W. (Wade), Knouff, C.W. (Christopher), Yuan, X. (Xin), Waeber, G. (Gérard), Vollenweider, P. (Peter), Preisig, M. (Martin), Wareham, N.J. (Nick), Zhao, J.H. (Jing Hua), Loos, R.J.F. (Ruth), Barroso, I.E. (Inês), Khaw, K-T. (Kay-Tee), Grundy, S.M. (Scott), Barter, P. (Phil), Mahley, R. (Robert), Kesaniemi, Y.A. (Antero), McPherson, R. (Ruth), Vincent, J. (John), Strauss, J.S. (John S), Kennedy, J. (James), Farmer, A.E. (Anne E), Mcguffin, P. (Peter), Day, R.N. (Richard), Matthews, K. (Keith), Bakke, A.B. (Arnold B.), Gulsvik, A. (Amund), Lucae, S. (Susanne), Ising, M. (Marcus), Brueckl, T. (Tanja), Horstmann, S. (Sonja), Heinrich, J. (Joachim), Lamina, C. (Claudia), Polasek, O. (Ozren), Zgaga, L. (Lina), Huffman, J.E. (Jennifer), Campbell, S. (Susan), Kooner, J.S. (Jaspal), Chambers, J.C. (John), Burnett, M.S., Devaney, J. (Joseph), Pichard, A.D., Kent, K.M. (Kenneth), Satler, L.F., Lindsay, J.M. (Joseph), Waksman, R. (Ron), Epstein, S.E. (Stephen), Wilson, J.F. (James), Wild, S.H. (Sarah), Campbell, H. (Harry), Vitart, V. (Veronique), Reilly, M.P. (Muredach), Li, M. (Mingyao), Qu, L. (Liming), Wilensky, A. (Asaf), Matthai, W. (William), Hakonarson, H. (Hakon), Rader, D.J. (Daniel), Franke, A. (Andre), Wittig, M. (Michael), Schäfer, A. (Arne), Uda, M. (Manuela), Terracciano, A., Xiao, X. (Xiangjun), Busonero, F., Scheet, P. (Paul), Schlessinger, D., Clair, D.S., Rujescu, D. (Dan), Abecasis, G.R. (Gonçalo), Grabe, H.J. (Hans Jörgen), Teumer, A. (Alexander), Völzke, H. (Henry), Petersmann, A. (Astrid), John, U. (Ulrich), Rudan, I. (Igor), Hayward, C. (Caroline), Wright, A.F. (Alan), Kolcic, I. (Ivana), Wright, B.J. (Benjamin), Balmforth, A.J. (Anthony), Anderson, C. (Carl), Ahmed, T. (Tariq), Mathew, J. (Joseph), Parkes, M. (Miles), Satsangi, J. (Jack), Caulfield, M. (Mark), Munroe, P. (Patricia), Farrall, M. (Martin), Dominiczak, A. (Anna), Worthington, H. (Helen), Thomson, W. (Wendy), Eyre, D.S. (Dylan Samuel), Barton, A. (Anne), Mooser, V. (Vincent), Francks, C. (Clyde), Thorgeirsson, T.E. (Thorgeir), Gudbjartsson, D.F. (Daniel), Sulem, P. (Patrick), Besenbacher, S. (Søren), Styrkarsdottir, U. (Unnur), Thorleifsson, G. (Gudmar), Walters, G.B. (Bragi), Furberg, H. (Helena), Sullivan, P. (Patrick), Marchini, J. (Jonathan), McCarthy, M.I. (M.), Steinthorsdottir, V. (Valgerdur), Thorsteinsdottir, U. (Unnur), Zwart, J-A. (John-Anker), Surakka, I. (Ida), Vink, J.M. (Jacqueline), Amin, N. (Najaf), Geller, F. (Frank), Rafnar, T. (Thorunn), Esko, T. (Tõnu), Walter, S. (Stefan), Gieger, C. (Christian), Rawal, R. (Rajesh), Mangino, M. (Massimo), Prokopenko, I. (Inga), Mägi, R. (Reedik), Keskitalo, K. (Kaisu), Gudjonsdottir, I.H. (Iris), Gretarsdottir, S. (Solveig), Stefansson, H. (Hreinn), Aulchenko, Y.S. (Yurii), Nelis, M. (Mari), Aben, K.K.H. (Katja), Heijer, M. (Martin) den, Soranzo, N. (Nicole), Valdes, A.M. (Ana Maria), Steves, C.J. (Claire), Uitterlinden, A.G. (André), Hofman, A. (Albert), Tönjes, A. (Anke), Kovacs, P. (Peter), Hottenga, J.J. (Jouke Jan), Willemsen, G.A.H.M. (Gonneke), Vogelzangs, N. (Nicole), Döring, A. (Angela), Dahmen, N. (N.), Nitz, B. (Barbara), Ripatti, S. (Samuli), Perola, M. (Markus), Kettunen, J. (Johannes), Hartikainen, A.L., Pouta, A. (Anneli), Laitinen, J. (Jaana), Isohanni, M.K. (Matti), Huei-Yi, S. (Shen), Allen, M. (Maxine), Krestyaninova, M. (Maria), Hall, A. (Anne), Thompson, J.R. (John), Oskarsson, H. (Hogni), Tyrfingsson, T. (Thorarinn), Kiemeney, L.A.L.M. (Bart), Jarvelin, M.-R. (Marjo-Riitta), Salomaa, V. (Veikko), Stumvoll, M. (Michael), Spector, T.D. (Timothy), Wichmann, H.E. (Heinz Erich), Metspalu, A. (Andres), Samani, N.J. (Nilesh), Penninx, B.W.J.H. (Brenda), Oostra, B.A. (Ben), Boomsma, D.I. (Dorret), Tiemeier, H.W. (Henning), Duijn, C.M. (Cornelia) van, Kaprio, J. (Jaakko), Gulcher, J.R. (Jeffrey), Kim, Y. (Yunjung), Dackor, J. (Jennifer), Boerwinkle, E.A. (Eric), Franceschini, N. (Nora), Ardissino, D. (Diego), Bernardinelli, L. (Luisa), Mannucci, P.M. (Pier), Mauri, F. (Francesco), Merlini, P.A. (Piera), Absher, D. (Devin), Assimes, T.L. (Themistocles), Fortmann, S.P. (Stephen), Iribarren, C. (Carlos), Knowles, J.W. (Joshua), Quertermous, T. (Thomas), Ferrucci, L. (Luigi), Tanaka, T. (Toshiko), Bis, J.C. (Joshua), Haritunians, T. (Talin), McKnight, B. (Barbara), Psaty, B.M. (Bruce), Taylor, K.D. (Kent), Thacker, E.L. (Evan), Almgren, P. (Peter), Groop, L. (Leif), Ladenvall, C. (Claes), Boehnke, M. (Michael), Jackson, A.U. (Anne), Mohlke, K.L. (Karen), Stringham, H.M. (Heather), Tuomilehto, J. (Jaakko), Benjamin, E.J. (Emelia), Hwang, S.J., Levy, D. (Daniel), Preis, S.R., Vasan, R.S. (Ramachandran Srini), Duan, J. (Jubao), Gejman, P.V. (Pablo), Levinson, D.F. (Douglas), Sanders, A.R. (Alan), Shi, J. (Jianxin), Lips, E.H. (Esther), McKay, J.D. (James), Agudo, A. (Antonio), Barzan, L. (Luigi), Bencko, V. (Vladimir), Benhamou, S. (Simone), Castellsagué, X. (Xavier), Canova, C. (Cristina), Conway, D.I. (David), Fabianova, E. (Eleonora), Foretova, L. (Lenka), Janout, V. (Vladimir), Healy, C.M. (Claire), Holcátová, I. (Ivana), Kjaerheim, K. (Kristina), Lagiou, P., Lissowska, J. (Jolanta), Lowry, R. (Ray), MacFarlane, T.V. (Tatiana), Mates, D. (Dana), Richiardi, L. (Lorenzo), Rudnai, P. (Peter), Szeszenia-Dabrowska, N. (Neonilia), Zaridze, D., Znaor, A. (Ariana), Lathrop, M. (Mark), Brennan, P. (Paul), Bandinelli, S. (Stefania), Frayling, T.M. (Timothy), Guralnik, J.M. (Jack), Milaneschi, Y. (Yuri), Perry, J.R.B. (John), Altshuler, D. (David), Elosua, R. (Roberto), Kathiresan, S. (Sekar), Lucas, G. (Gavin), Melander, O. (Olle), O'Donnell, C.J. (Christopher), Schwartz, S.M. (Stephen), Voight, B.F. (Benjamin), Smith, A.V. (Davey), Geus, E.J.C. (Eco) de, Chanock, S.J. (Stephen), Gu, F. (Fangyi), Hankinson, S.E. (Susan), Hunter, D. (David), Chasman, D.I. (Daniel), Everett, B.M. (Brendan), Paré, G. (Guillaume), Ridker, P.M. (Paul), Li, M.D. (Ming), Maes, H.H. (Hermine), Audrain-Mcgovern, J. (Janet), Posthuma, D. (Danielle), Thornton, L.M. (Laura), Lerman, C. (Caryn), Rose, J.E. (Jed), Ioannidis, J.P.A. (John), Kraft, P. (Peter), Lin, D.Y. (Dan), Liu, J. (Jason), Muglia, P. (Pierandrea), Waterworth, D. (Dawn), Pillai, A.D. (Ajay), Middleton, L. (Lefkos), Berrettini, W. (Wade), Knouff, C.W. (Christopher), Yuan, X. (Xin), Waeber, G. (Gérard), Vollenweider, P. (Peter), Preisig, M. (Martin), Wareham, N.J. (Nick), Zhao, J.H. (Jing Hua), Loos, R.J.F. (Ruth), Barroso, I.E. (Inês), Khaw, K-T. (Kay-Tee), Grundy, S.M. (Scott), Barter, P. (Phil), Mahley, R. (Robert), Kesaniemi, Y.A. (Antero), McPherson, R. (Ruth), Vincent, J. (John), Strauss, J.S. (John S), Kennedy, J. (James), Farmer, A.E. (Anne E), Mcguffin, P. (Peter), Day, R.N. (Richard), Matthews, K. (Keith), Bakke, A.B. (Arnold B.), Gulsvik, A. (Amund), Lucae, S. (Susanne), Ising, M. (Marcus), Brueckl, T. (Tanja), Horstmann, S. (Sonja), Heinrich, J. (Joachim), Lamina, C. (Claudia), Polasek, O. (Ozren), Zgaga, L. (Lina), Huffman, J.E. (Jennifer), Campbell, S. (Susan), Kooner, J.S. (Jaspal), Chambers, J.C. (John), Burnett, M.S., Devaney, J. (Joseph), Pichard, A.D., Kent, K.M. (Kenneth), Satler, L.F., Lindsay, J.M. (Joseph), Waksman, R. (Ron), Epstein, S.E. (Stephen), Wilson, J.F. (James), Wild, S.H. (Sarah), Campbell, H. (Harry), Vitart, V. (Veronique), Reilly, M.P. (Muredach), Li, M. (Mingyao), Qu, L. (Liming), Wilensky, A. (Asaf), Matthai, W. (William), Hakonarson, H. (Hakon), Rader, D.J. (Daniel), Franke, A. (Andre), Wittig, M. (Michael), Schäfer, A. (Arne), Uda, M. (Manuela), Terracciano, A., Xiao, X. (Xiangjun), Busonero, F., Scheet, P. (Paul), Schlessinger, D., Clair, D.S., Rujescu, D. (Dan), Abecasis, G.R. (Gonçalo), Grabe, H.J. (Hans Jörgen), Teumer, A. (Alexander), Völzke, H. (Henry), Petersmann, A. (Astrid), John, U. (Ulrich), Rudan, I. (Igor), Hayward, C. (Caroline), Wright, A.F. (Alan), Kolcic, I. (Ivana), Wright, B.J. (Benjamin), Balmforth, A.J. (Anthony), Anderson, C. (Carl), Ahmed, T. (Tariq), Mathew, J. (Joseph), Parkes, M. (Miles), Satsangi, J. (Jack), Caulfield, M. (Mark), Munroe, P. (Patricia), Farrall, M. (Martin), Dominiczak, A. (Anna), Worthington, H. (Helen), Thomson, W. (Wendy), Eyre, D.S. (Dylan Samuel), Barton, A. (Anne), Mooser, V. (Vincent), and Francks, C. (Clyde)
Abstract: Smoking influences body weight such that smokers weigh less than non-smokers and smoking cessation often leads to weight increase. The relationship between body weight and smoking is partly explained by the effect of nicotine on appetite and metabolism. However, the brain reward system is involved in the control of the intake of both food and tobacco. We evaluated the effect of single-nucleotide polymorphisms (SNPs) affecting body mass index (BMI) on smoking behavior, and tested the 32 SNPs identified in a meta-analysis for association with two smoking phenotypes, smoking initiation (SI) and the number of cigarettes smoked per day (CPD) in an Icelandic sample (N=34 216 smokers). Combined according to their effect on BMI, the SNPs correlate with both SI (r=0.019, P=0.00054) and CPD (r=0.032, P=8.0 × 10-7). These findings replicate in a second large data set (N=127 274, thereof 76 242 smokers) for both SI (P=1.2 × 10-5) and CPD (P=9.3 × 10-5). Notably, the variant most strongly associated with BMI (rs1558902-A in FTO) did not associate with smoking behavior. The association with smoking behavior is not due to the effect of the SNPs on BMI. Our results strongly point to a common biological basis of the regulation of our appetite for tobacco and food, and thus the vulnerability to nicotine addiction and obesity.
Published: 2013
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11. Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1

Author: Bown, M.J., Jones, G.T., Harrison, S.C., Wright, B.J., Bumpstead, S., Baas, A.F., Gretarsdottir, S., Badger, S.A., Bradley, D.T., Burnand, K., Child, A.H., Clough, R.E., Cockerill, G., Hafez, H., Scott, D.J., Futers, S., Johnson, A., Sohrabi, S., Smith, A., Thompson, M.M., Bockxmeer, F.M. van, Waltham, M., Matthiasson, S.E., Thorleifsson, G., Thorsteinsdottir, U., Blankensteijn, J.D., Teijink, J.A., Wijmenga, C., Graaf, J. de, Kiemeney, L.A.L.M., Assimes, T.L., McPherson, R., Folkersen, L., Franco-Cereceda, A., Palmen, J., Smith, A.J., Sylvius, N., Wild, J.B., Refstrup, M., Edkins, S., Gwilliam, R., Hunt, S.E., Potter, S., Lindholt, J.S., Frikke-Schmidt, R., Tybjaerg-Hansen, A., Hughes, A.E., Golledge, J., Norman, P.E., Rij, A. van, Powell, J.T., Eriksson, P., Stefansson, K., Thompson, J.R., Humphries, S.E., Sayers, R.D., Deloukas, P., Samani, N.J., Bown, M.J., Jones, G.T., Harrison, S.C., Wright, B.J., Bumpstead, S., Baas, A.F., Gretarsdottir, S., Badger, S.A., Bradley, D.T., Burnand, K., Child, A.H., Clough, R.E., Cockerill, G., Hafez, H., Scott, D.J., Futers, S., Johnson, A., Sohrabi, S., Smith, A., Thompson, M.M., Bockxmeer, F.M. van, Waltham, M., Matthiasson, S.E., Thorleifsson, G., Thorsteinsdottir, U., Blankensteijn, J.D., Teijink, J.A., Wijmenga, C., Graaf, J. de, Kiemeney, L.A.L.M., Assimes, T.L., McPherson, R., Folkersen, L., Franco-Cereceda, A., Palmen, J., Smith, A.J., Sylvius, N., Wild, J.B., Refstrup, M., Edkins, S., Gwilliam, R., Hunt, S.E., Potter, S., Lindholt, J.S., Frikke-Schmidt, R., Tybjaerg-Hansen, A., Hughes, A.E., Golledge, J., Norman, P.E., Rij, A. van, Powell, J.T., Eriksson, P., Stefansson, K., Thompson, J.R., Humphries, S.E., Sayers, R.D., Deloukas, P., and Samani, N.J.
Abstract: Contains fulltext : 97601.pdf (publisher's version ) (Closed access), Abdominal aortic aneurysm (AAA) is a common cause of morbidity and mortality and has a significant heritability. We carried out a genome-wide association discovery study of 1866 patients with AAA and 5435 controls and replication of promising signals (lead SNP with a p value < 1 x 10(-5)) in 2871 additional cases and 32,687 controls and performed further follow-up in 1491 AAA and 11,060 controls. In the discovery study, nine loci demonstrated association with AAA (p < 1 x 10(-5)). In the replication sample, the lead SNP at one of these loci, rs1466535, located within intron 1 of low-density-lipoprotein receptor-related protein 1 (LRP1) demonstrated significant association (p = 0.0042). We confirmed the association of rs1466535 and AAA in our follow-up study (p = 0.035). In a combined analysis (6228 AAA and 49182 controls), rs1466535 had a consistent effect size and direction in all sample sets (combined p = 4.52 x 10(-10), odds ratio 1.15 [1.10-1.21]). No associations were seen for either rs1466535 or the 12q13.3 locus in independent association studies of coronary artery disease, blood pressure, diabetes, or hyperlipidaemia, suggesting that this locus is specific to AAA. Gene-expression studies demonstrated a trend toward increased LRP1 expression for the rs1466535 CC genotype in arterial tissues; there was a significant (p = 0.029) 1.19-fold (1.04-1.36) increase in LRP1 expression in CC homozygotes compared to TT homozygotes in aortic adventitia. Functional studies demonstrated that rs1466535 might alter a SREBP-1 binding site and influence enhancer activity at the locus. In conclusion, this study has identified a biologically plausible genetic variant associated specifically with AAA, and we suggest that this variant has a possible functional role in LRP1 expression.
Published: 2011

12. Large-scale gene-centric analysis identifies novel variants for coronary artery disease

Author: Butterworth, A.S., Braund, P.S., Hardwick, R.J., Saleheen, D., Peden, J.F., Soranzo, N., Chambers, J.C., Kleber, M.E., Keating, B., Qasim, A., Klopp, N., Erdmann, J., Basart, H., Baumert, J.H., Bezzina, C.R., Boehm, B.O., Brocheton, J., Bugert, P., Cambien, F., Collins, R., Couper, D., Jong, J.S. de, Diemert, P., Ejebe, K., Elbers, C.C., Elliott, P., Fornage, M., Frossard, P., Garner, S., Hunt, S.E., Kastelein, J.J., Klungel, O.H., Kluter, H., Koch, K., Konig, I.R., Kooner, A.S., Liu, K., McPherson, R., Musameh, M.D., Musani, S., Papanicolaou, G., Peters, A., Peters, B.J., Potter, S., Psaty, B.M., Rasheed, A., Scott, J., Seedorf, U., Sehmi, J.S., Sotoodehnia, N., Stark, K., Stephens, J., Schoot, C.E. van der, Schouw, Y.T. van der, Harst, P. van der, Vasan, R.S., Wilde, A.A., Willenborg, C., Winkelmann, B.R., Zaidi, M., Zhang, W., Ziegler, A., Koenig, W., Matz, W., Trip, M.D., Reilly, M.P., Kathiresan, S., Schunkert, H., Hamsten, A., Hall, A.S., Kooner, J.S., Thompson, S.G., Thompson, J.R., Watkins, H., Danesh, J., Barnes, T., Rafelt, S., Codd, V., Bruinsma, N., Dekker, L.R., Henriques, J.P., Koch, K.T., Winter, R.J. de, Alings, M., Allaart, C.F., Gorgels, A.P., Verheugt, F.W.A., Mueller, M., Meisinger, C., DerOhannessian, S., Mehta, N.N., Ferguson, J., Hakonarson, H., Matthai, W., Wilensky, R., Hopewell, J.C., Parish, S., Linksted, P., Notman, J., Gonzalez, H., Young, A., Ostley, T., Munday, A., Goodwin, N., Verdon, V., Shah, S., Edwards, C., Mathews, C., Gunter, R., Benham, J., Davies, C., Cobb, M., Cobb, L., Crowther, J., Richards, A., Silver, M., Tochlin, S., Mozley, S., Clark, S., Radley, M., Kourellias, K., Olsson, P., Barlera, S., Tognoni, G., Rust, S., Assmann, G., Heath, S., Zelenika, D., Gut, I., Green, F., Farrall, M., Goel, A., Ongen, H., Franzosi, M.G., Lathrop, M., Clarke, R., Aly, A., Anner, K., Bjorklund, K., Blomgren, G., Cederschiold, B., Danell-Toverud, K., Eriksson, P., Grundstedt, U., Heinonen, M., Hellenius, M.L., Hooft, F. van 't, Husman, K., Lagercrantz, J., Larsson, A., Larsson, M., Mossfeldt, M., Malarstig, A., Olsson, G., Sabater-Lleal, M., Sennblad, B., Silveira, A., Strawbridge, R., Soderholm, B., Ohrvik, J., Zaman, K.S., Mallick, N.H., Azhar, M., Samad, A., Ishaq, M., Shah, N., Samuel, M., Kathiresan, S.C., Assimes, T.L., Holm, H., Preuss, M., Stewart, A.F., Barbalic, M., Gieger, C., Absher, D., Aherrahrou, Z., Allayee, H., Altshuler, D., Anand, S., Andersen, K., Anderson, J.L., Ardissino, D., Ball, S.G., Balmforth, A.J., Barnes, T.A., Becker, L.C., Becker, D.M., Berger, K., Bis, J.C., Boekholdt, S.M., Boerwinkle, E., Brown, M.J., Burnett, M.S., Buysschaert, I., Carlquist, J.F., Chen, L., Davies, R.W., Dedoussis, G., Dehghan, A., Demissie, S., Devaney, J., Do, R., Doering, A., El Mokhtari, N.E., Ellis, S.G., Elosua, R., Engert, J.C., Epstein, S., Faire, U. de, Fischer, M., Folsom, A.R., Freyer, J., Gigante, B., Girelli, D., Gretarsdottir, S., Gudnason, V., Gulcher, J.R., Tennstedt, S., Halperin, E., Hammond, N., Hazen, S.L., Hofman, A., Horne, B.D., Illig, T., Iribarren, C., Jones, G.T., Jukema, J.W., Kaiser, M.A., Kaplan, L.M., Khaw, K.T., Knowles, J.W., Kolovou, G., Kong, A., Laaksonen, R., Lambrechts, D., Leander, K., Li, M., Lieb, W., Lettre, G., Loley, C., Lotery, A.J., Mannucci, P.M., Martinelli, N., McKeown, P.P., Meitinger, T., Melander, O., Merlini, P.A., Mooser, V., Morgan, T., Muhleisen T.W., ., Muhlestein, J.B., Musunuru, K., Nahrstaedt, J., Nothen, Markus, Olivieri, O., Peyvandi, F., Patel, R.S., Patterson, C.C., Qu, L., Quyyumi, A.A., Rader, D.J., Rallidis, L.S., Rice, C., Roosendaal, F.R., Rubin, D., Salomaa, V., Sampietro, M.L., Sandhu, M.S., Schadt, E., Schafer, A., Schillert, A., Schreiber, S., Schrezenmeir, J., Schwartz, S.M., Siscovick, D.S., Sivananthan, M., Sivapalaratnam, S., Smith, A.V., Smith, T.B., Snoep, J.D., Spertus, J.A., Stefansson, K., Stirrups, K., Stoll, M., Tang, W.H., Thorgeirsson, G., Thorleifsson, G., Tomaszewski, M., Uitterlinden, A.G., Rij, A.M. van, Voight, B.F., Wareham, N.J., AWells, G., Wichmann, H.E., Witteman, J.C., Wright, B.J., Ye, S., Cupples, L.A., Quertermous, T., Marz, W., Blankenberg, S., Thorsteinsdottir, U., Roberts, R., O'Donnell, C.J., Onland-Moret, N.C., Setten, J. van, Bakker, P.I. de, Verschuren, W.M., Boer, J.M., Wijmenga, C., Hofker, M.H., Maitland-van der Zee, A.H., Boer, A. de, Grobbee, D.E., Attwood, T., Belz, S., Cooper, J., Crisp-Hihn, A., Deloukas, P., Foad, N., Goodall, A.H., Gracey, J., Gray, E., Gwilliams, R., Heimerl, S., Hengstenberg, C., Jolley, J., Krishnan, U., Lloyd-Jones, H., Lugauer, I., Lundmark, P., Maouche, S., Moore, J.S., Muir, D., Murray, E., Nelson, C.P., Neudert, J., Niblett, D., O'Leary, K., Ouwehand, W.H., Pollard, H., Rankin, A., Rice, C.M., Sager, H., Samani, N.J., Sambrook, J., Schmitz, G., Scholz, M., Schroeder, L., Syvannen, A.C., Wallace, C., Butterworth, A.S., Braund, P.S., Hardwick, R.J., Saleheen, D., Peden, J.F., Soranzo, N., Chambers, J.C., Kleber, M.E., Keating, B., Qasim, A., Klopp, N., Erdmann, J., Basart, H., Baumert, J.H., Bezzina, C.R., Boehm, B.O., Brocheton, J., Bugert, P., Cambien, F., Collins, R., Couper, D., Jong, J.S. de, Diemert, P., Ejebe, K., Elbers, C.C., Elliott, P., Fornage, M., Frossard, P., Garner, S., Hunt, S.E., Kastelein, J.J., Klungel, O.H., Kluter, H., Koch, K., Konig, I.R., Kooner, A.S., Liu, K., McPherson, R., Musameh, M.D., Musani, S., Papanicolaou, G., Peters, A., Peters, B.J., Potter, S., Psaty, B.M., Rasheed, A., Scott, J., Seedorf, U., Sehmi, J.S., Sotoodehnia, N., Stark, K., Stephens, J., Schoot, C.E. van der, Schouw, Y.T. van der, Harst, P. van der, Vasan, R.S., Wilde, A.A., Willenborg, C., Winkelmann, B.R., Zaidi, M., Zhang, W., Ziegler, A., Koenig, W., Matz, W., Trip, M.D., Reilly, M.P., Kathiresan, S., Schunkert, H., Hamsten, A., Hall, A.S., Kooner, J.S., Thompson, S.G., Thompson, J.R., Watkins, H., Danesh, J., Barnes, T., Rafelt, S., Codd, V., Bruinsma, N., Dekker, L.R., Henriques, J.P., Koch, K.T., Winter, R.J. de, Alings, M., Allaart, C.F., Gorgels, A.P., Verheugt, F.W.A., Mueller, M., Meisinger, C., DerOhannessian, S., Mehta, N.N., Ferguson, J., Hakonarson, H., Matthai, W., Wilensky, R., Hopewell, J.C., Parish, S., Linksted, P., Notman, J., Gonzalez, H., Young, A., Ostley, T., Munday, A., Goodwin, N., Verdon, V., Shah, S., Edwards, C., Mathews, C., Gunter, R., Benham, J., Davies, C., Cobb, M., Cobb, L., Crowther, J., Richards, A., Silver, M., Tochlin, S., Mozley, S., Clark, S., Radley, M., Kourellias, K., Olsson, P., Barlera, S., Tognoni, G., Rust, S., Assmann, G., Heath, S., Zelenika, D., Gut, I., Green, F., Farrall, M., Goel, A., Ongen, H., Franzosi, M.G., Lathrop, M., Clarke, R., Aly, A., Anner, K., Bjorklund, K., Blomgren, G., Cederschiold, B., Danell-Toverud, K., Eriksson, P., Grundstedt, U., Heinonen, M., Hellenius, M.L., Hooft, F. van 't, Husman, K., Lagercrantz, J., Larsson, A., Larsson, M., Mossfeldt, M., Malarstig, A., Olsson, G., Sabater-Lleal, M., Sennblad, B., Silveira, A., Strawbridge, R., Soderholm, B., Ohrvik, J., Zaman, K.S., Mallick, N.H., Azhar, M., Samad, A., Ishaq, M., Shah, N., Samuel, M., Kathiresan, S.C., Assimes, T.L., Holm, H., Preuss, M., Stewart, A.F., Barbalic, M., Gieger, C., Absher, D., Aherrahrou, Z., Allayee, H., Altshuler, D., Anand, S., Andersen, K., Anderson, J.L., Ardissino, D., Ball, S.G., Balmforth, A.J., Barnes, T.A., Becker, L.C., Becker, D.M., Berger, K., Bis, J.C., Boekholdt, S.M., Boerwinkle, E., Brown, M.J., Burnett, M.S., Buysschaert, I., Carlquist, J.F., Chen, L., Davies, R.W., Dedoussis, G., Dehghan, A., Demissie, S., Devaney, J., Do, R., Doering, A., El Mokhtari, N.E., Ellis, S.G., Elosua, R., Engert, J.C., Epstein, S., Faire, U. de, Fischer, M., Folsom, A.R., Freyer, J., Gigante, B., Girelli, D., Gretarsdottir, S., Gudnason, V., Gulcher, J.R., Tennstedt, S., Halperin, E., Hammond, N., Hazen, S.L., Hofman, A., Horne, B.D., Illig, T., Iribarren, C., Jones, G.T., Jukema, J.W., Kaiser, M.A., Kaplan, L.M., Khaw, K.T., Knowles, J.W., Kolovou, G., Kong, A., Laaksonen, R., Lambrechts, D., Leander, K., Li, M., Lieb, W., Lettre, G., Loley, C., Lotery, A.J., Mannucci, P.M., Martinelli, N., McKeown, P.P., Meitinger, T., Melander, O., Merlini, P.A., Mooser, V., Morgan, T., Muhleisen T.W., ., Muhlestein, J.B., Musunuru, K., Nahrstaedt, J., Nothen, Markus, Olivieri, O., Peyvandi, F., Patel, R.S., Patterson, C.C., Qu, L., Quyyumi, A.A., Rader, D.J., Rallidis, L.S., Rice, C., Roosendaal, F.R., Rubin, D., Salomaa, V., Sampietro, M.L., Sandhu, M.S., Schadt, E., Schafer, A., Schillert, A., Schreiber, S., Schrezenmeir, J., Schwartz, S.M., Siscovick, D.S., Sivananthan, M., Sivapalaratnam, S., Smith, A.V., Smith, T.B., Snoep, J.D., Spertus, J.A., Stefansson, K., Stirrups, K., Stoll, M., Tang, W.H., Thorgeirsson, G., Thorleifsson, G., Tomaszewski, M., Uitterlinden, A.G., Rij, A.M. van, Voight, B.F., Wareham, N.J., AWells, G., Wichmann, H.E., Witteman, J.C., Wright, B.J., Ye, S., Cupples, L.A., Quertermous, T., Marz, W., Blankenberg, S., Thorsteinsdottir, U., Roberts, R., O'Donnell, C.J., Onland-Moret, N.C., Setten, J. van, Bakker, P.I. de, Verschuren, W.M., Boer, J.M., Wijmenga, C., Hofker, M.H., Maitland-van der Zee, A.H., Boer, A. de, Grobbee, D.E., Attwood, T., Belz, S., Cooper, J., Crisp-Hihn, A., Deloukas, P., Foad, N., Goodall, A.H., Gracey, J., Gray, E., Gwilliams, R., Heimerl, S., Hengstenberg, C., Jolley, J., Krishnan, U., Lloyd-Jones, H., Lugauer, I., Lundmark, P., Maouche, S., Moore, J.S., Muir, D., Murray, E., Nelson, C.P., Neudert, J., Niblett, D., O'Leary, K., Ouwehand, W.H., Pollard, H., Rankin, A., Rice, C.M., Sager, H., Samani, N.J., Sambrook, J., Schmitz, G., Scholz, M., Schroeder, L., Syvannen, A.C., and Wallace, C.
Abstract: Contains fulltext : 98050.pdf (publisher's version ) (Open Access), Coronary artery disease (CAD) has a significant genetic contribution that is incompletely characterized. To complement genome-wide association (GWA) studies, we conducted a large and systematic candidate gene study of CAD susceptibility, including analysis of many uncommon and functional variants. We examined 49,094 genetic variants in approximately 2,100 genes of cardiovascular relevance, using a customised gene array in 15,596 CAD cases and 34,992 controls (11,202 cases and 30,733 controls of European descent; 4,394 cases and 4,259 controls of South Asian origin). We attempted to replicate putative novel associations in an additional 17,121 CAD cases and 40,473 controls. Potential mechanisms through which the novel variants could affect CAD risk were explored through association tests with vascular risk factors and gene expression. We confirmed associations of several previously known CAD susceptibility loci (eg, 9p21.3:p<10(-33); LPA:p<10(-19); 1p13.3:p<10(-17)) as well as three recently discovered loci (COL4A1/COL4A2, ZC3HC1, CYP17A1:p<5x10(-7)). However, we found essentially null results for most previously suggested CAD candidate genes. In our replication study of 24 promising common variants, we identified novel associations of variants in or near LIPA, IL5, TRIB1, and ABCG5/ABCG8, with per-allele odds ratios for CAD risk with each of the novel variants ranging from 1.06-1.09. Associations with variants at LIPA, TRIB1, and ABCG5/ABCG8 were supported by gene expression data or effects on lipid levels. Apart from the previously reported variants in LPA, none of the other approximately 4,500 low frequency and functional variants showed a strong effect. Associations in South Asians did not differ appreciably from those in Europeans, except for 9p21.3 (per-allele odds ratio: 1.14 versus 1.27 respectively; P for heterogeneity = 0.003). This large-scale gene-centric analysis has identified several novel genes for CAD that relate to diverse biochemical and cellular f
Published: 2011

13. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

Author: International Consortium for Blood Pressure Genome-Wide Association Studies, CARDIoGRAM consortium, CKDGen Consortium, KidneyGen Consortium, EchoGen consortium, CHARGE-HF consortium, Ehret, G.B., Munroe, P.B., Rice, K.M., Bochud, M., Johnson, A.D., Chasman, D.I., Smith, A.V., Tobin, M.D., Verwoert, G.C., Hwang, S.J., Pihur, V., Vollenweider, P., O'Reilly, P.F., Amin, N., Bragg-Gresham, J.L., Teumer, A., Glazer, N.L., Launer, L., Zhao, J.H., Aulchenko, Y., Heath, S., Sõber, S., Parsa, A., Luan, J., Arora, P., Dehghan, A., Zhang, F., Lucas, G., Hicks, A.A., Jackson, A.U., Peden, J.F., Tanaka, T., Wild, S.H., Rudan, I., Igl, W., Milaneschi, Y., Parker, A.N., Fava, C., Chambers, J.C., Fox, E.R., Kumari, M., Go, M.J., van der Harst, P., Kao, W.H., Sjögren, M., Vinay, D.G., Alexander, M., Tabara, Y., Shaw-Hawkins, S., Whincup, P.H., Liu, Y., Shi, G., Kuusisto, J., Tayo, B., Seielstad, M., Sim, X., Nguyen, K.D., Lehtimäki, T., Matullo, G., Wu, Y., Gaunt, T.R., Onland-Moret, N.C., Cooper, M.N., Platou, C.G., Org, E., Hardy, R., Dahgam, S., Palmen, J., Vitart, V., Braund, P.S., Kuznetsova, T., Uiterwaal, C.S., Adeyemo, A., Palmas, W., Campbell, H., Ludwig, B., Tomaszewski, M., Tzoulaki, I., Palmer, N.D., Aspelund, T., Garcia, M., Chang, Y.P., O'Connell, J.R., Steinle, N.I., Grobbee, D.E., Arking, D.E., Kardia, S.L., Morrison, A.C., Hernandez, D., Najjar, S., McArdle, W.L., Hadley, D., Brown, M.J., Connell, J.M., Hingorani, A.D., Day, I.N., Lawlor, D.A., Beilby, J.P., Lawrence, R.W., Clarke, R., Hopewell, J.C., Ongen, H., Dreisbach, A.W., Li, Y., Young, J.H., Bis, J.C., Kähönen, M., Viikari, J., Adair, L.S., Lee, N.R., Chen, M.H., Olden, M., Pattaro, C., Bolton, J.A., Köttgen, A., Bergmann, S., Mooser, V., Chaturvedi, N., Frayling, T.M., Islam, M., Jafar, T.H., Erdmann, J., Kulkarni, S.R., Bornstein, S.R., Grässler, J., Groop, L., Voight, B.F., Kettunen, J., Howard, P., Taylor, A., Guarrera, S., Ricceri, F., Emilsson, V., Plump, A., Barroso, I., Khaw, K.T., Weder, A.B., Hunt, S.C., Sun, Y.V., Bergman, R.N., Collins, F.S., Bonnycastle, L.L., Scott, L.J., Stringham, H.M., Peltonen, L., Perola, M., Vartiainen, E., Brand, S.M., Staessen, J.A., Wang, T.J., Burton, P.R., Artigas, M.S., Dong, Y., Snieder, H., Wang, X., Zhu, H., Lohman, K.K., Rudock, M.E., Heckbert, S.R., Smith, N.L., Wiggins, K.L., Doumatey, A., Shriner, D., Veldre, G., Viigimaa, M., Kinra, S., Prabhakaran, D., Tripathy, V., Langefeld, C.D., Rosengren, A., Thelle, D.S., Corsi, A.M., Singleton, A., Forrester, T., Hilton, G., McKenzie, C.A., Salako, T., Iwai, N., Kita, Y., Ogihara, T., Ohkubo, T., Okamura, T., Ueshima, H., Umemura, S., Eyheramendy, S., Meitinger, T., Wichmann, H.E., Cho, Y.S., Kim, H.L., Lee, J.Y., Scott, J., Sehmi, J.S., Zhang, W., Hedblad, B., Nilsson, P., Smith, G.D., Wong, A., Narisu, N., Stančáková, A., Raffel, L.J., Yao, J., Kathiresan, S., O'Donnell, C.J., Schwartz, S.M., Ikram, M.A., Longstreth, W.T., Mosley, T.H., Seshadri, S., Shrine, N.R., Wain, L.V., Morken, M.A., Swift, A.J., Laitinen, J., Prokopenko, I., Zitting, P., Cooper, J.A., Humphries, S.E., Danesh, J., Rasheed, A., Goel, A., Hamsten, A., Watkins, H., Bakker, S.J., van Gilst, W.H., Janipalli, C.S., Mani, K.R., Yajnik, C.S., Hofman, A., Mattace-Raso, F.U., Oostra, B.A., Demirkan, A., Isaacs, A., Rivadeneira, F., Lakatta, E.G., Orru, M., Scuteri, A., Ala-Korpela, M., Kangas, A.J., Lyytikäinen, L.P., Soininen, P., Tukiainen, T., Würtz, P., Ong, R.T., Dörr, M., Kroemer, H.K., Völker, U., Völzke, H., Galan, P., Hercberg, S., Lathrop, M., Zelenika, D., Deloukas, P., Mangino, M., Spector, T.D., Zhai, G., Meschia, J.F., Nalls, M.A., Sharma, P., Terzic, J., Kumar, M.V., Denniff, M., Zukowska-Szczechowska, E., Wagenknecht, L.E., Fowkes, F.G., Charchar, F.J., Schwarz, P.E., Hayward, C., Guo, X., Rotimi, C., Bots, M.L., Brand, E., Samani, N.J., Polasek, O., Talmud, P.J., Nyberg, F., Kuh, D., Laan, M., Hveem, K., Palmer, L.J., van der Schouw, Y.T., Casas, J.P., Mohlke, K.L., Vineis, P., Raitakari, O., Ganesh, S.K., Wong, T.Y., Tai, E.S., Cooper, R.S., Laakso, M., Rao, D.C., Harris, T.B., Morris, R.W., Dominiczak, A.F., Kivimaki, M., Marmot, M.G., Miki, T., Saleheen, D., Chandak, G.R., Coresh, J., Navis, G., Salomaa, V., Han, B.G., Zhu, X., Kooner, J.S., Melander, O., Ridker, P.M., Bandinelli, S., Gyllensten, U.B., Wright, A.F., Wilson, J.F., Ferrucci, L., Farrall, M., Tuomilehto, J., Pramstaller, P.P., Elosua, R., Soranzo, N., Sijbrands, E.J., Altshuler, D., Loos, R.J., Shuldiner, A.R., Gieger, C., Meneton, P., Uitterlinden, A.G., Wareham, N.J., Gudnason, V., Rotter, J.I., Rettig, R., Uda, M., Strachan, D.P., Witteman, J.C., Hartikainen, A.L., Beckmann, J.S., Boerwinkle, E., Vasan, R.S., Boehnke, M., Larson, M.G., Järvelin, M.R., Psaty, B.M., Abecasis, G.R., Chakravarti, A., Elliott, P., van Duijn, C.M., Newton-Cheh, C., Levy, D., Caulfield, M.J., Johnson, T., Tang, H., Knowles, J., Hlatky, M., Fortmann, S., Assimes, T.L., Quertermous, T., Go, A., Iribarren, C., Absher, D., Risch, N., Myers, R., Sidney, S., Ziegler, A., Schillert, A., Bickel, C., Sinning, C., Rupprecht, H.J., Lackner, K., Wild, P., Schnabel, R., Blankenberg, S., Zeller, T., Münzel, T., Perret, C., Cambien, F., Tiret, L., Nicaud, V., Proust, C., Uitterlinden, A., van Duijn, C., Whitteman, J., Cupples, L.A., Demissie-Banjaw, S., Ramachandran, V., Smith, A., Folsom, A., Morrison, A., Chen, I.Y., Bis, J., Volcik, K., Rice, K., Taylor, K.D., Marciante, K., Smith, N., Glazer, N., Heckbert, S., Harris, T., Lumley, T., Kong, A., Thorleifsson, G., Thorgeirsson, G., Holm, H., Gulcher, J.R., Stefansson, K., Andersen, K., Gretarsdottir, S., Thorsteinsdottir, U., Preuss, M., Schreiber, S., König, I.R., Lieb, W., Hengstenberg, C., Schunkert, H., Fischer, M., Grosshennig, A., Medack, A., Stark, K., Linsel-Nitschke, P., Bruse, P., Aherrahrou, Z., Peters, A., Loley, C., Willenborg, C., Nahrstedt, J., Freyer, J., Gulde, S., Doering, A., Meisinger, C., Klopp, N., Illig, T., Meinitzer, A., Tomaschitz, A., Halperin, E., Dobnig, H., Scharnagl, H., Kleber, M., Laaksonen, R., Pilz, S., Grammer, T.B., Stojakovic, T., Renner, W., März, W., Böhm, B.O., Winkelmann, B.R., Winkler, K., Hoffmann, M.M., Siscovick, D.S., Musunuru, K., Barbalic, M., Guiducci, C., Burtt, N., Gabriel, S.B., Stewart, A.F., Wells, G.A., Chen, L., Jarinova, O., Roberts, R., McPherson, R., Dandona, S., Pichard, A.D., Rader, D.J., Devaney, J., Lindsay, J.M., Kent, K.M., Qu, L., Satler, L., Burnett, M.S., Li, M., Reilly, M.P., Wilensky, R., Waksman, R., Epstein, S., Matthai, W., Knouff, C.W., Waterworth, D.M., Hakonarson, H.H., Walker, M.C., Hall, A.S., Balmforth, A.J., Wright, B.J., Nelson, C., Thompson, J.R., Ball, S.G., Felix, J.F., Demissie, S., Loehr, L.R., Rosamond, W.D., Folsom, A.R., Benjamin, E., Aulchenko, Y.S., Haritunians, T., Couper, D., Murabito, J., Wang, Y.A., Stricker, B.H., Gottdiener, J.S., Chang, P.P., Willerson, J.T., Böger, C.A., Fuchsberger, C., Gao, X., Yang, Q., Schmidt, H., Ketkar, S., Paré, G., Atkinson, E.J., Lohman, K., Cornelis, M.C., Probst-Hensch, N.M., Kronenberg, F., Tönjes, A., Eiriksdottir, G., Launer, L.J., Rampersaud, E., Mitchell, B.D., Struchalin, M., Cavalieri, M., Giallauria, F., Metter, J., de Boer, J., Siscovick, D., Zillikens, M.C., Feitosa, M., Province, M., de Andrade, M., Turner, S.T., Wild, P.S., Schnabel, R.B., Wilde, S., Munzel, T.F., Leak, T.S., Koenig, W., Zgaga, L., Zemunik, T., Kolcic, I., Minelli, C., Hu, F.B., Johansson, A., Zaboli, G., Ellinghaus, D., Imboden, M., Nitsch, D., Brandstätter, A., Kollerits, B., Kedenko, L., Mägi, R., Stumvoll, M., Kovacs, P., Boban, M., Campbell, S., Endlich, K., Nauck, M., Badola, S., Curhan, G.C., Franke, A., Rochat, T., Paulweber, B., Wang, W., Schmidt, R., Shlipak, M.G., Borecki, I., Krämer, B.K., Gyllensten, U., Hastie, N., Heid, I.M., Fox, C.S., Felix, S.B., Watzinger, N., Homuth, G., Aragam, J., Zweiker, R., Lind, L., Rodeheffer, R.J., Greiser, K.H., Deckers, J.W., Stritzke, J., Lackner, K.J., Ingelsson, E., Kullo, I., Haerting, J., Reffelmann, T., Redfield, M.M., Werdan, K., Mitchell, G.F., Arnett, D.K., Blettner, M., Friedrich, N., Benjamin, E.J., Lord, G.M., Gale, D.P., Wass, M.N., Ahmadi, K.R., Beckmann, J., Bilo, H.J., Cook, H.T., Cotlarciuc, I., Davey Smith, G., de Silva, R., Deng, G., Devuyst, O., Dikkeschei, L.D., Dimkovic, N., Dockrell, M., Dominiczak, A., Ebrahim, S., Eggermann, T., Floege, J., Forouhi, N.G., Gansevoort, R.T., Han, X., Homan van der Heide, J.J., Hepkema, B.G., Hernandez-Fuentes, M., Hypponen, E., de Jong, P.E., Kleefstra, N., Lagou, V., Lapsley, M., Luttropp, K., Maréchal, C., Nordfors, L., Penninx, B.W., Perucha, E., Pouta, A., Roderick, P.J., Ruokonen, A., Sanna, S., Schalling, M., Schlessinger, D., Schlieper, G., Seelen, M.A., Smit, J.H., Stenvinkel, P., Sternberg, M.J., Swaminathan, R., Ubink-Veltmaat, L.J., Wallace, C., Waterworth, D., Zerres, K., Waeber, G., Maxwell, P.H., McCarthy, M.I., Jarvelin, M.R., Lightstone, L., International Consortium for Blood Pressure Genome-Wide Association Studies, CARDIoGRAM consortium, CKDGen Consortium, KidneyGen Consortium, EchoGen consortium, CHARGE-HF consortium, Ehret, G.B., Munroe, P.B., Rice, K.M., Bochud, M., Johnson, A.D., Chasman, D.I., Smith, A.V., Tobin, M.D., Verwoert, G.C., Hwang, S.J., Pihur, V., Vollenweider, P., O'Reilly, P.F., Amin, N., Bragg-Gresham, J.L., Teumer, A., Glazer, N.L., Launer, L., Zhao, J.H., Aulchenko, Y., Heath, S., Sõber, S., Parsa, A., Luan, J., Arora, P., Dehghan, A., Zhang, F., Lucas, G., Hicks, A.A., Jackson, A.U., Peden, J.F., Tanaka, T., Wild, S.H., Rudan, I., Igl, W., Milaneschi, Y., Parker, A.N., Fava, C., Chambers, J.C., Fox, E.R., Kumari, M., Go, M.J., van der Harst, P., Kao, W.H., Sjögren, M., Vinay, D.G., Alexander, M., Tabara, Y., Shaw-Hawkins, S., Whincup, P.H., Liu, Y., Shi, G., Kuusisto, J., Tayo, B., Seielstad, M., Sim, X., Nguyen, K.D., Lehtimäki, T., Matullo, G., Wu, Y., Gaunt, T.R., Onland-Moret, 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K.T., Weder, A.B., Hunt, S.C., Sun, Y.V., Bergman, R.N., Collins, F.S., Bonnycastle, L.L., Scott, L.J., Stringham, H.M., Peltonen, L., Perola, M., Vartiainen, E., Brand, S.M., Staessen, J.A., Wang, T.J., Burton, P.R., Artigas, M.S., Dong, Y., Snieder, H., Wang, X., Zhu, H., Lohman, K.K., Rudock, M.E., Heckbert, S.R., Smith, N.L., Wiggins, K.L., Doumatey, A., Shriner, D., Veldre, G., Viigimaa, M., Kinra, S., Prabhakaran, D., Tripathy, V., Langefeld, C.D., Rosengren, A., Thelle, D.S., Corsi, A.M., Singleton, A., Forrester, T., Hilton, G., McKenzie, C.A., Salako, T., Iwai, N., Kita, Y., Ogihara, T., Ohkubo, T., Okamura, T., Ueshima, H., Umemura, S., Eyheramendy, S., Meitinger, T., Wichmann, H.E., Cho, Y.S., Kim, H.L., Lee, J.Y., Scott, J., Sehmi, J.S., Zhang, W., Hedblad, B., Nilsson, P., Smith, G.D., Wong, A., Narisu, N., Stančáková, A., Raffel, L.J., Yao, J., Kathiresan, S., O'Donnell, C.J., Schwartz, S.M., Ikram, M.A., Longstreth, W.T., Mosley, T.H., Seshadri, S., Shrine, N.R., Wain, L.V., Morken, M.A., Swift, A.J., Laitinen, J., Prokopenko, I., Zitting, P., Cooper, J.A., Humphries, S.E., Danesh, J., Rasheed, A., Goel, A., Hamsten, A., Watkins, H., Bakker, S.J., van Gilst, W.H., Janipalli, C.S., Mani, K.R., Yajnik, C.S., Hofman, A., Mattace-Raso, F.U., Oostra, B.A., Demirkan, A., Isaacs, A., Rivadeneira, F., Lakatta, E.G., Orru, M., Scuteri, A., Ala-Korpela, M., Kangas, A.J., Lyytikäinen, L.P., Soininen, P., Tukiainen, T., Würtz, P., Ong, R.T., Dörr, M., Kroemer, H.K., Völker, U., Völzke, H., Galan, P., Hercberg, S., Lathrop, M., Zelenika, D., Deloukas, P., Mangino, M., Spector, T.D., Zhai, G., Meschia, J.F., Nalls, M.A., Sharma, P., Terzic, J., Kumar, M.V., Denniff, M., Zukowska-Szczechowska, E., Wagenknecht, L.E., Fowkes, F.G., Charchar, F.J., Schwarz, P.E., Hayward, C., Guo, X., Rotimi, C., Bots, M.L., Brand, E., Samani, N.J., Polasek, O., Talmud, P.J., Nyberg, F., Kuh, D., Laan, M., Hveem, K., Palmer, L.J., van der Schouw, Y.T., Casas, J.P., Mohlke, 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Iribarren, C., Absher, D., Risch, N., Myers, R., Sidney, S., Ziegler, A., Schillert, A., Bickel, C., Sinning, C., Rupprecht, H.J., Lackner, K., Wild, P., Schnabel, R., Blankenberg, S., Zeller, T., Münzel, T., Perret, C., Cambien, F., Tiret, L., Nicaud, V., Proust, C., Uitterlinden, A., van Duijn, C., Whitteman, J., Cupples, L.A., Demissie-Banjaw, S., Ramachandran, V., Smith, A., Folsom, A., Morrison, A., Chen, I.Y., Bis, J., Volcik, K., Rice, K., Taylor, K.D., Marciante, K., Smith, N., Glazer, N., Heckbert, S., Harris, T., Lumley, T., Kong, A., Thorleifsson, G., Thorgeirsson, G., Holm, H., Gulcher, J.R., Stefansson, K., Andersen, K., Gretarsdottir, S., Thorsteinsdottir, U., Preuss, M., Schreiber, S., König, I.R., Lieb, W., Hengstenberg, C., Schunkert, H., Fischer, M., Grosshennig, A., Medack, A., Stark, K., Linsel-Nitschke, P., Bruse, P., Aherrahrou, Z., Peters, A., Loley, C., Willenborg, C., Nahrstedt, J., Freyer, J., Gulde, S., Doering, A., Meisinger, C., Klopp, N., Illig, T., Meinitzer, A., Tomaschitz, A., Halperin, E., Dobnig, H., Scharnagl, H., Kleber, M., Laaksonen, R., Pilz, S., Grammer, T.B., Stojakovic, T., Renner, W., März, W., Böhm, B.O., Winkelmann, B.R., Winkler, K., Hoffmann, M.M., Siscovick, D.S., Musunuru, K., Barbalic, M., Guiducci, C., Burtt, N., Gabriel, S.B., Stewart, A.F., Wells, G.A., Chen, L., Jarinova, O., Roberts, R., McPherson, R., Dandona, S., Pichard, A.D., Rader, D.J., Devaney, J., Lindsay, J.M., Kent, K.M., Qu, L., Satler, L., Burnett, M.S., Li, M., Reilly, M.P., Wilensky, R., Waksman, R., Epstein, S., Matthai, W., Knouff, C.W., Waterworth, D.M., Hakonarson, H.H., Walker, M.C., Hall, A.S., Balmforth, A.J., Wright, B.J., Nelson, C., Thompson, J.R., Ball, S.G., Felix, J.F., Demissie, S., Loehr, L.R., Rosamond, W.D., Folsom, A.R., Benjamin, E., Aulchenko, Y.S., Haritunians, T., Couper, D., Murabito, J., Wang, Y.A., Stricker, B.H., Gottdiener, J.S., Chang, P.P., Willerson, J.T., Böger, C.A., Fuchsberger, C., Gao, X., Yang, Q., Schmidt, H., Ketkar, S., Paré, G., Atkinson, E.J., Lohman, K., Cornelis, M.C., Probst-Hensch, N.M., Kronenberg, F., Tönjes, A., Eiriksdottir, G., Launer, L.J., Rampersaud, E., Mitchell, B.D., Struchalin, M., Cavalieri, M., Giallauria, F., Metter, J., de Boer, J., Siscovick, D., Zillikens, M.C., Feitosa, M., Province, M., de Andrade, M., Turner, S.T., Wild, P.S., Schnabel, R.B., Wilde, S., Munzel, T.F., Leak, T.S., Koenig, W., Zgaga, L., Zemunik, T., Kolcic, I., Minelli, C., Hu, F.B., Johansson, A., Zaboli, G., Ellinghaus, D., Imboden, M., Nitsch, D., Brandstätter, A., Kollerits, B., Kedenko, L., Mägi, R., Stumvoll, M., Kovacs, P., Boban, M., Campbell, S., Endlich, K., Nauck, M., Badola, S., Curhan, G.C., Franke, A., Rochat, T., Paulweber, B., Wang, W., Schmidt, R., Shlipak, M.G., Borecki, I., Krämer, B.K., Gyllensten, U., Hastie, N., Heid, I.M., Fox, C.S., Felix, S.B., Watzinger, N., Homuth, G., Aragam, J., Zweiker, R., Lind, L., Rodeheffer, R.J., Greiser, K.H., Deckers, J.W., Stritzke, J., Lackner, K.J., Ingelsson, E., Kullo, I., Haerting, J., Reffelmann, T., Redfield, M.M., Werdan, K., Mitchell, G.F., Arnett, D.K., Blettner, M., Friedrich, N., Benjamin, E.J., Lord, G.M., Gale, D.P., Wass, M.N., Ahmadi, K.R., Beckmann, J., Bilo, H.J., Cook, H.T., Cotlarciuc, I., Davey Smith, G., de Silva, R., Deng, G., Devuyst, O., Dikkeschei, L.D., Dimkovic, N., Dockrell, M., Dominiczak, A., Ebrahim, S., Eggermann, T., Floege, J., Forouhi, N.G., Gansevoort, R.T., Han, X., Homan van der Heide, J.J., Hepkema, B.G., Hernandez-Fuentes, M., Hypponen, E., de Jong, P.E., Kleefstra, N., Lagou, V., Lapsley, M., Luttropp, K., Maréchal, C., Nordfors, L., Penninx, B.W., Perucha, E., Pouta, A., Roderick, P.J., Ruokonen, A., Sanna, S., Schalling, M., Schlessinger, D., Schlieper, G., Seelen, M.A., Smit, J.H., Stenvinkel, P., Sternberg, M.J., Swaminathan, R., Ubink-Veltmaat, L.J., Wallace, C., Waterworth, D., Zerres, K., Waeber, G., Maxwell, P.H., McCarthy, M.I., Jarvelin, M.R., and Lightstone, L.
Abstract: Blood pressure is a heritable trait influenced by several biological pathways and responsive to environmental stimuli. Over one billion people worldwide have hypertension (≥140 mm Hg systolic blood pressure or ≥90 mm Hg diastolic blood pressure). Even small increments in blood pressure are associated with an increased risk of cardiovascular events. This genome-wide association study of systolic and diastolic blood pressure, which used a multi-stage design in 200,000 individuals of European descent, identified sixteen novel loci: six of these loci contain genes previously known or suspected to regulate blood pressure (GUCY1A3-GUCY1B3, NPR3-C5orf23, ADM, FURIN-FES, GOSR2, GNAS-EDN3); the other ten provide new clues to blood pressure physiology. A genetic risk score based on 29 genome-wide significant variants was associated with hypertension, left ventricular wall thickness, stroke and coronary artery disease, but not kidney disease or kidney function. We also observed associations with blood pressure in East Asian, South Asian and African ancestry individuals. Our findings provide new insights into the genetics and biology of blood pressure, and suggest potential novel therapeutic pathways for cardiovascular disease prevention.
Published: 2011

14. Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1

Author: Bown, M.J. (Matthew), Jones, G.T. (Gregory), Harrison, S.C. (Seamus), Wright, B.J. (Benjamin), Bumpstead, S. (Suzannah), Baas, A.F. (Annette), Gretarsdottir, S. (Solveig), Badger, J.H. (Jonathan), Bradley, D.T. (Declan), Burnand, K. (Kevin), Badger, S.A. (Stephen), Child, A.H. (Anne), Clough, R.E. (Rachel), Cockerill, G. (Gillian), Hafez, H. (Hany), Scott, D.J.A. (Julian), Futers, S. (Simon), Johnson, A. (Anne), Sohrabi, S. (Soroush), Smith, A. (Alberto), Thompson, M.J. (Matthew), Bockxmeer, F.M. (Frank) van, Waltham, M. (Matthew), Matthiasson, S.E. (Stefan), Thorleifsson, G. (Gudmar), Thorsteinsdottir, U. (Unnur), Blankensteijn, J.D. (Jan), Teijink, J.A.W. (Joep), Wijmenga, C. (Cisca), Graaf, J. (Jacqueline) de, Kiemeney, L.A.L.M. (Bart), Assimes, T.L. (Themistocles), McPherson, R. (Ruth), Folkersen, L. (Lasse), Franco-Cereceda, A. (Anders), Palmen, J. (Jutta), Smith, A.J. (Andrew), Sylvius, N. (Nicolas), Wild, J.B. (John), Refstrup, M. (Mette), Edkins, S. (Sarah), Gwilliam, R. (Rhian), Hunt, S.E. (Sarah), Potter, S.C. (Simon), Lindholt, J.S. (Jes), Frikke-Schmidt, R. (Ruth), Tybjaerg-Hansen, A. (Anne), Hughes, A.E. (Anne), Golledge, J. (Jonathan), Norman, P.E. (Paul), Rij, A.M. (Andre) van, Powell, J.T. (Janet), Eriksson, P. (Per), Stefansson, K. (Kari), Thompson, J.R. (John), Humphries, S.E. (Steve), Sayers, R.E. (Robert), Deloukas, P. (Panos), Samani, N.J. (Nilesh), Bown, M.J. (Matthew), Jones, G.T. (Gregory), Harrison, S.C. (Seamus), Wright, B.J. (Benjamin), Bumpstead, S. (Suzannah), Baas, A.F. (Annette), Gretarsdottir, S. (Solveig), Badger, J.H. (Jonathan), Bradley, D.T. (Declan), Burnand, K. (Kevin), Badger, S.A. (Stephen), Child, A.H. (Anne), Clough, R.E. (Rachel), Cockerill, G. (Gillian), Hafez, H. (Hany), Scott, D.J.A. (Julian), Futers, S. (Simon), Johnson, A. (Anne), Sohrabi, S. (Soroush), Smith, A. (Alberto), Thompson, M.J. (Matthew), Bockxmeer, F.M. (Frank) van, Waltham, M. (Matthew), Matthiasson, S.E. (Stefan), Thorleifsson, G. (Gudmar), Thorsteinsdottir, U. (Unnur), Blankensteijn, J.D. (Jan), Teijink, J.A.W. (Joep), Wijmenga, C. (Cisca), Graaf, J. (Jacqueline) de, Kiemeney, L.A.L.M. (Bart), Assimes, T.L. (Themistocles), McPherson, R. (Ruth), Folkersen, L. (Lasse), Franco-Cereceda, A. (Anders), Palmen, J. (Jutta), Smith, A.J. (Andrew), Sylvius, N. (Nicolas), Wild, J.B. (John), Refstrup, M. (Mette), Edkins, S. (Sarah), Gwilliam, R. (Rhian), Hunt, S.E. (Sarah), Potter, S.C. (Simon), Lindholt, J.S. (Jes), Frikke-Schmidt, R. (Ruth), Tybjaerg-Hansen, A. (Anne), Hughes, A.E. (Anne), Golledge, J. (Jonathan), Norman, P.E. (Paul), Rij, A.M. (Andre) van, Powell, J.T. (Janet), Eriksson, P. (Per), Stefansson, K. (Kari), Thompson, J.R. (John), Humphries, S.E. (Steve), Sayers, R.E. (Robert), Deloukas, P. (Panos), and Samani, N.J. (Nilesh)
Published: 2011
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15. RANTES/CCL5 and risk for coronary events: Results from the MONICA/KORA Augsburg case-cohort, Athero-express and CARDIoGRAM studies

Author: Kathiresan, S. (Sekar), Reilly, M.P. (Muredach), Samani, N.J. (Nilesh), Schunkert, H. (Heribert), Erdmann, J. (Jeanette), Moll, F.L. (Frans), Boerwinkle, E.A. (Eric), Hall, A. (Anne), Hengstenberg, C. (Christian), König, I.R. (Inke), Laaksonen, R. (Reijo), McPherson, R. (Ruth), Thompson, J.R. (John), Thorsteinsdottir, U. (Unnur), Ziegler, A. (Andreas), Koenig, W. (Wolfgang), Chen, L. (Li), Cupples, L.A. (Adrienne), Halperin, E. (Eran), Musunuru, K. (Kiran), Preuss, M. (Michael), Schillert, A. (Arne), Thorleifsson, G. (Gudmar), Voight, B.F. (Benjamin), Wells, G.A. (George), Deloukas, P. (Panagiotis), Holm, H. (Hilma), Roberts, R. (Robert), Stewart, A.F.R. (Alexandre), Fortmann, S.P. (Stephen), Go, A.T.J.I. (Attie), Hlatky, M.A. (Mark), Iribarren, C. (Carlos), Knowles, J.W. (Joshua), Myers, R.H. (Richard), Quertermous, T. (Thomas), Sidney, S. (Steven), Risch, N., Tang, H. (Hui), Blankenberg, S. (Stefan), Zeller, T. (Tanja), Wild, P.S. (Philipp), Schnabel, R.B. (Renate), Sinning, C. (Christoph), Lackner, K.J. (Karl), Tiret, L. (Laurence), Nicaud, V., Cambien, F. (François), Bickel, H. (Horst), Rupprecht, H.J., Perret, C. (Claire), Proust, C. (Carole), Munzel, T. (Thomas), Barbalic, M. (maja), Bis, J.C. (Joshua), Chen, I.Y.-D. (Ida Yii-Der), Dehghan, A. (Abbas), Demissie-Banjaw, S. (Serkalem), Folsom, A.R. (Aaron), Glazer, N.L. (Nicole), Gudnason, V. (Vilmundur), Harris, T.B. (Tamara), Heckbert, S.R. (Susan), Levy, D. (Daniel), Lumley, T. (Thomas), Marciante, K. (Kristin), Morrison, A.C. (Alanna), O'Donnell, C.J. (Christopher), Psaty, B.M. (Bruce), Rice, K. (Kenneth), Rotter, J.I. (Jerome), Siscovick, D.S. (David), Smith, N.L. (Nicholas), Smith, A.V. (Davey), Taylor, K.D. (Kent), Duijn, C.M. (Cornelia) van, Volcik, K.A. (Kelly), Whitteman, J. (Jaqueline), Ramachandran, V.S. (Vasan), Hofman, A. (Albert), Uitterlinden, A.G. (André), Gretarsdottir, S. (Solveig), Gulcher, J.R. (Jeffrey), Kong, A. (Augustine), Zwart, J-A. (John-Anker), Thorgeirsson, G. (Gudmundur), Andersen, K.K. (Karl), Fischer, M. (Marcus), Großhennig, A. (Anika), Lieb, W. (Wolfgang), Linsel-Nitschke, P. (Patrick), Stark, K. (Klaus), Schreiber, S. (Stefan), Wichmann, H.E. (Heinz Erich), Aherrahrou, Z. (Zouhair), Bruse, P. (Petra), Doering, A. (Angela), Illig, T. (Thomas), Klopp, N. (Norman), Loley, C. (Christina), Medack, A. (Anja), Meisinger, C. (Christa), Meitinger, T. (Thomas), Nahrstedt, J. (Janja), Peters, A. (Annette), Wagner, A.K. (Arnika), Willenborg, C. (Christina), Böhm, B., Dobnig, H. (Harald), Grammer, T.B. (Tanja), Hoffmann, M.M. (Michael), Kleber, M. (Martina), März, W. (Winfried), Meinitzer, A. (Andreas), Winkelmann, B., Pilz, D.T. (Daniela), Renner, W. (Wilfried), Scharnagl, H. (Hubert), Stojakovic, T. (Tatjana), Tomaschitz, A. (Andreas), Winkler, K. (Karl), Guiducci, C. (Candace), Burtt, N.P. (Noël), Gabriel, S.B. (Stacey), Elosua, R. (Roberto), Peltonen, L. (Leena Johanna), Salomaa, V. (Veikko), Schwartz, S.M. (Stephen), Melander, O. (Olle), Altshuler, D. (David), Dandona, S. (Sonny), Jarinova, O. (Olga), Qu, L. (Liming), Wilensky, A. (Asaf), Matthai, W. (William), Hakonarson, H. (Hakon), Devaney, J. (Joseph), Burnett, M.S., Pichard, A.D., Kent, K.M. (Kenneth), Satler, L.F., Lindsay, J.M. (Joseph), Waksman, R. (Ron), Knouff, C.W. (Christopher), Waterworth, D. (Dawn), Walker, M.C. (Max), Mooser, V. (Vincent), Epstein, S.E. (Stephen), Rader, D.J. (Daniel), Braund, P.S. (Peter), Nelson, C.P. (Christopher P.), Li, M. (Mingyao), Wright, B.J. (Benjamin), Balmforth, A.J. (Anthony), Ball, S.G. (Stephen), Kathiresan, S. (Sekar), Reilly, M.P. (Muredach), Samani, N.J. (Nilesh), Schunkert, H. (Heribert), Erdmann, J. (Jeanette), Moll, F.L. (Frans), Boerwinkle, E.A. (Eric), Hall, A. (Anne), Hengstenberg, C. (Christian), König, I.R. (Inke), Laaksonen, R. (Reijo), McPherson, R. (Ruth), Thompson, J.R. (John), Thorsteinsdottir, U. (Unnur), Ziegler, A. (Andreas), Koenig, W. (Wolfgang), Chen, L. (Li), Cupples, L.A. (Adrienne), Halperin, E. (Eran), Musunuru, K. (Kiran), Preuss, M. (Michael), Schillert, A. (Arne), Thorleifsson, G. (Gudmar), Voight, B.F. (Benjamin), Wells, G.A. (George), Deloukas, P. (Panagiotis), Holm, H. (Hilma), Roberts, R. (Robert), Stewart, A.F.R. (Alexandre), Fortmann, S.P. (Stephen), Go, A.T.J.I. (Attie), Hlatky, M.A. (Mark), Iribarren, C. (Carlos), Knowles, J.W. (Joshua), Myers, R.H. (Richard), Quertermous, T. (Thomas), Sidney, S. (Steven), Risch, N., Tang, H. (Hui), Blankenberg, S. (Stefan), Zeller, T. (Tanja), Wild, P.S. (Philipp), Schnabel, R.B. (Renate), Sinning, C. (Christoph), Lackner, K.J. (Karl), Tiret, L. (Laurence), Nicaud, V., Cambien, F. (François), Bickel, H. (Horst), Rupprecht, H.J., Perret, C. (Claire), Proust, C. (Carole), Munzel, T. (Thomas), Barbalic, M. (maja), Bis, J.C. (Joshua), Chen, I.Y.-D. (Ida Yii-Der), Dehghan, A. (Abbas), Demissie-Banjaw, S. (Serkalem), Folsom, A.R. (Aaron), Glazer, N.L. (Nicole), Gudnason, V. (Vilmundur), Harris, T.B. (Tamara), Heckbert, S.R. (Susan), Levy, D. (Daniel), Lumley, T. (Thomas), Marciante, K. (Kristin), Morrison, A.C. (Alanna), O'Donnell, C.J. (Christopher), Psaty, B.M. (Bruce), Rice, K. (Kenneth), Rotter, J.I. (Jerome), Siscovick, D.S. (David), Smith, N.L. (Nicholas), Smith, A.V. (Davey), Taylor, K.D. (Kent), Duijn, C.M. (Cornelia) van, Volcik, K.A. (Kelly), Whitteman, J. (Jaqueline), Ramachandran, V.S. (Vasan), Hofman, A. (Albert), Uitterlinden, A.G. (André), Gretarsdottir, S. (Solveig), Gulcher, J.R. (Jeffrey), Kong, A. (Augustine), Zwart, J-A. (John-Anker), Thorgeirsson, G. (Gudmundur), Andersen, K.K. (Karl), Fischer, M. (Marcus), Großhennig, A. (Anika), Lieb, W. (Wolfgang), Linsel-Nitschke, P. (Patrick), Stark, K. (Klaus), Schreiber, S. (Stefan), Wichmann, H.E. (Heinz Erich), Aherrahrou, Z. (Zouhair), Bruse, P. (Petra), Doering, A. (Angela), Illig, T. (Thomas), Klopp, N. (Norman), Loley, C. (Christina), Medack, A. (Anja), Meisinger, C. (Christa), Meitinger, T. (Thomas), Nahrstedt, J. (Janja), Peters, A. (Annette), Wagner, A.K. (Arnika), Willenborg, C. (Christina), Böhm, B., Dobnig, H. (Harald), Grammer, T.B. (Tanja), Hoffmann, M.M. (Michael), Kleber, M. (Martina), März, W. (Winfried), Meinitzer, A. (Andreas), Winkelmann, B., Pilz, D.T. (Daniela), Renner, W. (Wilfried), Scharnagl, H. (Hubert), Stojakovic, T. (Tatjana), Tomaschitz, A. (Andreas), Winkler, K. (Karl), Guiducci, C. (Candace), Burtt, N.P. (Noël), Gabriel, S.B. (Stacey), Elosua, R. (Roberto), Peltonen, L. (Leena Johanna), Salomaa, V. (Veikko), Schwartz, S.M. (Stephen), Melander, O. (Olle), Altshuler, D. (David), Dandona, S. (Sonny), Jarinova, O. (Olga), Qu, L. (Liming), Wilensky, A. (Asaf), Matthai, W. (William), Hakonarson, H. (Hakon), Devaney, J. (Joseph), Burnett, M.S., Pichard, A.D., Kent, K.M. (Kenneth), Satler, L.F., Lindsay, J.M. (Joseph), Waksman, R. (Ron), Knouff, C.W. (Christopher), Waterworth, D. (Dawn), Walker, M.C. (Max), Mooser, V. (Vincent), Epstein, S.E. (Stephen), Rader, D.J. (Daniel), Braund, P.S. (Peter), Nelson, C.P. (Christopher P.), Li, M. (Mingyao), Wright, B.J. (Benjamin), Balmforth, A.J. (Anthony), and Ball, S.G. (Stephen)
Abstract: Background: The chemokine RANTES (regulated on activation, normal T-cell expressed and secreted)/CCL5 is involved in the pathogenesis of cardiovascular disease in mice, whereas less is known in humans. We hypothesised that its relevance for atherosclerosis should be reflected by associations between CCL5 gene variants, RANTES serum concentrations and protein levels in atherosclerotic plaques and risk for coronary events. Methods and Findings: We conducted a case-cohort study within the population-based MONICA/KORA Augsburg studies. Baseline RANTES serum levels were measured in 363 individuals with incident coronary events and 1,908 non-cases (mean follow-up: 10.2±4
Published: 2011
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16. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

Author: Schunkert, H. (Heribert), König, I.R. (Inke), Kathiresan, S. (Sekar), Reilly, M.P. (Muredach), Assimes, T.L. (Themistocles), Holm, H. (Hilma), Preuss, M. (Michael), Stewart, A.F.R. (Alexandre), Barbalic, M. (maja), Gieger, C. (Christian), Absher, D. (Devin), Aherrahrou, Z. (Zouhair), Allayee, H. (Hooman), Altshuler, D. (David), Anand, S.S. (Sonia), Andersen, K.K. (Karl), Anderson, J.L. (Jeffrey), Ardissino, D. (Diego), Ball, S.G. (Stephen), Balmforth, A.J. (Anthony), Barnes, T.A. (Timothy), Becker, D.M. (Diane), Berger, K. (Klaus), Bis, J.C. (Joshua), Boekholdt, S.M. (Matthijs), Boerwinkle, E.A. (Eric), Braund, P.S. (Peter), Brown, M.J. (Morris), Burnett, M.S., Buysschaert, I. (Ian), Carlquist, J.F. (John), Chen, L. (Li), Cichon, S. (Sven), Codd, V. (Veryan), Davies, R.W. (Robert), Dedoussis, G.V. (George), Dehghan, A. (Abbas), Demissie, S. (Serkalem), Devaney, J. (Joseph), Diemert, P. (Patrick), Do, R. (Ron), Doering, A. (Angela), Eifert, S. (Sandra), Mokhtari, N.E.E., Ellis, S.G. (Stephen), Elosua, R. (Roberto), Engert, J.C. (James), Epstein, S.E. (Stephen), Faire, U. (Ulf) de, Fischer, M. (Marcus), Folsom, A.R. (Aaron), Freyer, J. (Jennifer), Gigante, B. (Bruna), Girelli, D. (Domenico), Gretarsdottir, S. (Solveig), Gudnason, V. (Vilmundur), Gulcher, J.R. (Jeffrey), Halperin, E. (Eran), Hammond, N. (Naomi), Hazen, S.L. (Stanley), Hofman, A. (Albert), Horne, B.D. (Benjamin), Illig, T. (Thomas), Iribarren, C. (Carlos), Jones, G.T. (Gregory), Jukema, J.W. (Jan Wouter), Kaiser, M.A. (Michael), Kaplan, R.C. (Robert), Khaw, K-T. (Kay-Tee), Knowles, J.W. (Joshua), Kolovou, G. (Genovefa), Kong, A. (Augustine), Laaksonen, R. (Reijo), Lambrechts, D. (Diether), Leander, K. (Karin), Lettre, G. (Guillaume), Lieb, W. (Wolfgang), Loley, C. (Christina), Lotery, A.J. (Andrew), Mannucci, P.M. (Pier), Maouche, S. (Seraya), Martinelli, N. (Nicola), McKeown, P.P. (Pascal), Meisinger, C. (Christa), Meitinger, T. (Thomas), Melander, O. (Olle), Merlini, P.A., Mooser, V. (Vincent), Morgan, T. (Thomas), Mühleisen, T.W. (Thomas), Muhlestein, J.B. (Joseph), Münzel, T. (Thomas), Musunuru, K. (Kiran), Nahrstaedt, J. (Janja), Nelson, C.P. (Christopher P.), Nöthen, M.M. (Markus), Olivieri, O. (Oliviero), Patel, R.S. (Riyaz), Patterson, C.C. (Chris), Peters, A. (Annette), Peyvandi, F. (Flora), Qu, L. (Liming), Quyyumi, A.A. (Arshed), Rader, D.J. (Daniel), Rallidis, L.S. (Loukianos), Rice, C. (Catherine), Rosendaal, F.R. (Frits), Rubin, D. (Diana), Salomaa, V. (Veikko), Sampietro, M.L. (Maria Lourdes), Sandhu, M.S. (Manj), Schadt, E.E. (Eric), Schillert, A. (Arne), Schreiber, S. (Stefan), Schrezenmeir, J. (Jürgen), Schwartz, S.M. (Stephen), Siscovick, D.S. (David), Sivananthan, M. (Mohan), Sivapalaratnam, S. (Suthesh), Smith, A.V. (Albert Vernon), Snoep, J.D. (Jaapjan), Soranzo, N. (Nicole), Spertus, J.A. (John), Stark, K. (Klaus), Stirrups, K. (Kathy), Stoll, M. (Monika), Tang, W.H.W. (Wilson), Tennstedt, S. (Stephanie), Thorgeirsson, G. (Gudmundur), Thorleifsson, G. (Gudmar), Tomaszewski, M. (Maciej), Uitterlinden, A.G. (André), Rij, A.M. (Andre) van, Voight, B.F. (Benjamin), Wareham, N.J. (Nick), Wells, G.A. (George), Wichmann, H.E. (Heinz Erich), Wild, P.S. (Philipp), Willenborg, C. (Christina), Witteman, J.C.M. (Jacqueline), Wright, B.J. (Benjamin), Ye, S. (Shu), Zeller, T. (Tanja), Ziegler, A. (Andreas), Cambien, F. (François), Goodall, A.H. (Alison), Cupples, L.A. (Adrienne), Quertermous, T. (Thomas), Mäsignrz, W. (Winfried), Hengstenberg, C. (Christian), Blankenberg, S. (Stefan), Ouwehand, W.H. (Willem), Hall, A.S. (Alistair), Kastelein, J.J.P. (John), Deloukas, P. (Panagiotis), Thompson, J.R. (John), Stefansson, K. (Kari), Roberts, R. (Robert), Li, M. (Mingyao), Thorsteinsdottir, U. (Unnur), O'Donnell, C.J. (Christopher), McPherson, R. (Ruth), Erdmann, J. (Jeanette), Samani, N.J. (Nilesh), Schäffer, A. (Arne), Schunkert, H. (Heribert), König, I.R. (Inke), Kathiresan, S. (Sekar), Reilly, M.P. (Muredach), Assimes, T.L. (Themistocles), Holm, H. (Hilma), Preuss, M. (Michael), Stewart, A.F.R. (Alexandre), Barbalic, M. (maja), Gieger, C. (Christian), Absher, D. (Devin), Aherrahrou, Z. (Zouhair), Allayee, H. (Hooman), Altshuler, D. (David), Anand, S.S. (Sonia), Andersen, K.K. (Karl), Anderson, J.L. (Jeffrey), Ardissino, D. (Diego), Ball, S.G. (Stephen), Balmforth, A.J. (Anthony), Barnes, T.A. (Timothy), Becker, D.M. (Diane), Berger, K. (Klaus), Bis, J.C. (Joshua), Boekholdt, S.M. (Matthijs), Boerwinkle, E.A. (Eric), Braund, P.S. (Peter), Brown, M.J. (Morris), Burnett, M.S., Buysschaert, I. (Ian), Carlquist, J.F. (John), Chen, L. (Li), Cichon, S. (Sven), Codd, V. (Veryan), Davies, R.W. (Robert), Dedoussis, G.V. (George), Dehghan, A. (Abbas), Demissie, S. (Serkalem), Devaney, J. (Joseph), Diemert, P. (Patrick), Do, R. (Ron), Doering, A. (Angela), Eifert, S. (Sandra), Mokhtari, N.E.E., Ellis, S.G. (Stephen), Elosua, R. (Roberto), Engert, J.C. (James), Epstein, S.E. (Stephen), Faire, U. (Ulf) de, Fischer, M. (Marcus), Folsom, A.R. (Aaron), Freyer, J. (Jennifer), Gigante, B. (Bruna), Girelli, D. (Domenico), Gretarsdottir, S. (Solveig), Gudnason, V. (Vilmundur), Gulcher, J.R. (Jeffrey), Halperin, E. (Eran), Hammond, N. (Naomi), Hazen, S.L. (Stanley), Hofman, A. (Albert), Horne, B.D. (Benjamin), Illig, T. (Thomas), Iribarren, C. (Carlos), Jones, G.T. (Gregory), Jukema, J.W. (Jan Wouter), Kaiser, M.A. (Michael), Kaplan, R.C. (Robert), Khaw, K-T. (Kay-Tee), Knowles, J.W. (Joshua), Kolovou, G. (Genovefa), Kong, A. (Augustine), Laaksonen, R. (Reijo), Lambrechts, D. (Diether), Leander, K. (Karin), Lettre, G. (Guillaume), Lieb, W. (Wolfgang), Loley, C. (Christina), Lotery, A.J. (Andrew), Mannucci, P.M. (Pier), Maouche, S. (Seraya), Martinelli, N. (Nicola), McKeown, P.P. (Pascal), Meisinger, C. (Christa), Meitinger, T. (Thomas), Melander, O. (Olle), Merlini, P.A., Mooser, V. (Vincent), Morgan, T. (Thomas), Mühleisen, T.W. (Thomas), Muhlestein, J.B. (Joseph), Münzel, T. (Thomas), Musunuru, K. (Kiran), Nahrstaedt, J. (Janja), Nelson, C.P. (Christopher P.), Nöthen, M.M. (Markus), Olivieri, O. (Oliviero), Patel, R.S. (Riyaz), Patterson, C.C. (Chris), Peters, A. (Annette), Peyvandi, F. (Flora), Qu, L. (Liming), Quyyumi, A.A. (Arshed), Rader, D.J. (Daniel), Rallidis, L.S. (Loukianos), Rice, C. (Catherine), Rosendaal, F.R. (Frits), Rubin, D. (Diana), Salomaa, V. (Veikko), Sampietro, M.L. (Maria Lourdes), Sandhu, M.S. (Manj), Schadt, E.E. (Eric), Schillert, A. (Arne), Schreiber, S. (Stefan), Schrezenmeir, J. (Jürgen), Schwartz, S.M. (Stephen), Siscovick, D.S. (David), Sivananthan, M. (Mohan), Sivapalaratnam, S. (Suthesh), Smith, A.V. (Albert Vernon), Snoep, J.D. (Jaapjan), Soranzo, N. (Nicole), Spertus, J.A. (John), Stark, K. (Klaus), Stirrups, K. (Kathy), Stoll, M. (Monika), Tang, W.H.W. (Wilson), Tennstedt, S. (Stephanie), Thorgeirsson, G. (Gudmundur), Thorleifsson, G. (Gudmar), Tomaszewski, M. (Maciej), Uitterlinden, A.G. (André), Rij, A.M. (Andre) van, Voight, B.F. (Benjamin), Wareham, N.J. (Nick), Wells, G.A. (George), Wichmann, H.E. (Heinz Erich), Wild, P.S. (Philipp), Willenborg, C. (Christina), Witteman, J.C.M. (Jacqueline), Wright, B.J. (Benjamin), Ye, S. (Shu), Zeller, T. (Tanja), Ziegler, A. (Andreas), Cambien, F. (François), Goodall, A.H. (Alison), Cupples, L.A. (Adrienne), Quertermous, T. (Thomas), Mäsignrz, W. (Winfried), Hengstenberg, C. (Christian), Blankenberg, S. (Stefan), Ouwehand, W.H. (Willem), Hall, A.S. (Alistair), Kastelein, J.J.P. (John), Deloukas, P. (Panagiotis), Thompson, J.R. (John), Stefansson, K. (Kari), Roberts, R. (Robert), Li, M. (Mingyao), Thorsteinsdottir, U. (Unnur), O'Donnell, C.J. (Christopher), McPherson, R. (Ruth), Erdmann, J. (Jeanette), Samani, N.J. (Nilesh), and Schäffer, A. (Arne)
Abstract: We performed a meta-analysis of 14 genome-wide association studies of coronary artery disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of European descent followed by genotyping of top association signals in 56,682 additional individuals. This analysis identified 13 loci newly associated with CAD at P < 5 - 10'8 and confirmed the association of 10 of 12 previously reported CAD loci. The 13 new loci showed risk allele frequencies ranging from 0.13 to 0.91 and were associated with a 6% to 17% increase in the risk of CAD per allele. Notably, only three of the new loci showed significant association with traditional CAD risk factors and the majority lie in gene regions not previously implicated in the pathogenesis of CAD. Finally, five of the new CAD risk loci appear to have pleiotropic effects, showing strong association with various other human diseases or traits.
Published: 2011
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16 results on '"Wright, B.J."'

1. A Global Declaration on Appropriate Use of Antimicrobial Agents across the Surgical Pathway

2. Erratum: Antimicrobials: A global alliance for optimizing their rational use in intra-abdominal infections (AGORA). [World J Emerg Surg. 11, (2016) (33)] DOI: 10.1186/s13017-016-0089-y

3. Antimicrobials: a global alliance for optimizing their rational use in intra-abdominal infections (AGORA)

4. Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

5. Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

6. The Oregon experiment--effects of Medicaid on clinical outcomes

7. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

8. Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes

9. A variant in LDLR is associated with abdominal aortic aneurysm

10. A common biological basis of obesity and nicotine addiction

11. Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1

12. Large-scale gene-centric analysis identifies novel variants for coronary artery disease

13. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

14. Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1

15. RANTES/CCL5 and risk for coronary events: Results from the MONICA/KORA Augsburg case-cohort, Athero-express and CARDIoGRAM studies

16. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

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16 results on '"Wright, B.J."'

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