Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease

Autor: Zanoni, P., Khetarpal, S. A., Larach, D. B., Hancock-Cerutti, W. F., Millar, J. S., Cuchel, M., DerOhannessian, S., Kontush, A., Surendran, P., Saleheen, D., Trompet, S., Cooper, R. S., Chowdhury, R., Dedoussis, G., de Faire, U., Feranil, A. B., Sheu, W. H.- H., Ferrucci, L., Freimer, N. B., Gieger, C., Sengupta, S., Grallert, H., Groop, L. C., Gudnason, V., Tanaka, T., Gyllensten, U., Hamsten, A., Erdmann, J., Harris, T. B., Shuldiner, A. R., Hingorani, A., Hirschhorn, J. N., Gravito, M. L., Wilson, J. F., Hofman, A., Hovingh, G. K., Hsiung, C. A., Humphries, S. E., Teslovich, T. M., Hunt, S. C., Hveem, K., Iribarren, C., Siegbahn, A., Groves, C. J., Nordestgaard, B. G., Njolstad, I., Jarvelin, M.-R., Jula, A., Kahonen, M., Kaprio, J., Kesaniemi, A., Kivimaki, M., Thorleifsson, G., Kooner, J. S., Hallmans, G., Koudstaal, P. J., Kuulasmaa, K., Gustafsson, S., Krauss, R. M., Kuh, D., Nielsen, S. F., Kuusisto, J., Kyvik, K. O., Laakso, M., Lakka, T. A., Hartikainen, A.-L., Lind, L., Van den Herik, E. G., Lindgren, C. M., Kanoni, S., Spector, T. D., Martin, N. G., Marz, W., McCarthy, M. I., McKenzie, C. A., Tybjaerg-Hansen, A., Assimes, T. L., Meneton, P., Metspalu, A., Moilanen, L., Morris, A. D., Ganna, A., Voight, B. F., Stefansson, K., Munroe, P. B., van Pelt, L. J., Waite, L. L., Hayward, C., Strachan, D. P., Tayo, B. O., Tremoli, E., Tuomilehto, J., Uusitupa, M., Chen, J., van Duijn, C. M., Vollenweider, P., Wallentin, L., Liu, D. J., Hernandez, D., Vedantam, S., Wareham, N. J., Jukema, J. W., Whitfield, J. B., Wolffenbuttel, B. H. R., Ordovas, J. M., Buchkovich, M. L., Boerwinkle, E., Palmer, C. N. A., Thorsteinsdottir, U., Hicks, A. A., Chasman, D. I., Rotter, J. I., Wainwright, N., Franks, P. W., Perola, M., Wong, A., Riatti, S., Mora, S., Cupples, L. A., Sandhu, M. S., Rauramaa, R., Rich, S. S., Boehnke, M., Deloukas, P., Mohlke, K. L., Wijmenga, C., Ingelsson, E., Gu, D., Roberts, R., Beckmann, J. S., Wu, Y., Peloso, G. M., Blankenberg, S., Watkins, H., Clarke, R., Collins, R., Kim, B.-J., Wild, S. H., McPherson, R., Nieminen, M. S., Barroso, I., Holm, H., O'Donnell, C., Schreiber, S., Zhang, W., Salomaa, V., Zalloua, P. A., Mannisto, S., Amouyel, P., Willemsen, G., Arveiler, D., Hung, Y.-J., Bragg-Gresham, J. L., Ferrieres, J., Muller-Nurasyid, M., Ferrario, M., Kee, F., Absher, D., Willer, C. J., Samani, N., Schunkert, H., Butterworth, A. S., Sattar, N., Wilsgaard, T., Chang, H.-Y., Howson, J. M. M., Pedersen, N. L., Di Angelantonio, E., Demirkan, A., Den Hertog, H. M., Do, R., Donnelly, L. A., Ehret, G. B., Illig, T., Esko, T., Feitosa, M. F., Ferreira, T., Been, L. F., Power, C., Fischer, K., Song, C., Fontanillas, P., Fraser, R. M., Freitag, D. F., Jones, M. R., Gurdasani, D., Heikkila, K., Hypponen, E., Isaacs, A., Jackson, A. U., Pramstaller, P. P., Johansson, A., Bolton, J. L., Young, E. H., Johnson, T., Kaleebu, P., Kaakinen, M., Kettunen, J., Kleber, M. E., Li, X., Luan, J., Lyytikainen, L.-P., Price, J. F., Magnusson, P. K. E., Mangino, M., Mihailov, E., Kastelein, J. J. P., Zhao, J. H., Bonnycastle, L. L., Montasser, M. E., Nolte, I. M., OConnell, J. R., Palmer, C. D., Petersen, A.-K., Schmidt, R. F., Sanna, S., Saxena, R., Bandinelli, S., Service, S. K., Shah, S., Adair, L. S., Shungin, D., Brambilla, P., Sidore, C., De Craen, A., Burnett, M. S., Psaty, B. M., Cesana, G., Khaw, K.-T., Dimitriou, M., Doney, A. S. F., Doring, A., Elliott, P., Epstein, S. E., Eyjolfsson, G. I., Gigante, B., Goodarzi, M. O., Quertermous, T., Kim, E., Stitziel, N. O., Volcik, K. A., Klopp, N., Komulainen, P., Kumari, M., Langenberg, C., Ford, I., Lehtimaki, T., Lin, S.-Y., Lindstrom, J., Bennett, F., Danesh, J., Loos, R. J. F., Uitterlinden, A. G., Mach, F., McArdle, W. L., Meisinger, C., Mitchell, B. D., Muller, G., Nagaraja, R., Packard, C., Narisu, N., Kathiresan, S., Nieminen, T. V. M., Bochud, M., Nsubuga, R. N., Olafsson, I., Ong, K. K., Palotie, A., Papamarkou, T., Pomilla, C., Pouta, A., Rader, D. J., Reilly, M. P., Majumder, A. a. S., Ridker, P. M., Sanghera, D. K., Boehm, B. O., Rivadeneira, F., Rudan, I., Ruokonen, A., Scharnagl, H., Seeley, J., Asiki, G., Silander, K., Stancakova, A., Stirrups, K., Swift, A. J., Saramies, J., Alam, D. S., Boomsma, D. I., Tiret, L., Strawbridge, R. J., Abecasis, G., Watson, S., Borecki, I. B., Bornstein, S. R., Bovet, P., Burnier, M., Campbell, H., Schwarz, P. E. H., Chakravarti, A., Chambers, J. C., Chen, Y.-D. I., Collins, F. S., Schmidt, E. M., Surakka, I.

Scavenger receptor BI (SR-BI) is the major receptor for high-density lipoprotein (HDL) cholesterol (HDL-C). In humans, high amounts of HDL-C in plasma are associated with a lower risk of coronary heart disease (CHD). Mice that have depleted Scarb1 (S

Externí odkaz: http://hdl.handle.net/10150/623258
http://arizona.openrepository.com/arizona/handle/10150/623258

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

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