Associations of autozygosity with a broad range of human phenotypes

Autor: Clark, D.W., Okada, Y., Moore, K.H.S., Mason, D., Pirastu, N., Gandin, I., Mattsson, H., Barnes, C.L.K., Lin, K., Zhao, J.H., Deelan, P., Rohde, R., Schurmann, C., Guo, X., Giulianini, F., Zhang, W., Medina-Gomez, C., Karlsson, R., Bao, Y., Bartz, T.M., Baumbach, C., Biino, G., Bixley, M.J., Brumat, M., Chai, J.F., Corre, T., Cousminer, D.L., Dekker, A.M., Eccles, D.A., van Eijk, K.R., Fuchsberger, C., Gao, H., Germain, M., Gordon, S.D., de Haan, H.G., Harris, S.E., Hofer, E., Huerta-Chagoya, A., Igartua, C., Jansen, I.E., Jia, Y., Kacprowski, T., Karlsson, T., Kleber, M.E., Li, S.A., Li-Gao, R., Mahajan, A.L., Matsuda, K., Meidtner, K., Meng, W., Montasser, M.E., van der Most, P.J., Munz, M., Nutile, T., Palviainen, T., Prasad, G., Prasad, R.B., Priyanka, T.D.S., Rizzi, F., Salvi, E., Sapkota, B.R., Shriner, D., Skotte, L., Smart, M.C., Smith, A.V., van der Spek, A., Spracklen, C.N., Strawbridge, R.J., Tajuddin, S.M., Trompet, S., Turman, C., Verweij, N., Viberti, C., Wang, L., Warren, H.R., Wootton, R.E., Yanek, L.R., Yao, J., Yousri, N.A., Zhao, W., Adeyemo, A.A., Albert, M.L., Afaq, S., Aguilar-Salinas, C.A., Akiyama, M., Allison, M.A., Alver, M., Aung, T., Azizi, F., Bentley, A.R., Boeing, H., Boerwinkle, E., Borja, J.B., de Borst, G.J., Bottinger, E.P., Broer, L., Campbell, H., Chanock, S., Chee, M.L., Chen, G., Chen, Y.D.I., Chen, Z., Chiu, Y.-F., Cocca, M., Collins, F.S., Concas, M.P., Corley, J., Cugliari, G., van Dam, R.M., Damulina, A., Daneshpour, M.S., Day, F.R., Delgado, G.E., Dhana, K., Doney, A.F.S., Dorr, M., Doumatey, A.P., Dzimiri, N., Ebenesersdottir, S.S., Elliott, J., Elliott, P., Ewert, R., Felix, J.F., Fischer, K., Freedman, B.I., Girotto, G., Goel, A., Gögele, M., Goodarzi, M.O., Graff, M., Granot-Hershkovitz, E., Grodstein, F., Guarrera, S., Gudbjartsson, D.F., Guity, K., Gunnarsson, B., Guo, Y., Hagenaars, S.P., Haiman, C.A., Halevy, A., Harris, T.B., Hedayati, M., van Heel, D.a., Hirata, M., Höfer, I., Hsiung, C.A., Huang, J., Hung, Y.-J., Ikram, M.A., Jagadeesan, A., Jousilahti, P., Kamatani, Y., Kanai, M., Kerrison, N.D., Kessler, T., Khaw, K.-T., Khor, C.C., de Kleijn, D.P.V., Koh, W.-P., Kolcic, I., Kraft, P., Krämer, B.K., Kutalik, Z., Kuusisto, J., Langenberg, C., Launer, L.J., Lawlor, D.A., Lee, I.-T., Lee, W.-J., Lerch, M.M., Li, L., Liu, J., Loh, M., London, S.J., Loomis, S., Lu, Y., Luan, J., Mägi, R., Manichaikul, A.W., Manunta, P., Masson, G., Matoba, N., Mei, X.W., Meisinger, C., Meitinger, T., Mezzavilla, M., Milani, L., Millwood, I.Y., Momozawa, Y., Moore, A., Morange, P.-E., Moreno-Macias, H., Mori, T.A., Morrison, A.C., Muka, T., Murakami, Y., Murray, a.D., de Mutsert, R., Mychaleckyj, J.C., Nalls, M.A., Nauck, M., Neville, M.J., Nolte, I.M., Ong, K.K., Orozco, L., Padmanabhan, S., Palsson, G., Pankow, J.S., Pattaro, C., Pattie, A., Polasek, O., Poulter, N., Pramstaller, P.P., Quintana-Murci, L, Räikkönen, K., Ralhan, S., Rao, D.C., van Rheenen, W., Rich, S.S., Ridker, P.M., Rietveld, C.A., Robino, A., van Rooij, F.J.A., Ruggiero, D., Saba, Y., Sabanayagam, C., Sabater-Lleal, M., Sala, C.F., Salomaa, V, Sandow, K., Schmidt, H., Scott, L.J., Scott, W.R., Sedaghati-Khayat, S., Sennblad, B., van Setter, J., Sever, P.J., Sheu, W.H.-H., Shi, Y., Shrestha, S., Shukla, S.R., Sigurdsson, J.K., Sikka, T.T., Singh, J.R., Smith, B.H., Stancakova, A, Stanton, A., Starr, J.M., Stefansdottir, L., Straker, L., Sulem, P., Sveinbjornsson, G., Swertz, M.A., Taylor, A.M., Taylor, K.D., Terzikhan, N., Tham, Y.-C., Thorleifsson, G., Thorsteinsdottir, U., Tillander, A., Tracy, R.P., Tusie-Luna, T., Tzoulaki, I., Vaccargiu, S., Vangipurapu, J., Veldink, J.H., Vitart V., Völker, U., Vuoksimaa, E., Wakil, S.M., Waldenberger, M., Wander, G.S., Wang, Y.X., Wareham, N.J., Wild, S., Yajnik, C.S., Yuan, J.-M., Zeng, L., Zhang, L., Zhou, J., Amin, N., Asselbergs, F.W., Bakker, S.J.L., Becker, D.M., Lehne, B., Bennett, D.A., van den Berg, L.H., Berndt, S.I., Bharadwaj, D., Bielak, L.F., Bochud, M., Boehnke, M., Bouchard, C., Bradfield, J.P., Brody, J.A., Campbell, A., Carmi, S., Caulfield, M.J., Cesarini, D., Chambers, J.C., Chandak, G.R., Cheng, C.-Y., Ciullo, M., Cornelis, M., Cusi, D., Smith, G.D., Deary, I.J., Dorajoo, R., van Duijn, C.M., Ellinghaus, D., Erdmann, J., Eriksson, J.G., Evangelou, E, Evans, M.K., Faul, J.D., Feenstra, B., Feitosa, M., Foisy, S., Franke, A., Friedlander, Y., Gasparini, P., Gieger, C., Gonzalez, C., Goyette, P., Grant, S.F.A, Griffiths, L., Groop, L., Gudnason, V., Gyllensten, U., Hakonarson, H., Hamsten, A., van der Harst, P., Heng, C.-K., Hicks, A.A., Hochner, H., Huikuri, H., Hunt, S.C., Jaddoe, V.W.V., De Jager, P.L., Johannesson, M., Johansson, Å., Jonas, J.B., Jukema, J.W., Junttila, J., Kaprio, J., Kardia, S.L.R., Karpe, F., Kumari, M., Laakso, M., van der Laan, S.W., Lahti, J., Laudes, M., Lea, R.A., Lieb, W., Lumley, T., Martin, N.G., März, W., Matullo, G., McCarthy, M.I., Medland, S.E., Merriman, T.R., Metspalu, A., Meyer, B.F., Mohlke, K.L., Montogomery, G.W., Mook-Kanamori, D., Munroe, P.B., North, K.E., Nyholt, D.R., O’Connell, J.R., Ober, C., Oldehinkel, A.J., Palmas, W., Palmer, C., Pasterkamp, G.G., Patin, E., Pennell, C.G., Perusse, L., Peyser, P.A., Pirastu, M., Polderman, T.J.C., Porteous, D.J., Posthuma, D., Psaty, B.M., Rioux, J.D., Rivadeneira, F., Rotimi, C., Rotter, J.I., Rudan, I, Den Ruijter, H.M., Sanghera, D.K., Sattar, N., Schmidt, R., Schulze, M.B., Schunkert, H., Scott, R.A., Shuldiner, A.R., Sim, X., Small, Neil A., Smith, J.A., Sotoodehnia, N., Tai, E.-S., Teumer, A., Timpson, N.J., Toniolo, D., Tregouet, D.-A., Tuomi, T., Vollenweider, P., Wang, C.A., Weir, D.R., Whitfield, J.B., Wijmenga C., Wng, T.-Y., Wright, J., Yang, J., Yu, L., Zemel, B.S., Zonderman, A.B., Perola, M., Magnusson, P.K.E., Uitterlinden, A.G., Kooner, J.S., Chasman, D.I., Loos, R.J.F., Franceschini, N., Franke, L., Haley, C.S., Hayward, C., Walters, R.G., Perry, J.R.B., Esko, T., Helgason, A., Stefansson, K., Joshi, P.K., Kubo, M., Wilson, J.F.

Yes
In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close rela

Externí odkaz: http://hdl.handle.net/10454/18210

Genetic analyses identify widespread sex-differential participation bias

Autor: Pirastu N., Cordioli M., Nandakumar P., Mignogna G., Abdellaoui A., Hollis B., Kanai M., Rajagopal V. M., Parolo P. D. B., Baya N., Carey C. E., Karjalainen J., Als T. D., Van der Zee M. D., Day F. R., Ong K. K., Agee M., Aslibekyan S., Bell R. K., Bryc K., Clark S. K., Elson S. L., Fletez-Brant K., Fontanillas P., Furlotte N. A., Gandhi P. M., Heilbron K., Hicks B., Huber K. E., Jewett E. M., Jiang Y., Kleinman A., Lin K. -H., Litterman N. K., Luff M. K., McIntyre M. H., McManus K. F., Mountain J. L., Mozaffari S. V., Noblin E. S., Northover C. A. M., O'Connell J., Petrakovitz A. A., Pitts S. J., Poznik G. D., Sathirapongsasuti J. F., Shelton J. F., Shringarpure S., Tian C., Tung J. Y., Tunney R. J., Vacic V., Wang X., Zare A., Mortensen P. B., Mors O., Werge T., Nordentoft M., Hougaard D. M., Bybjerg-Grauholm J., Baekvad-Hansen M., Morisaki T., de Geus E., Bellocco R., Okada Y., Borglum A. D., Joshi P., Auton A., Hinds D., Neale B. M., Walters R. K., Nivard M. G., Perry J. R. B., Ganna A.

Publikováno v: Nature Genetics, 53(5), 663-671. Nature Publishing Group
Nature genetics, 53(5), 663-671. Nature Publishing Group
Pirastu, N, Cordioli, M, Nandakumar, P, Mignogna, G, Abdellaoui, A, Hollis, B, Kanai, M, Rajagopal, V M, Parolo, P D B, Baya, N, Carey, C E, Karjalainen, J, Als, T D, Zee, M D V D, Day, F R, Ong, K K, Morisaki, T, Geus, E D, Bellocco, R, Okada, Y, Børglum, A D, Joshi, P, Auton, A, Hinds, D, Neale, B M, Walters, R K, Nivard, M G, Perry, J R B & Ganna, A 2021, ' Genetic analyses identify widespread sex-differential participation bias ', Nature Genetics, vol. 53, 53, pp. 663 . https://doi.org/10.1038/s41588-021-00846-7
Pirastu, N, Cordioli, M, Nandakumar, P, Mignogna, G, Abdellaoui, A, Hollis, B, Kanai, M, Rajagopal, V M, Parolo, P D B, Baya, N, Carey, C E, Karjalainen, J, Als, T D, Van der Zee, M D, Day, F R, Ong, K K, Morisaki, T, de Geus, E, Bellocco, R, Okada, Y, Børglum, A D, Joshi, P, Auton, A, Hinds, D, Neale, B M, Walters, R K, Nivard, M G, Perry, J R B, Ganna, A, FinnGen Study, 23andMe Research Team & iPSYCH Consortium 2021, ' Genetic analyses identify widespread sex-differential participation bias ', Nature Genetics, vol. 53, no. 5, pp. 663-671 . https://doi.org/10.1038/s41588-021-00846-7
Nat Genet
Pirastu, N, Cordioli, M, Nandakumar, P, Mignogna, G, Abdellaoui, A, Hollis, B, Kanai, M, Rajagopal, V M, Parolo, P D B, Baya, N, Carey, C E, Karjalainen, J, Als, T D, Van Der Zee, M D, Day, F R, Ong, K K, Morisaki, T, De Geus, E, Bellocco, R, Okada, Y, Børglum, A D, Joshi, P, Auton, A, Hinds, D, Neale, B M, Walters, R K, Nivard, M G, Perry, J R B & Ganna, A 2021, ' Genetic analyses identify widespread sex-differential participation bias ', Nature Genetics, vol. 53, no. 5, pp. 663-671 . https://doi.org/10.1038/s41588-021-00846-7

Genetic association results are often interpreted with the assumption that study participation does not affect downstream analyses. Understanding the genetic basis of participation bias is challenging since it requires the genotypes of unseen individ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a71745af8272663af6b52258d6ed8794
https://doi.org/10.1038/s41588-021-00846-7

Genetic landscape of the ACE2 coronavirus receptor

Autor: Yang, Z, MacDonald-Dunlop, E, Chen, J, Zhai, R, Li, T, Richmond, A, Klaric, L, Pirastu, N, Ning, Z, Zheng, C, Wang, Y, Huang, T, He, Y, Guo, H, Ying, K, Gustafsson, S, Prins, B, Ramisch, A, Dermitzakis, ET, Png, G, Eriksson, N, Haessler, J, Hu, X, Zanetti, D, Boutin, T, Hwang, S-J, Wheeler, E, Pietzner, M, Raffield, LM, Kalnapenkis, A, Peters, JE, Viñuela, A, Gilly, A, Elmståhl, S, Dedoussis, G, Petrie, JR, Polašek, O, Folkersen, L, Chen, Y, Yao, C, Võsa, U, Pairo-Castineira, E, Clohisey, S, Bretherick, AD, Rawlik, K, Esko, T, Enroth, S, Johansson, Å, Gyllensten, U, Langenberg, C, Levy, D, Hayward, C, Assimes, TL, Kooperberg, C, Manichaikul, AW, Siegbahn, A, Wallentin, L, Lind, L, Zeggini, E, Schwenk, JM, Butterworth, AS, Michaëlsson, K, Pawitan, Y, Joshi, PK, Baillie, JK, Mälarstig, A, Reiner, AP, Wilson, JF, Shen, X, GenOMICC Consortium and the IMI-DIRECT Consortium

Publikováno v: 2022, ' Genetic Landscape of the ACE2 Coronavirus Receptor ', Circulation, vol. 145, no. 18, pp. 1398-1411 . https://doi.org/10.1161/CIRCULATIONAHA.121.057888

Background: SARS-CoV-2, the causal agent of COVID-19, enters human cells using the ACE2 (angiotensin-converting enzyme 2) protein as a receptor. ACE2 is thus key to the infection and treatment of the coronavirus. ACE2 is highly expressed in the heart

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0128f78af77cf151b26041b84787ced5
http://hdl.handle.net/10044/1/96467

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