Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

Autor: Surendran, P., Feofanova, E. V., Lahrouchi, N., Ntalla, I., Karthikeyan, S., Cook, J., Chen, L., Mifsud, B., Yao, C., Kraja, A. T., Cartwright, J. H., Hellwege, J. N., Giri, A., Tragante, V., Thorleifsson, G., Liu, D. J., Prins, B. P., Stewart, I. D., Cabrera, C. P., Eales, J. M., Akbarov, A., Auer, P. L., Bielak, L. F., Bis, J. C., Braithwaite, V. S., Brody, J. A., Daw, E. W., Warren, H. R., Drenos, F., Nielsen, S. F., Faul, J. D., Fauman, E. B., Fava, C., Ferreira, T., Foley, C. N., Franceschini, N., Gao, H., Giannakopoulou, O., Giulianini, F., Gudbjartsson, D. F., Guo, X., Harris, S. E., Havulinna, A. S., Helgadottir, A., Huffman, J. E., Hwang, S. -J., Kanoni, S., Kontto, J., Larson, M. G., Li-Gao, R., Lindstrom, J., Lotta, L. A., Lu, Y., Luan, J., Mahajan, A., Malerba, G., Masca, N. G. D., Mei, H., Menni, C., Mook-Kanamori, D. O., Mosen-Ansorena, D., Muller-Nurasyid, M., Pare, G., Paul, D. S., Perola, M., Poveda, A., Rauramaa, R., Richard, M., Richardson, T. G., Sepulveda, N., Sim, X., Smith, A. V., Smith, J. A., Staley, J. R., Stanakova, A., Sulem, P., Theriault, S., Thorsteinsdottir, U., Trompet, S., Varga, T. V., Velez Edwards, D. R., Veronesi, G., Weiss, S., Willems, S. M., Yao, J., Young, R., Yu, B., Zhang, W., Zhao, J. -H., Zhao, W., Evangelou, E., Aeschbacher, S., Asllanaj, E., Blankenberg, S., Bonnycastle, L. L., Bork-Jensen, J., Brandslund, I., Braund, P. S., Burgess, S., Cho, K., Christensen, C., Connell, J., Mutsert, R., Dominiczak, A. F., Dorr, M., Eiriksdottir, G., Farmaki, A. -E., Gaziano, J. M., Grarup, N., Grove, M. L., Hallmans, G., Hansen, T., Have, C. T., Heiss, G., Jorgensen, M. E., Jousilahti, P., Kajantie, E., Kamat, M., Karajamaki, A. M., Karpe, F., Koistinen, H. A., Kovesdy, C. P., Kuulasmaa, K., Laatikainen, T., Lannfelt, L., Lee, I. -T., Lee, W. -J., de Boer, R. A., van der Harst, P., van der Meer, P., Verweij, N., Linneberg, A., Martin, L. W., Moitry, M., Nadkarni, G., Neville, M. J., Palmer, C. N. A., Papanicolaou, G. J., Pedersen, O., Peters, J., Poulter, N., Rasheed, A., Rasmussen, K. L., Rayner, N. W., Magi, R., Renstrom, F., Rettig, R., Rossouw, J., Schreiner, P. J., Sever, P. S., Sigurdsson, E. L., Skaaby, T., Sun, Y. V., Sundstrom, J., Thorgeirsson, G., Esko, T., Trabetti, E., Tsao, P. S., Tuomi, T., Turner, S. T., Tzoulaki, I., Vaartjes, I., Vergnaud, A. -C., Willer, C. J., Wilson, P. W. F., Witte, D. R., Yonova-Doing, E., Zhang, H., Aliya, N., Almgren, P., Amouyel, P., Asselbergs, F. W., Barnes, M. R., Blakemore, A. I., Boehnke, M., Bots, M. L., Bottinger, E. P., Buring, J. E., Chambers, J. C., Chen, Y. -D. I., Chowdhury, R., Conen, D., Correa, A., Davey Smith, G., Boer, R. A., Deary, I. J., Dedoussis, G., Deloukas, P., Di Angelantonio, E., Elliott, P., Butterworth, A. S., Danesh, J., Langenberg, C., Mccarthy, M. I., Franks, P. W., Rolandsson, O., Wareham, N. J., Felix, S. B., Ferrieres, J., Ford, I., Fornage, M., Franks, S., Frossard, P., Gambaro, G., Gaunt, T. R., Groop, L., Gudnason, V., Harris, T. B., Hayward, C., Hennig, B. J., Herzig, K. -H., Ingelsson, E., Tuomilehto, J., Jarvelin, M. -R., Jukema, J. W., Kardia, S. L. R., Kee, F., Kooner, J. S., Kooperberg, C., Launer, L. J., Lind, L., Loos, R. J. F., Majumder, A. S., Laakso, M., Melander, O., Mohlke, K. L., Murray, A. D., Nordestgaard, B. G., Orho-Melander, M., Packard, C. J., Padmanabhan, S., Palmas, W., Polasek, O., Porteous, D. J., Prentice, A. M., Province, M. A., Relton, C. L., Rice, K., Ridker, P. M., Rosendaal, F. R., Rotter, J. I., Rudan, I., Salomaa, V., Samani, N. J., Sattar, N., Sheu, W. H. -H., Smith, B. H., Soranzo, N., Spector, T. D., Starr, J. M., Sebert, S., Taylor, K. D., Lakka, T. A., Timpson, N. J., Tobin, M. D., Zeggini, E., Ramachandran, V. S., Virtamo, J., Volker, U., Weir, D. R., Charchar, F. J., Edwards, D. R. V., Edwards, T. L., Hung, A. M., O'Donnell, C. J., Tomaszewski, M., Caulfield, M. J., Holm, H., Lindgren, C. M., Liu, C., Manning, A. K., Morris, A. P., Morrison, A. C., Psaty, B. M., Saleheen, D., Stefansson, K., Boerwinkle, E., Chasman, D. I., Levy, D., Newton-Cheh, C., Munroe, P. B., Howson, J. M. M.

Publikováno v: Nature Genetics, 52(12). NATURE RESEARCH
Surendran, P, Feofanova, E V, Lahrouchi, N, Ntalla, I, Karthikeyan, S, Cook, J, Chen, L, Mifsud, B, Yao, C, Kraja, A T, Cartwright, J H, Hellwege, J N, Giri, A, Tragante, V, Thorleifsson, G, Liu, D J, Prins, B P, Stewart, I D, Cabrera, C P, Eales, J M, Akbarov, A, Auer, P L, Bielak, L F, Bis, J C, Braithwaite, V S, Brody, J A, Daw, E W, Warren, H R, Drenos, F, Nielsen, S F, Faul, J D, Fauman, E B, Fava, C, Ferreira, T, Foley, C N, Franceschini, N, Gao, H, Giannakopoulou, O, Giulianini, F, Gudbjartsson, D F, Guo, X, Harris, S E, Grarup, N, Hansen, T, Jørgensen, M E, Pedersen, O, Rasmussen, K L, Sun, Y V, Witte, D R, Sun, Y V, Lifelines Cohort Study, EPIC-CVD, EPIC-InterAct, Understanding Society Scientific Group & Million Veteran Program 2020, ' Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals ', Nature Genetics, vol. 52, no. 12, pp. 1314-1332 . https://doi.org/10.1038/s41588-020-00713-x
Lifelines Cohort Study, EPIC-CVD (Daniel Witte, member), EPIC-InterAct (Daniel Witte, member), Understanding Society Scientific Group & Million Veteran Program 2020, ' Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals ', Nature Genetics . https://doi.org/10.1038/s41588-020-00713-x
Surendran, P, Feofanova, E V, Lahrouchi, N, Ntalla, I, Karthikeyan, S, Cook, J, Chen, L, Mifsud, B, Yao, C, Kraja, A T, Cartwright, J H, Hellwege, J N, Giri, A, Tragante, V, Thorleifsson, G, Liu, D J, Prins, B P, Stewart, I D, Cabrera, C P, Eales, J, Akbarov, A, Auer, P L, Bielak, L F, Bis, J C, Braithwaite, V S, Brody, J A, Daw, E W, Warren, H R, Drenos, F, Nielsen, S F, Faul, J D, Fauman, E, Fava, C, Ferreira, T, Foley, C N, Franceschini, N, Gao, H, Giannakopoulou, O, Giulianini, F, Gudbjartsson, D F, Guo, X, Harris, S, Havulinna, A S, Helgadottir, A, Huffman, J E, Hwang, S-J, Kanoni, S, Kontto, J, Larson, M G, Li-Gao, R, Lindström, J, Lotta, L A, Lu, Y, Luan, J, Mahajan, A, Malerba, G, Masca, N G D, Mei, H, Menni, C, Mook-Kanamori, D O, Mosen-Ansorena, D, Müller-Nurasyid, M, Paré, G, Paul, D S, Perola, M, Poveda, A, Rauramaa, R, Richard, M, Richardson, T G, Sepúlveda, N, Sim, X, Smith, A V, Smith, J A, Staley, J R, Stančáková, A, Sulem, P, Thériault, S, Thorstensdottir, U, Trompet, S, Varga, T V, Velez Edwards, D R, Veronesi, G, Weiss, S, Willems, S M, Yao, J, Young, R, Yu, B, Zhang, W, Hua Zhao, J, Zhao, W, Evangelou, E, Aeschbacher, S, Asllanaj, E, Blankenberg, S, Bonnycastle, L L, Bork-Jensen, J, Brandslund, I, Braund, P S, Burgess, S, Cho, K, Christensen, C, Connelly, J, de Mutsert, R, Dominiczak, A F, Dörr, M, Eiriksdottir, G, Farmaki, A-E, Gaziano, J M, Grarup, N, Grove-Gaona, M L, Hallmans, G, Hansen, T, Have, C T, Heiss, G, Jørgensen, M E, Jousilahti, P, Kajantie, E, Kamat, M, Käräjämäki, A, Karpe, F, Koistinen, H A, Kovesdy, C P, Kuulasmaa, K, Laatikainen, T, Lannfelt, L, Lee, I, Lee, W, Linneberg, A, Martin, L W, Moitry, M, Nadkarni, G N, Neville, M J, Palmer, C N A, Papanicolau, G J, Pederson, O, Peters, J, Poulter, N, Rasheed, A, Rasmussen, K L, William Rayner, N, Mägi, R, Renström, F, Rettig, R, Rossouw, J, Schreiner, P J, Sever, P J, Sigurdsson, E L, Skaaby, T, Sun, Y V, Sundstrom, J, Thorgeirsson, G, Esko, T, Trabetti, E, Tsao, P S, Tuomi, T, Turner, S T, Tzoulaki, I, Vaartjes, I, Vergnaud, A-C, Willer, C J, Wilson, P W F, Witte, D R, Yonova-Doing, E, Zhang, H, Naheed, A, Almgren, P, Amouyel, P, Asselbergs, F W, Barnes, M R, Blakemore, A I F, Boehnke, M, Bots, M L, Bottinger, E P, Buring, J E, Chambers, J C, Ida Chen, Y-D, Chowdry, R, Conen, D, Correa, A, Smith, G D, De Boer, R A, Deary, I, Dedoussis, G, Deloukas, P, Di Angelantonio, E, Elliot, P, Felix, S B, Ferrières, J, Ford, I, Fornage, M, Franks, P W, Franks, S, Frossard, P, Gambaro, G, Gaunt, T R, Groop, L, Gudnason, V, Harris, T B, Hayward, C, Hennig, B J, Herzig, K-H, Ingelsson, E, Tuomilehto, J, Jarvelin, M-R, Wouter Jukema, J, Kardia, S L R, Kee, F, Kooner, J S, Kooperberg, C, Lenore, L J, Lind, L, Loos, R J F, al Shafi Majumder, A, Laakso, M, McCarthy, M I, Melander, O, Mohlke, K L, Murray, A D, Nordestgaard, B G, Orho-Melander, M, Packard, C J, Padmanabhan, S, Palmas, W, Polasek, O, Porteous, D J, Prentice, A M, Province, M A, Relton, C L, Rice, K, Ridker, P M, Rolandsson, O, Rosendaal, F R, Rotter, J I, Rudan, I, Salomaa, V, Samani, N J, Sattar, N, H-H Sheu, W, Smith, B H, Soranzo, N, Spector, T D, Starr, J, Sebert, S, Taylor, K D, Lakka, T A, Timpson, N J, Tobin, M D, van der Harst, P, van der Meer, P, Ramachandran, V S, Verweij, N, Virtamo, J, Völker, U, Weir, D R, Zeggini, E, Charchar, F J, Wareham, N J, Langenberg, C, Tomaszewski, M, Butterworth, A S, Caulfield, M, Danesh, J, Edwards, T L, Holm, H, Hung, A M, Lindgren, C M, Liu, C, Manning, A K, Morris, A P, Morrison, A C, O'Donnell, C J, Psaty, B M, Saleheen, D, Stefansson, K, Boerwinkle, E, Chasman, D I, Levy, D, Newton-Cheh, C H, Munroe, P B & Howson, J M M 2020, ' Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals ', Nature Genetics . https://doi.org/10.1038/s41588-020-00713-x
Surendran, P, Feofanova, E V, Lahrouchi, N, Ntalla, I, Karthikeyan, S, Cook, J, Chen, L, Mifsud, B, Yao, C, Kraja, A T, Cartwright, J H, Hellwege, J N, Giri, A, Tragante, V, Thorleifsson, G, Liu, D J, Prins, B P, Stewart, I D, Cabrera, C P, Eales, J M, Akbarov, A, Auer, P L, Bielak, L F, Bis, J C, Braithwaite, V S, Brody, J A, Daw, E W, Warren, H R, Drenos, F, Nielsen, S F, Faul, J D, Fauman, E B, Fava, C, Ferreira, T, Foley, C N, Franceschini, N, Gao, H, Giannakopoulou, O, Giulianini, F, Gudbjartsson, D F, Guo, X, Harris, S E, Havulinna, A S, Helgadottir, A, Huffman, J E, Hwang, S J, Brandslund, I, Christensen, C, Hansen, T, Jørgensen, M E, Lifelines Cohort Study, EPIC-CVD, EPIC-InterAct, Understanding Society Scientific Group & Million Veteran Program 2020, ' Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals ', Nature Genetics, vol. 52, no. 12, pp. 1314-1332 . https://doi.org/10.1038/s41588-020-00713-x
Nature Genetics, 52(12), 1314-1332. Nature Publishing Group
NATURE GENETICS
Surendran, P, Timpson, N J, Staley, J R, Richardson, T G, Davey Smith, G, Gaunt, T R, Relton, C L, Munroe, P B & Howson, J M M 2020, ' Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals ', Nature Genetics, vol. 52 . https://doi.org/10.1038/s41588-020-00713-x
Nature genetics
Nature genetics, 52(12), 1314-1332. Nature Publishing Group

Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to ~1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (minor allele

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41be04c483fb8e8e9323cd3dfeb044d5
http://hdl.handle.net/11383/2125020

Relation of oxygen saturation to stage of diabetic retinopathy

Autor: Rehák J, Martin Sin, L. Stanakova, Irena Šínová, Chrapek O

Publikováno v: Acta Ophthalmologica. 93

SummaryAim To assess whether oxygen saturation of the retinal vessels is related to degree of diabetic retinopathy. Methods A prospective study included 114 eyes of 76 patients with diagnosed diabetes and 57 eyes of 29 non diabetic patiens. The diabe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f25870cc1024fbc9c923438db315c6a1
https://doi.org/10.1111/j.1755-3768.2015.0122

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Gene-based association study reveals a distinct female genetic signal in primary hypertension.

Autor: Zucker R; The Rachel and Selim Benin School of Computer Science and Engineering, The Hebrew University of Jerusalem, 91904, Jerusalem, Israel., Kovalerchik M; The Rachel and Selim Benin School of Computer Science and Engineering, The Hebrew University of Jerusalem, 91904, Jerusalem, Israel., Linial M; Department of Biological Chemistry, Institute of Life Sciences, The Hebrew University of Jerusalem, 91904, Jerusalem, Israel. michall@cc.huji.ac.il.

Publikováno v: Human genetics [Hum Genet] 2023 Jul; Vol. 142 (7), pp. 863-878. Date of Electronic Publication: 2023 May 03.