Rare coding variants in ten genes confer substantial risk for schizophrenia

Autor: Tarjinder Singh, Timothy Poterba, David Curtis, Huda Akil, Mariam Al Eissa, Jack D. Barchas, Nicholas Bass, Tim B. Bigdeli, Gerome Breen, Evelyn J. Bromet, Peter F. Buckley, William E. Bunney, Jonas Bybjerg-Grauholm, William F. Byerley, Sinéad B. Chapman, Wei J. Chen, Claire Churchhouse, Nicholas Craddock, Caroline M. Cusick, Lynn DeLisi, Sheila Dodge, Michael A. Escamilla, Saana Eskelinen, Ayman H. Fanous, Stephen V. Faraone, Alessia Fiorentino, Laurent Francioli, Stacey B. Gabriel, Diane Gage, Sarah A. Gagliano Taliun, Andrea Ganna, Giulio Genovese, David C. Glahn, Jakob Grove, Mei-Hua Hall, Eija Hämäläinen, Henrike O. Heyne, Matti Holi, David M. Hougaard, Daniel P. Howrigan, Hailiang Huang, Hai-Gwo Hwu, René S. Kahn, Hyun Min Kang, Konrad J. Karczewski, George Kirov, James A. Knowles, Francis S. Lee, Douglas S. Lehrer, Francesco Lescai, Dolores Malaspina, Stephen R. Marder, Steven A. McCarroll, Andrew M. McIntosh, Helena Medeiros, Lili Milani, Christopher P. Morley, Derek W. Morris, Preben Bo Mortensen, Richard M. Myers, Merete Nordentoft, Niamh L. O’Brien, Ana Maria Olivares, Dost Ongur, Willem H. Ouwehand, Duncan S. Palmer, Tiina Paunio, Digby Quested, Mark H. Rapaport, Elliott Rees, Brandi Rollins, F. Kyle Satterstrom, Alan Schatzberg, Edward Scolnick, Laura J. Scott, Sally I. Sharp, Pamela Sklar, Jordan W. Smoller, Janet L. Sobell, Matthew Solomonson, Eli A. Stahl, Christine R. Stevens, Jaana Suvisaari, Grace Tiao, Stanley J. Watson, Nicholas A. Watts, Douglas H. Blackwood, Anders D. Børglum, Bruce M. Cohen, Aiden P. Corvin, Tõnu Esko, Nelson B. Freimer, Stephen J. Glatt, Christina M. Hultman, Andrew McQuillin, Aarno Palotie, Carlos N. Pato, Michele T. Pato, Ann E. Pulver, David St. Clair, Ming T. Tsuang, Marquis P. Vawter, James T. Walters, Thomas M. Werge, Roel A. Ophoff, Patrick F. Sullivan, Michael J. Owen, Michael Boehnke, Michael C. O’Donovan, Benjamin M. Neale, Mark J. Daly

Publikováno v: Singh, T, Poterba, T, Curtis, D, Akil, H, Al Eissa, M, Barchas, J D, Bass, N, Bigdeli, T B, Breen, G, Bromet, E J, Buckley, P F, Bunney, W E, Bybjerg-Grauholm, J, Byerley, W F, Chapman, S B, Chen, W J, Churchhouse, C, Craddock, N, Cusick, C M, DeLisi, L, Dodge, S, Escamilla, M A, Eskelinen, S, Fanous, A H, Faraone, S V, Fiorentino, A, Francioli, L, Gabriel, S B, Gage, D, Gagliano Taliun, S A, Ganna, A, Genovese, G, Glahn, D C, Grove, J, Hall, M H, Hämäläinen, E, Heyne, H O, Holi, M, Hougaard, D M, Howrigan, D P, Huang, H, Hwu, H G, Kahn, R S, Kang, H M, Karczewski, K J, Kirov, G, Knowles, J A, Lee, F S, Lehrer, D S, Lescai, F, Malaspina, D, Marder, S R, McCarroll, S A, McIntosh, A M, Medeiros, H, Milani, L, Morley, C P, Morris, D W, Mortensen, P B, Myers, R M, Nordentoft, M, O’Brien, N L, Olivares, A M, Ongur, D, Ouwehand, W H, Palmer, D S, Paunio, T, Quested, D, Rapaport, M H, Rees, E, Rollins, B, Satterstrom, F K, Schatzberg, A, Scolnick, E, Scott, L J, Sharp, S I, Sklar, P, Smoller, J W, Sobell, J L, Solomonson, M, Stahl, E A, Stevens, C R, Suvisaari, J, Tiao, G, Watson, S J, Watts, N A, Blackwood, D H, Børglum, A D, Cohen, B M, Corvin, A P, Esko, T, Freimer, N B, Glatt, S J, Hultman, C M, McQuillin, A, Palotie, A, Pato, C N, Pato, M T, Pulver, A E, St. Clair, D, Tsuang, M T, Vawter, M P, Walters, J T, Werge, T M, Ophoff, R A, Sullivan, P F, Owen, M J, Boehnke, M, O’Donovan, M C, Neale, B M & Daly, M J 2022, ' Rare coding variants in ten genes confer substantial risk for schizophrenia ', Nature, vol. 604, no. 7906, pp. 509-516 . https://doi.org/10.1038/s41586-022-04556-w
Singh, T, Poterba, T, Curtis, D, Akil, H, Al Eissa, M, Barchas, J D, Bass, N, Bigdeli, T B, Breen, G, Bromet, E J, Buckley, P F, Bunney, W E, Bybjerg-Grauholm, J, Byerley, W F, Chapman, S B, Chen, W J, Churchhouse, C, Craddock, N, Cusick, C M, DeLisi, L, Dodge, S, Escamilla, M A, Eskelinen, S, Fanous, A H, Faraone, S V, Fiorentino, A, Francioli, L, Gabriel, S B, Gage, D, Gagliano Taliun, S A, Ganna, A, Genovese, G, Glahn, D C, Grove, J, Hall, M-H, Hämäläinen, E, Heyne, H O, Holi, M, Hougaard, D M, Howrigan, D P, Huang, H, Hwu, H-G, Kahn, R S, Kang, H M, Karczewski, K J, Kirov, G, Knowles, J A, Lee, F S, Lehrer, D S, Lescai, F, Malaspina, D, Marder, S R, McCarroll, S A, McIntosh, A M, Medeiros, H, Milani, L, Morley, C P, Morris, D W, Mortensen, P B, Myers, R M, Nordentoft, M, O'Brien, N L, Olivares, A M, Ongur, D, Ouwehand, W H, Palmer, D S, Paunio, T, Quested, D, Rapaport, M H, Rees, E, Rollins, B, Satterstrom, F K, Schatzberg, A, Scolnick, E, Scott, L J, Sharp, S I, Sklar, P, Smoller, J W, Sobell, J L, Solomonson, M, Stahl, E A, Stevens, C R, Suvisaari, J, Tiao, G, Watson, S J, Watts, N A, Blackwood, D H, Børglum, A D, Cohen, B M, Corvin, A P, Esko, T, Freimer, N B, Glatt, S J, Hultman, C M, McQuillin, A, Palotie, A, Pato, C N, Pato, M T, Pulver, A E, St Clair, D, Tsuang, M T, Vawter, M P, Walters, J T, Werge, T M, Ophoff, R A, Sullivan, P F, Owen, M J, Boehnke, M, O'Donovan, M C, Neale, B M & Daly, M J 2022, ' Rare coding variants in ten genes confer substantial risk for schizophrenia ', Nature, vol. 604, no. 7906, pp. 509-516 . https://doi.org/10.1038/s41586-022-04556-w
Nature, 604(7906), 509-516. Nature Publishing Group
Nature

Rare coding variation has historically provided the most direct connections between gene function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 schizophrenia cases and 97,322 controls, we implicate ultra-rare coding variants

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfe2ccc8fbcc9e1444b626bc8351e653
https://pure.au.dk/portal/da/publications/rare-coding-variants-in-ten-genes-confer-substantial-risk-for-schizophrenia(18614934-0efa-4d5e-be5b-93b19a40453d).html

The effect of LRRK2 loss-of-function variants in humans

Autor: Nicola, Whiffin, Irina M, Armean, Aaron, Kleinman, Jamie L, Marshall, Eric V, Minikel, Julia K, Goodrich, Nicholas M, Quaife, Joanne B, Cole, Qingbo, Wang, Konrad J, Karczewski, Beryl B, Cummings, Laurent, Francioli, Kristen, Laricchia, Anna, Guan, Babak, Alipanahi, Peter, Morrison, Marco A S, Baptista, Kalpana M, Merchant, James S, Ware, Aki S, Havulinna, Bozenna, Iliadou, Jung-Jin, Lee, Girish N, Nadkarni, Cole, Whiteman, Mark, Daly, Tõnu, Esko, Christina, Hultman, Ruth J F, Loos, Lili, Milani, Aarno, Palotie, Carlos, Pato, Michele, Pato, Danish, Saleheen, Patrick F, Sullivan, Jessica, Alföldi, Paul, Cannon, Catherine H, Wilson

Publikováno v: Nat Med

Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation and can be valuable indicators of gene function and the potential toxicity of therapeutic inh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::54f8e9bc57dbcb7e774eee0ecdc54ecd
https://pubmed.ncbi.nlm.nih.gov/33483629