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1. FinnGen provides genetic insights from a well-phenotyped isolated population

Author

Kurki, Mitja I., Karjalainen, Juha, Palta, Priit, Sipilä, Timo P., Kristiansson, Kati, Donner, Kati M., Reeve, Mary P., Laivuori, Hannele, Aavikko, Mervi, Kaunisto, Mari A., Loukola, Anu, Lahtela, Elisa, Mattsson, Hannele, Laiho, Päivi, Della Briotta Parolo, Pietro, Lehisto, Arto A., Kanai, Masahiro, Mars, Nina, Rämö, Joel, Kiiskinen, Tuomo, Heyne, Henrike O., Veerapen, Kumar, Rüeger, Sina, Lemmelä, Susanna, Zhou, Wei, Ruotsalainen, Sanni, Pärn, Kalle, Hiekkalinna, Tero, Koskelainen, Sami, Paajanen, Teemu, Llorens, Vincent, Gracia-Tabuenca, Javier, Siirtola, Harri, Reis, Kadri, Elnahas, Abdelrahman G., Sun, Benjamin, Foley, Christopher N., Aalto-Setälä, Katriina, Alasoo, Kaur, Arvas, Mikko, Auro, Kirsi, Biswas, Shameek, Bizaki-Vallaskangas, Argyro, Carpen, Olli, Chen, Chia-Yen, Dada, Oluwaseun A., Ding, Zhihao, Ehm, Margaret G., Eklund, Kari, Färkkilä, Martti, Finucane, Hilary, Ganna, Andrea, Ghazal, Awaisa, Graham, Robert R., Green, Eric M., Hakanen, Antti, Hautalahti, Marco, Hedman, Åsa K., Hiltunen, Mikko, Hinttala, Reetta, Hovatta, Iiris, Hu, Xinli, Huertas-Vazquez, Adriana, Huilaja, Laura, Hunkapiller, Julie, Jacob, Howard, Jensen, Jan-Nygaard, Joensuu, Heikki, John, Sally, Julkunen, Valtteri, Jung, Marc, Junttila, Juhani, Kaarniranta, Kai, Kähönen, Mika, Kajanne, Risto, Kallio, Lila, Kälviäinen, Reetta, Kaprio, Jaakko, Kerimov, Nurlan, Kettunen, Johannes, Kilpeläinen, Elina, Kilpi, Terhi, Klinger, Katherine, Kosma, Veli-Matti, Kuopio, Teijo, Kurra, Venla, Laisk, Triin, Laukkanen, Jari, Lawless, Nathan, Liu, Aoxing, Longerich, Simonne, Mägi, Reedik, Mäkelä, Johanna, Mäkitie, Antti, Malarstig, Anders, Mannermaa, Arto, Maranville, Joseph, Matakidou, Athena, Meretoja, Tuomo, Mozaffari, Sahar V., Niemi, Mari E. K., Niemi, Marianna, Niiranen, Teemu, O´Donnell, Christopher J., Obeidat, Ma´en, Okafo, George, Ollila, Hanna M., Palomäki, Antti, Palotie, Tuula, Partanen, Jukka, Paul, Dirk S., Pelkonen, Margit, Pendergrass, Rion K., Petrovski, Slavé, Pitkäranta, Anne, Platt, Adam, Pulford, David, Punkka, Eero, Pussinen, Pirkko, Raghavan, Neha, Rahimov, Fedik, Rajpal, Deepak, Renaud, Nicole A., Riley-Gillis, Bridget, Rodosthenous, Rodosthenis, Saarentaus, Elmo, Salminen, Aino, Salminen, Eveliina, Salomaa, Veikko, Schleutker, Johanna, Serpi, Raisa, Shen, Huei-yi, Siegel, Richard, Silander, Kaisa, Siltanen, Sanna, Soini, Sirpa, Soininen, Hilkka, Sul, Jae Hoon, Tachmazidou, Ioanna, Tasanen, Kaisa, Tienari, Pentti, Toppila-Salmi, Sanna, Tukiainen, Taru, Tuomi, Tiinamaija, Turunen, Joni A., Ulirsch, Jacob C., Vaura, Felix, Virolainen, Petri, Waring, Jeffrey, Waterworth, Dawn, Yang, Robert, Nelis, Mari, Reigo, Anu, Metspalu, Andres, Milani, Lili, Esko, Tõnu, Fox, Caroline, Havulinna, Aki S., Perola, Markus, Ripatti, Samuli, Jalanko, Anu, Laitinen, Tarja, Mäkelä, Tomi P., Plenge, Robert, McCarthy, Mark, Runz, Heiko, Daly, Mark J., and Palotie, Aarno

Published
2023
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2. Genetic Inhibition of APOL1 Pore-Forming Function Prevents APOL1-Mediated Kidney Disease

Author

Hung, Adriana M., Assimon, Victoria A., Chen, Hua-Chang, Yu, Zhihong, Vlasschaert, Caitlyn, Triozzi, Jefferson L., Chan, Helen, Wheless, Lee, Wilson, Otis, Shah, Shailja C., Mack, Taralynn, Thompson, Trevor, Matheny, Michael E., Chandrasekar, Saranya, Mozaffari, Sahar V., Chung, Cecilia P., Tsao, Philip, Susztak, Katalin, Siew, Edward D., Estrada, Karol, Gaziano, J. Michael, Graham, Robert R., Tao, Ran, Hoek, Maarten, Robinson-Cohen, Cassianne, Green, Eric M., Bick, Alexander G., Muralidhar, Sumitra, Moser, Jennifer, Deen, Jennifer E., Tsao, Philip S., Gaziano, J. Michael, Hauser, Elizabeth, Kilbourne, Amy, Luoh, Shiuh-Wen, Matheny, Michael, Oslin, Dave, Churby, Lori, Whitbourne, Stacey B., Brewer, Jessica V., Shayan, Shahpoor (Alex), Selva, Luis E., Pyarajan, Saiju, Cho, Kelly, DuVall, Scott L., Brophy, Mary T., Stephens, Brady, Connor, Todd, Argyres, Dean P., Assimes, Tim, Hung, Adriana, Kranzler, Henry, Aguayo, Samuel, Ahuja, Sunil, Alexander, Kathrina, Androulakis, Xiao M., Balasubramanian, Prakash, Ballas, Zuhair, Beckham, Jean, Bhushan, Sujata, Boyko, Edward, Cohen, David, Dellitalia, Louis, Faulk, L. Christine, Fayad, Joseph, Fujii, Daryl, Gappy, Saib, Gesek, Frank, Greco, Jennifer, Godschalk, Michael, Gress, Todd W., Gupta, Samir, Gutierrez, Salvador, Harley, John, Hammer, Kimberly, Hamner, Mark, Hurley, Robin, Iruvanti, Pran, Jacono, Frank, Jhala, Darshana, Kinlay, Scott, Klein, Jon, Landry, Michael, Liang, Peter, Liangpunsakul, Suthat, Lichy, Jack, Mahan, C. Scott, Marrache, Ronnie, Mastorides, Stephen, Mates, Elisabeth, Mattocks, Kristin, Meyer, Paul, Moorman, Jonathan, Morgan, Timothy, Murdoch, Maureen, Norton, James, Okusaga, Olaoluwa, Oursler, Kris Ann, Palacio, Ana, Poon, Samuel, Potter, Emily, Rauchman, Michael, Servatius, Richard, Sharma, Satish, Smith, River, Sriram, Peruvemba, Strollo, Patrick, Jr., Tandon, Neeraj, Tsao, Philip, Villareal, Gerardo, Wallbom, Agnes, Walsh, Jessica, Wells, John, Whittle, Jeffrey, Whooley, Mary, Williams, Allison E., Wilson, Peter, Xu, Junzhe, and Yeh, Shing Shing

Published
2023
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3. Multi-Trait Genetic Analysis Identifies Autoimmune Loci Associated with Cutaneous Melanoma

Author

Agee, Michelle, Aslibekyan, Stella, Auton, Adam, Babalola, Elizabeth, Bell, Robert K., Bielenberg, Jessica, Bryc, Katarzyna, Bullis, Emily, Cameron, Briana, Coker, Daniella, Cuellar Partida, Gabriel, Dhamija, Devika, Das, Sayantan, Elson, Sarah L., Filshtein, Teresa, Fletez-Brant, Kipper, Fontanillas, Pierre, Freyman, Will, Gandhi, Pooja M., Heilbron, Karl, Hicks, Barry, Hinds, David A., Huber, Karen E., Jewett, Ethan M., Kleinman, Aaron, Kukar, Katelyn, Lin, Keng-Han, Lowe, Maya, Luff, Marie K., McCreight, Jennifer C., McIntyre, Matthew H., McManus, Kimberly F., Micheletti, Steven J., Moreno, Meghan E., Mountain, Joanna L., Mozaffari, Sahar V., Nandakumar, Priyanka, Noblin, Elizabeth S., O'Connell, Jared, Petrakovitz, Aaron A., Poznik, G. David, Shastri, Anjali J., Shelton, Janie F., Shi, Jingchunzi, Shringarpure, Suyash, Tran, Vinh, Tung, Joyce Y., Wang, Xin, Wang, Wei, Weldon, Catherine H., Wilton, Peter, Liyanage, Upekha E., MacGregor, Stuart, Bishop, D. Timothy, Shi, Jianxin, An, Jiyuan, Ong, Jue Sheng, Han, Xikun, Scolyer, Richard A., Martin, Nicholas G., Medland, Sarah E., Byrne, Enda M., Green, Adèle C., Saw, Robyn P.M., Thompson, John F., Stretch, Jonathan, Spillane, Andrew, Jiang, Yunxuan, Tian, Chao, Gordon, Scott G., Duffy, David L., Olsen, Catherine M., Whiteman, David C., Long, Georgina V., Iles, Mark M., Landi, Maria Teresa, and Law, Matthew H.

Published
2022
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4. Prevalence of Alpha-1 Antitrypsin Deficiency, Self-Reported Behavior Change, and Health Care Engagement Among Direct-to-Consumer Recipients of a Personalized Genetic Risk Report

Author

Agee, Michelle, Aslibekyan, Stella, Auton, Adam, Babalola, Elizabeth, Bell, Robert K., Bielenberg, Jessica, Bryc, Katarzyna, Bullis, Emily, Cameron, Briana, Coker, Daniella, Partida, Gabriel Cuellar, Dhamija, Devika, Das, Sayantan, Elson, Sarah L., Filshtein, Teresa, Fletez-Brant, Kipper, Fontanillas, Pierre, Freyman, Will, Gandhi, Pooja M., Heilbron, Karl, Hicks, Barry, Hinds, David A., Huber, Karen E., Jewett, Ethan M., Jiang, Yunxuan, Kleinman, Aaron, Kukar, Katelyn, Lane, Vanessa A., Lin, Keng-Han, Lowe, Maya, Luff, Marie K., McCreight, Jennifer C., McIntyre, Matthew H., McManus, Kimberly F., Micheletti, Steven J., Moreno, Meghan E., Mountain, Joanna L., Mozaffari, Sahar V., Nandakumar, Priyanka, Noblin, Elizabeth S., O’Connell, Jared, Petrakovitz, Aaron A., Poznik, G. David, Schumacher, Morgan, Shastri, Anjali J., Shelton, Janie F., Shi, Jingchunzi, Shringarpure, Suyash, Tian, Chao, Tran, Vinh, Tung, Joyce Y., Wang, Xin, Wang, Wei, Weldon, Catherine H., Wilton, Peter, Ashenhurst, James R., Nhan, Hoang, Wu, Shirley, and Stoller, James K.

Published
2022
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5. Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population

Author

Kurki, Mitja I., Karjalainen, Juha, Palta, Priit, Sipilä, Timo P., Kristiansson, Kati, Donner, Kati M., Reeve, Mary P., Laivuori, Hannele, Aavikko, Mervi, Kaunisto, Mari A., Loukola, Anu, Lahtela, Elisa, Mattsson, Hannele, Laiho, Päivi, Della Briotta Parolo, Pietro, Lehisto, Arto A., Kanai, Masahiro, Mars, Nina, Rämö, Joel, Kiiskinen, Tuomo, Heyne, Henrike O., Veerapen, Kumar, Rüeger, Sina, Lemmelä, Susanna, Zhou, Wei, Ruotsalainen, Sanni, Pärn, Kalle, Hiekkalinna, Tero, Koskelainen, Sami, Paajanen, Teemu, Llorens, Vincent, Gracia-Tabuenca, Javier, Siirtola, Harri, Reis, Kadri, Elnahas, Abdelrahman G., Sun, Benjamin, Foley, Christopher N., Aalto-Setälä, Katriina, Alasoo, Kaur, Arvas, Mikko, Auro, Kirsi, Biswas, Shameek, Bizaki-Vallaskangas, Argyro, Carpen, Olli, Chen, Chia-Yen, Dada, Oluwaseun A., Ding, Zhihao, Ehm, Margaret G., Eklund, Kari, Färkkilä, Martti, Finucane, Hilary, Ganna, Andrea, Ghazal, Awaisa, Graham, Robert R., Green, Eric M., Hakanen, Antti, Hautalahti, Marco, Hedman, Åsa K., Hiltunen, Mikko, Hinttala, Reetta, Hovatta, Iiris, Hu, Xinli, Huertas-Vazquez, Adriana, Huilaja, Laura, Hunkapiller, Julie, Jacob, Howard, Jensen, Jan-Nygaard, Joensuu, Heikki, John, Sally, Julkunen, Valtteri, Jung, Marc, Junttila, Juhani, Kaarniranta, Kai, Kähönen, Mika, Kajanne, Risto, Kallio, Lila, Kälviäinen, Reetta, Kaprio, Jaakko, Kerimov, Nurlan, Kettunen, Johannes, Kilpeläinen, Elina, Kilpi, Terhi, Klinger, Katherine, Kosma, Veli-Matti, Kuopio, Teijo, Kurra, Venla, Laisk, Triin, Laukkanen, Jari, Lawless, Nathan, Liu, Aoxing, Longerich, Simonne, Mägi, Reedik, Mäkelä, Johanna, Mäkitie, Antti, Malarstig, Anders, Mannermaa, Arto, Maranville, Joseph, Matakidou, Athena, Meretoja, Tuomo, Mozaffari, Sahar V., Niemi, Mari E. K., Niemi, Marianna, Niiranen, Teemu, O´Donnell, Christopher J., Obeidat, Ma´en, Okafo, George, Ollila, Hanna M., Palomäki, Antti, Palotie, Tuula, Partanen, Jukka, Paul, Dirk S., Pelkonen, Margit, Pendergrass, Rion K., Petrovski, Slavé, Pitkäranta, Anne, Platt, Adam, Pulford, David, Punkka, Eero, Pussinen, Pirkko, Raghavan, Neha, Rahimov, Fedik, Rajpal, Deepak, Renaud, Nicole A., Riley-Gillis, Bridget, Rodosthenous, Rodosthenis, Saarentaus, Elmo, Salminen, Aino, Salminen, Eveliina, Salomaa, Veikko, Schleutker, Johanna, Serpi, Raisa, Shen, Huei-yi, Siegel, Richard, Silander, Kaisa, Siltanen, Sanna, Soini, Sirpa, Soininen, Hilkka, Sul, Jae Hoon, Tachmazidou, Ioanna, Tasanen, Kaisa, Tienari, Pentti, Toppila-Salmi, Sanna, Tukiainen, Taru, Tuomi, Tiinamaija, Turunen, Joni A., Ulirsch, Jacob C., Vaura, Felix, Virolainen, Petri, Waring, Jeffrey, Waterworth, Dawn, Yang, Robert, Nelis, Mari, Reigo, Anu, Metspalu, Andres, Milani, Lili, Esko, Tõnu, Fox, Caroline, Havulinna, Aki S., Perola, Markus, Ripatti, Samuli, Jalanko, Anu, Laitinen, Tarja, Mäkelä, Tomi P., Plenge, Robert, McCarthy, Mark, Runz, Heiko, Daly, Mark J., and Palotie, Aarno

Published
2023
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6. Genome evolution in the allotetraploid frog Xenopus laevis

Author

Session, Adam M, Uno, Yoshinobu, Kwon, Taejoon, Chapman, Jarrod A, Toyoda, Atsushi, Takahashi, Shuji, Fukui, Akimasa, Hikosaka, Akira, Suzuki, Atsushi, Kondo, Mariko, van Heeringen, Simon J, Quigley, Ian, Heinz, Sven, Ogino, Hajime, Ochi, Haruki, Hellsten, Uffe, Lyons, Jessica B, Simakov, Oleg, Putnam, Nicholas, Stites, Jonathan, Kuroki, Yoko, Tanaka, Toshiaki, Michiue, Tatsuo, Watanabe, Minoru, Bogdanovic, Ozren, Lister, Ryan, Georgiou, Georgios, Paranjpe, Sarita S, van Kruijsbergen, Ila, Shu, Shengquiang, Carlson, Joseph, Kinoshita, Tsutomu, Ohta, Yuko, Mawaribuchi, Shuuji, Jenkins, Jerry, Grimwood, Jane, Schmutz, Jeremy, Mitros, Therese, Mozaffari, Sahar V, Suzuki, Yutaka, Haramoto, Yoshikazu, Yamamoto, Takamasa S, Takagi, Chiyo, Heald, Rebecca, Miller, Kelly, Haudenschild, Christian, Kitzman, Jacob, Nakayama, Takuya, Izutsu, Yumi, Robert, Jacques, Fortriede, Joshua, Burns, Kevin, Lotay, Vaneet, Karimi, Kamran, Yasuoka, Yuuri, Dichmann, Darwin S, Flajnik, Martin F, Houston, Douglas W, Shendure, Jay, DuPasquier, Louis, Vize, Peter D, Zorn, Aaron M, Ito, Michihiko, Marcotte, Edward M, Wallingford, John B, Ito, Yuzuru, Asashima, Makoto, Ueno, Naoto, Matsuda, Yoichi, Veenstra, Gert Jan C, Fujiyama, Asao, Harland, Richard M, Taira, Masanori, and Rokhsar, Daniel S

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Biotechnology, Human Genome, Animals, Chromosomes, Conserved Sequence, DNA Transposable Elements, Diploidy, Evolution, Molecular, Female, Gene Deletion, Gene Expression Profiling, Genome, Karyotype, Molecular Sequence Annotation, Mutagenesis, Phylogeny, Pseudogenes, Tetraploidy, Xenopus, Xenopus laevis, General Science & Technology
Abstract

To explore the origins and consequences of tetraploidy in the African clawed frog, we sequenced the Xenopus laevis genome and compared it to the related diploid X. tropicalis genome. We characterize the allotetraploid origin of X. laevis by partitioning its genome into two homoeologous subgenomes, marked by distinct families of 'fossil' transposable elements. On the basis of the activity of these elements and the age of hundreds of unitary pseudogenes, we estimate that the two diploid progenitor species diverged around 34 million years ago (Ma) and combined to form an allotetraploid around 17-18 Ma. More than 56% of all genes were retained in two homoeologous copies. Protein function, gene expression, and the amount of conserved flanking sequence all correlate with retention rates. The subgenomes have evolved asymmetrically, with one chromosome set more often preserving the ancestral state and the other experiencing more gene loss, deletion, rearrangement, and reduced gene expression.

Published
2016

8. FinnGen provides genetic insights from a well-phenotyped isolated population

Author

Kurki, Mitja I, Karjalainen, Juha, Palta, Priit, Sipilä, Timo P, Kristiansson, Kati, Donner, Kati M, Reeve, Mary P, Laivuori, Hannele, Aavikko, Mervi, Kaunisto, Mari A, Loukola, Anu, Lahtela, Elisa, Mattsson, Hannele, Laiho, Päivi, Della Briotta Parolo, Pietro, Lehisto, Arto A, Kanai, Masahiro, Mars, Nina, Rämö, Joel, Kiiskinen, Tuomo, Heyne, Henrike O, Veerapen, Kumar, Rüeger, Sina, Lemmelä, Susanna, Zhou, Wei, Ruotsalainen, Sanni, Pärn, Kalle, Hiekkalinna, Tero, Koskelainen, Sami, Paajanen, Teemu, Llorens, Vincent, Gracia-Tabuenca, Javier, Siirtola, Harri, Reis, Kadri, Elnahas, Abdelrahman G, Sun, Benjamin, Foley, Christopher N, Aalto-Setälä, Katriina, Alasoo, Kaur, Arvas, Mikko, Auro, Kirsi, Biswas, Shameek, Bizaki-Vallaskangas, Argyro, Carpen, Olli, Chen, Chia-Yen, Dada, Oluwaseun A, Ding, Zhihao, Ehm, Margaret G, Eklund, Kari, Färkkilä, Martti, Finucane, Hilary, Ganna, Andrea, Ghazal, Awaisa, Graham, Robert R, Green, Eric M, Hakanen, Antti, Hautalahti, Marco, Hedman, Åsa K, Hiltunen, Mikko, Hinttala, Reetta, Hovatta, Iiris, Hu, Xinli, Huertas-Vazquez, Adriana, Huilaja, Laura, Hunkapiller, Julie, Jacob, Howard, Jensen, Jan-Nygaard, Joensuu, Heikki, John, Sally, Julkunen, Valtteri, Jung, Marc, Junttila, Juhani, Kaarniranta, Kai, Kähönen, Mika, Kajanne, Risto, Kallio, Lila, Kälviäinen, Reetta, Kaprio, Jaakko, FinnGen, Kerimov, Nurlan, Kettunen, Johannes, Kilpeläinen, Elina, Kilpi, Terhi, Klinger, Katherine, Kosma, Veli-Matti, Kuopio, Teijo, Kurra, Venla, Laisk, Triin, Laukkanen, Jari, Lawless, Nathan, Liu, Aoxing, Longerich, Simonne, Mägi, Reedik, Mäkelä, Johanna, Mäkitie, Antti, Malarstig, Anders, Mannermaa, Arto, Maranville, Joseph, Matakidou, Athena, Meretoja, Tuomo, Mozaffari, Sahar V, Niemi, Mari EK, Niemi, Marianna, Niiranen, Teemu, O Donnell, Christopher J, Obeidat, Ma En, Okafo, George, Ollila, Hanna M, Palomäki, Antti, Palotie, Tuula, Partanen, Jukka, Paul, Dirk S, Pelkonen, Margit, Pendergrass, Rion K, Petrovski, Slavé, Pitkäranta, Anne, Platt, Adam, Pulford, David, Punkka, Eero, Pussinen, Pirkko, Raghavan, Neha, Rahimov, Fedik, Rajpal, Deepak, Renaud, Nicole A, Riley-Gillis, Bridget, Rodosthenous, Rodosthenis, Saarentaus, Elmo, Salminen, Aino, Salminen, Eveliina, Salomaa, Veikko, Schleutker, Johanna, Serpi, Raisa, Shen, Huei-Yi, Siegel, Richard, Silander, Kaisa, Siltanen, Sanna, Soini, Sirpa, Soininen, Hilkka, Sul, Jae Hoon, Tachmazidou, Ioanna, Tasanen, Kaisa, Tienari, Pentti, Toppila-Salmi, Sanna, Tukiainen, Taru, Tuomi, Tiinamaija, Turunen, Joni A, Ulirsch, Jacob C, Vaura, Felix, Virolainen, Petri, Waring, Jeffrey, Waterworth, Dawn, Yang, Robert, Nelis, Mari, Reigo, Anu, Metspalu, Andres, Milani, Lili, Esko, Tõnu, Fox, Caroline, Havulinna, Aki S, Perola, Markus, Ripatti, Samuli, Jalanko, Anu, Laitinen, Tarja, Mäkelä, Tomi P, Plenge, Robert, McCarthy, Mark, Runz, Heiko, Daly, Mark J, Palotie, Aarno, Palotie, Aarno [0000-0002-2527-5874], and Apollo - University of Cambridge Repository

Subjects
Estonia, 631/208/205/2138, 692/308/2056, 45/43, article, Middle Aged, United Kingdom, White People, 631/208/457/649/2219, Phenotype, Gene Frequency, Meta-Analysis as Topic, 631/208/727/2000, Humans, Disease, Genetic Predisposition to Disease, Finland, Genome-Wide Association Study
Abstract

Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These variants survived the founding bottleneck rather than being distributed over a large number of ultrarare variants. Although this effect is well established in Mendelian genetics, its value in common disease genetics is less explored1,2. FinnGen aims to study the genome and national health register data of 500,000 Finnish individuals. Given the relatively high median age of participants (63 years) and the substantial fraction of hospital-based recruitment, FinnGen is enriched for disease end points. Here we analyse data from 224,737 participants from FinnGen and study 15 diseases that have previously been investigated in large genome-wide association studies (GWASs). We also include meta-analyses of biobank data from Estonia and the United Kingdom. We identified 30 new associations, primarily low-frequency variants, enriched in the Finnish population. A GWAS of 1,932 diseases also identified 2,733 genome-wide significant associations (893 phenome-wide significant (PWS), P < 2.6 × 10-11) at 2,496 (771 PWS) independent loci with 807 (247 PWS) end points. Among these, fine-mapping implicated 148 (73 PWS) coding variants associated with 83 (42 PWS) end points. Moreover, 91 (47 PWS) had an allele frequency of

Published
2023
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9. Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders

Author

Eijsbouts, Chris, Zheng, Tenghao, Kennedy, Nicholas A., Bonfiglio, Ferdinando, Anderson, Carl A., Moutsianas, Loukas, Holliday, Joanne, Shi, Jingchunzi, Shringarpure, Suyash, Voda, Alexandru-Ioan, Farrugia, Gianrico, Franke, Andre, H��benthal, Matthias, Abecasis, Gon��alo, Zawistowski, Matthew, Skogholt, Anne Heidi, Ness-Jensen, Eivind, Hveem, Kristian, Esko, T��nu, Teder-Laving, Maris, Zhernakova, Alexandra, Camilleri, Michael, Boeckxstaens, Guy, Whorwell, Peter J., Spiller, Robin, McVean, Gil, D���Amato, Mauro, Jostins, Luke, Parkes, Miles, Agee, Michelle, Aslibekyan, Stella, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Clark, Sarah K., Elson, Sarah L., Fletez-Brant, Kipper, Fontanillas, Pierre, Furlotte, Nicholas A., Gandhi, Pooja M., Heilbron, Karl, Hicks, Barry, Hinds, David A., Huber, Karen E., Jewett, Ethan M., Jiang, Yunxuan, Kleinman, Aaron, Lin, Keng-Han, Litterman, Nadia K., Luff, Marie K., McCreight, Jey C., McIntyre, Matthew H., McManus, Kimberly F., Mountain, Joanna L., Mozaffari, Sahar V., Nandakumar, Priyanka, Noblin, Elizabeth S., Northover, Carrie A. M., O���Connell, Jared, Petrakovitz, Aaron A., Pitts, Steven J., Poznik, G. David, Sathirapongsasuti, J. Fah, Shastri, Anjali J., Shelton, Janie F., Tian, Chao, Tung, Joyce Y., Tunney, Robert J., Vacic, Vladimir, Wang, Xin, Zare, Amir S., Kashyap, Purna, Chang, Lin, Mayer, Emeran, Heitkemper, Margaret, Sayuk, Gregory S., Ringel-Kulka, Tamar, Ringel, Yehuda, Chey, William D., Eswaran, Shanti, Merchant, Juanita L., Shulman, Robert J., Bujanda, Luis, Garcia-Etxebarria, Koldo, Dlugosz, Aldona, Lindberg, Greger, Schmidt, Peter T., Karling, Pontus, Ohlsson, Bodil, Walter, Susanna, Faresj��, ��shild O., Simren, Magnus, Halfvarson, Jonas, Portincasa, Piero, Barbara, Giovanni, Usai-Satta, Paolo, Neri, Matteo, Nardone, Gerardo, Cuomo, Rosario, Galeazzi, Francesca, Bellini, Massimo, Latiano, Anna, Houghton, Lesley, Jonkers, Daisy, Kurilshikov, Alexander, Weersma, Rinse K., Netea, Mihai, Tesarz, Jonas, Gauss, Annika, Goebel-Stengel, Miriam, Andresen, Viola, Frieling, Thomas, Pehl, Christian, Schaefert, Rainer, Niesler, Beate, Lieb, Wolfgang, Hanevik, Kurt, Langeland, Nina, Wensaas, Knut-Arne, Litleskare, Sverre, Gabrielsen, Maiken E., Thomas, Laurent, Thijs, Vincent, Lemmens, Robin, Van Oudenhove, Lukas, Wouters, Mira, Eijsbouts C., Zheng T., Kennedy N.A., Bonfiglio F., Anderson C.A., Moutsianas L., Holliday J., Shi J., Shringarpure S., Agee M., Aslibekyan S., Auton A., 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., Hinds D.A., Huber K.E., Jewett E.M., Jiang Y., Kleinman A., Lin K.-H., Litterman N.K., Luff M.K., McCreight J.C., McIntyre M.H., McManus K.F., Mountain J.L., Mozaffari S.V., Nandakumar P., Noblin E.S., Northover C.A.M., O'Connell J., Petrakovitz A.A., Pitts S.J., Poznik G.D., Sathirapongsasuti J.F., Shastri A.J., Shelton J.F., Tian C., Tung J.Y., Tunney R.J., Vacic V., Wang X., Zare A.S., Voda A.-I., Kashyap P., Chang L., Mayer E., Heitkemper M., Sayuk G.S., Ringel-Kulka T., Ringel Y., Chey W.D., Eswaran S., Merchant J.L., Shulman R.J., Bujanda L., Garcia-Etxebarria K., Dlugosz A., Lindberg G., Schmidt P.T., Karling P., Ohlsson B., Walter S., Faresjo A.O., Simren M., Halfvarson J., Portincasa P., Barbara G., Usai-Satta P., Neri M., Nardone G., Cuomo R., Galeazzi F., Bellini M., Latiano A., Houghton L., Jonkers D., Kurilshikov A., Weersma R.K., Netea M., Tesarz J., Gauss A., Goebel-Stengel M., Andresen V., Frieling T., Pehl C., Schaefert R., Niesler B., Lieb W., Hanevik K., Langeland N., Wensaas K.-A., Litleskare S., Gabrielsen M.E., Thomas L., Thijs V., Lemmens R., Van Oudenhove L., Wouters M., Farrugia G., Franke A., Hubenthal M., Abecasis G., Zawistowski M., Skogholt A.H., Ness-Jensen E., Hveem K., Esko T., Teder-Laving M., Zhernakova A., Camilleri M., Boeckxstaens G., Whorwell P.J., Spiller R., McVean G., D'Amato M., Jostins L., Parkes M., Eijsbouts, Chris [0000-0001-5179-0653], Anderson, Carl A. [0000-0003-1719-7009], Moutsianas, Loukas [0000-0001-5453-345X], Holliday, Joanne [0000-0003-4568-7320], Shringarpure, Suyash [0000-0001-6464-2668], Voda, Alexandru-Ioan [0000-0003-2974-6992], Farrugia, Gianrico [0000-0003-3473-5235], Hübenthal, Matthias [0000-0002-5956-3006], Abecasis, Gonçalo [0000-0003-1509-1825], Zawistowski, Matthew [0000-0002-3005-083X], Ness-Jensen, Eivind [0000-0001-6005-0729], Teder-Laving, Maris [0000-0002-5872-1850], Camilleri, Michael [0000-0001-6472-7514], Whorwell, Peter J. [0000-0002-5220-8474], Spiller, Robin [0000-0001-6371-4500], McVean, Gil [0000-0002-5012-4162], D’Amato, Mauro [0000-0003-2743-5197], Jostins, Luke [0000-0002-2475-3969], Parkes, Miles [0000-0002-6467-0631], Apollo - University of Cambridge Repository, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Translational Immunology Groningen (TRIGR), Eijsbouts, C., Zheng, T., Kennedy, N. A., Bonfiglio, F., Anderson, C. A., Moutsianas, L., Holliday, J., Shi, J., Shringarpure, S., Agee, M., Aslibekyan, S., Auton, A., 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., Hinds, D. A., Huber, K. E., Jewett, E. M., Jiang, Y., Kleinman, A., Lin, K. -H., Litterman, N. K., Luff, M. K., Mccreight, J. C., Mcintyre, M. H., Mcmanus, K. F., Mountain, J. L., Mozaffari, S. V., Nandakumar, P., Noblin, E. S., Northover, C. A. M., O'Connell, J., Petrakovitz, A. A., Pitts, S. J., Poznik, G. D., Sathirapongsasuti, J. F., Shastri, A. J., Shelton, J. F., Tian, C., Tung, J. Y., Tunney, R. J., Vacic, V., Wang, X., Zare, A. S., Voda, A. -I., Kashyap, P., Chang, L., Mayer, E., Heitkemper, M., Sayuk, G. S., Ringel-Kulka, T., Ringel, Y., Chey, W. D., Eswaran, S., Merchant, J. L., Shulman, R. J., Bujanda, L., Garcia-Etxebarria, K., Dlugosz, A., Lindberg, G., Schmidt, P. T., Karling, P., Ohlsson, B., Walter, S., Faresjo, A. O., Simren, M., Halfvarson, J., Portincasa, P., Barbara, G., Usai-Satta, P., Neri, M., Nardone, G., Cuomo, R., Galeazzi, F., Bellini, M., Latiano, A., Houghton, L., Jonkers, D., Kurilshikov, A., Weersma, R. K., Netea, M., Tesarz, J., Gauss, A., Goebel-Stengel, M., Andresen, V., Frieling, T., Pehl, C., Schaefert, R., Niesler, B., Lieb, W., Hanevik, K., Langeland, N., Wensaas, K. -A., Litleskare, S., Gabrielsen, M. E., Thomas, L., Thijs, V., Lemmens, R., Van Oudenhove, L., Wouters, M., Farrugia, G., Franke, A., Hubenthal, M., Abecasis, G., Zawistowski, M., Skogholt, A. H., Ness-Jensen, E., Hveem, K., Esko, T., Teder-Laving, M., Zhernakova, A., Camilleri, M., Boeckxstaens, G., Whorwell, P. J., Spiller, R., Mcvean, G., D'Amato, M., Jostins, L., and Parkes, M.

Subjects
Male, Molecular Chaperone, Mood Disorder, 631/208/205/2138, Biology, 692/699/1503/1502/2071, Bioinformatics, Polymorphism, Single Nucleotide, Genetic pathways, 38/43, Irritable Bowel Syndrome, Cytoskeletal Protein, Genetics, medicine, Genetic predisposition, Aged, Anxiety Disorders, CD56 Antigen, Cell Adhesion Molecules, Cytoskeletal Proteins, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Guanine Nucleotide Exchange Factors, Homeodomain Proteins, Humans, Middle Aged, Molecular Chaperones, Mood Disorders, United Kingdom, Polymorphism, 692/699/476, Irritable bowel syndrome, Depression (differential diagnoses), article, Homeodomain Protein, Single Nucleotide, Guanine Nucleotide Exchange Factor, medicine.disease, Neuroticism, Biobank, Mood, Cell Adhesion Molecule, Anxiety, medicine.symptom, Anxiety Disorder, Human
Abstract

Funder: Kennedy Trust Rheumatology Research Prize Studentship, Funder: DFG Cluster of Excellence ���Precision Medicine in Chronic In-flammation��� (PMI; ID: EXC2167), Funder: EC | EC Seventh Framework Programm | FP7 Ideas: European Research Council (FP7-IDEAS-ERC - Specific Programme: ���Ideas��� Implementing the Seventh Framework Programme of the European Community for Research, Technological Development and Demonstration Activities (2007 to 2013)); doi: https://doi.org/10.13039/100011199; Grant(s): 715772, Funder: NWO-VIDI grant 016.178.056, the Netherlands Heart Foundation CVON grant 2018-27, and NWO Gravitation grant ExposomeNL, Funder: Li Ka Shing Foundation (Li Ka Shing Foundation Limited); doi: https://doi.org/10.13039/100007421, Irritable bowel syndrome (IBS) results from disordered brain���gut interactions. Identifying susceptibility genes could highlight the underlying pathophysiological mechanisms. We designed a digestive health questionnaire for UK Biobank and combined identified cases with IBS with independent cohorts. We conducted a genome-wide association study with 53,400 cases and 433,201 controls and replicated significant associations in a 23andMe panel (205,252 cases and 1,384,055 controls). Our study identified and confirmed six genetic susceptibility loci for IBS. Implicated genes included NCAM1, CADM2, PHF2/FAM120A, DOCK9, CKAP2/TPTE2P3 and BAG6. The first four are associated with mood and anxiety disorders, expressed in the nervous system, or both. Mirroring this, we also found strong genome-wide correlation between the risk of IBS and anxiety, neuroticism and depression (rg > 0.5). Additional analyses suggested this arises due to shared pathogenic pathways rather than, for example, anxiety causing abdominal symptoms. Implicated mechanisms require further exploration to help understand the altered brain���gut interactions underlying IBS.

Published
2021

10. Genome-wide association study of musical beat synchronization demonstrates high polygenicity

Author

Niarchou, Maria, Gustavson, Daniel E., Sathirapongsasuti, J. Fah, Anglada-Tort, Manuel, Eising, Else, Bell, Eamonn, McArthur, Evonne, Straub, Peter, Aslibekyan, Stella, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Clark, Sarah K., Elson, Sarah L., Fletez-Brant, Kipper, Fontanillas, Pierre, Furlotte, Nicholas A., Gandhi, Pooja M., Heilbron, Karl, Hicks, Barry, Huber, Karen E., Jewett, Ethan M., Jiang, Yunxuan, Kleinman, Aaron, Lin, Keng-Han, Litterman, Nadia K., McCreight, Jey C., McIntyre, Matthew H., McManus, Kimberly F., Mountain, Joanna L., Mozaffari, Sahar V., Nandakumar, Priyanka, Noblin, Elizabeth S., Northover, Carrie A. M., O’Connell, Jared, Pitts, Steven J., Poznik, G. David, Shastri, Anjali J., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Tunney, Robert J., Vacic, Vladimir, Wang, Xin, McAuley, J. Devin, Capra, John A., Ullén, Fredrik, Creanza, Nicole, Mosing, Miriam A., Hinds, David A., Davis, Lea K., Jacoby, Nori, Gordon, Reyna L., and The 23andMe Research Team

Subjects
Multifactorial Inheritance, Behavioral Neuroscience, Social Psychology, Nucleotides, Humans, Experimental and Cognitive Psychology, Polymorphism, Single Nucleotide, Music, Genome-Wide Association Study
Abstract

Moving in synchrony to the beat is a fundamental component of musicality. Here, we conducted a genome-wide association study (GWAS) to identify common genetic variants associated with beat synchronization in 606,825 individuals. Beat synchronization exhibited a highly polygenic architecture, with sixty-nine loci reaching genome-wide significance (p

Published
2022

11. Multi-Trait Genetic Analysis Identifies Autoimmune Loci Associated with Cutaneous Melanoma

Author

Liyanage, Upekha E., primary, MacGregor, Stuart, additional, Bishop, D. Timothy, additional, Shi, Jianxin, additional, An, Jiyuan, additional, Ong, Jue Sheng, additional, Han, Xikun, additional, Scolyer, Richard A., additional, Martin, Nicholas G., additional, Medland, Sarah E., additional, Byrne, Enda M., additional, Green, Adèle C., additional, Saw, Robyn P.M., additional, Thompson, John F., additional, Stretch, Jonathan, additional, Spillane, Andrew, additional, Jiang, Yunxuan, additional, Tian, Chao, additional, Gordon, Scott G., additional, Duffy, David L., additional, Olsen, Catherine M., additional, Whiteman, David C., additional, Long, Georgina V., additional, Iles, Mark M., additional, Landi, Maria Teresa, additional, Law, Matthew H., additional, Agee, Michelle, additional, Aslibekyan, Stella, additional, Auton, Adam, additional, Babalola, Elizabeth, additional, Bell, Robert K., additional, Bielenberg, Jessica, additional, Bryc, Katarzyna, additional, Bullis, Emily, additional, Cameron, Briana, additional, Coker, Daniella, additional, Cuellar Partida, Gabriel, additional, Dhamija, Devika, additional, Das, Sayantan, additional, Elson, Sarah L., additional, Filshtein, Teresa, additional, Fletez-Brant, Kipper, additional, Fontanillas, Pierre, additional, Freyman, Will, additional, Gandhi, Pooja M., additional, Heilbron, Karl, additional, Hicks, Barry, additional, Hinds, David A., additional, Huber, Karen E., additional, Jewett, Ethan M., additional, Kleinman, Aaron, additional, Kukar, Katelyn, additional, Lin, Keng-Han, additional, Lowe, Maya, additional, Luff, Marie K., additional, McCreight, Jennifer C., additional, McIntyre, Matthew H., additional, McManus, Kimberly F., additional, Micheletti, Steven J., additional, Moreno, Meghan E., additional, Mountain, Joanna L., additional, Mozaffari, Sahar V., additional, Nandakumar, Priyanka, additional, Noblin, Elizabeth S., additional, O'Connell, Jared, additional, Petrakovitz, Aaron A., additional, Poznik, G. David, additional, Shastri, Anjali J., additional, Shelton, Janie F., additional, Shi, Jingchunzi, additional, Shringarpure, Suyash, additional, Tran, Vinh, additional, Tung, Joyce Y., additional, Wang, Xin, additional, Wang, Wei, additional, Weldon, Catherine H., additional, and Wilton, Peter, additional

Published
2022
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13. FinnGen: Unique genetic insights from combining isolated population and national health register data

Author

Kurki, Mitja I., primary, Karjalainen, Juha, additional, Palta, Priit, additional, Sipilä, Timo P., additional, Kristiansson, Kati, additional, Donner, Kati, additional, Reeve, Mary P., additional, Laivuori, Hannele, additional, Aavikko, Mervi, additional, Kaunisto, Mari A., additional, Loukola, Anu, additional, Lahtela, Elisa, additional, Mattsson, Hannele, additional, Laiho, Päivi, additional, Della Briotta Parolo, Pietro, additional, Lehisto, Arto, additional, Kanai, Masahiro, additional, Mars, Nina, additional, Rämö, Joel, additional, Kiiskinen, Tuomo, additional, Heyne, Henrike O., additional, Veerapen, Kumar, additional, Rüeger, Sina, additional, Lemmelä, Susanna, additional, Zhou, Wei, additional, Ruotsalainen, Sanni, additional, Pärn, Kalle, additional, Hiekkalinna, Tero, additional, Koskelainen, Sami, additional, Paajanen, Teemu, additional, Llorens, Vincent, additional, Gracia-Tabuenca, Javier, additional, Siirtola, Harri, additional, Reis, Kadri, additional, Elnahas, Abdelrahman G., additional, Aalto-Setälä, Katriina, additional, Alasoo, Kaur, additional, Arvas, Mikko, additional, Auro, Kirsi, additional, Biswas, Shameek, additional, Bizaki-Vallaskangas, Argyro, additional, Carpen, Olli, additional, Chen, Chia-Yen, additional, Dada, Oluwaseun A., additional, Ding, Zhihao, additional, Ehm, Margaret G., additional, Eklund, Kari, additional, Färkkilä, Martti, additional, Finucane, Hilary, additional, Ganna, Andrea, additional, Ghazal, Awaisa, additional, Graham, Robert R., additional, Green, Eric, additional, Hakanen, Antti, additional, Hautalahti, Marco, additional, Hedman, Åsa, additional, Hiltunen, Mikko, additional, Hinttala, Reetta, additional, Hovatta, Iiris, additional, Hu, Xinli, additional, Huertas-Vazquez, Adriana, additional, Huilaja, Laura, additional, Hunkapiller, Julie, additional, Jacob, Howard, additional, Jensen, Jan-Nygaard, additional, Joensuu, Heikki, additional, John, Sally, additional, Julkunen, Valtteri, additional, Jung, Marc, additional, Junttila, Juhani, additional, Kaarniranta, Kai, additional, Kähönen, Mika, additional, Kajanne, Risto M., additional, Kallio, Lila, additional, Kälviäinen, Reetta, additional, Kaprio, Jaakko, additional, Kerimov, Nurlan, additional, Kettunen, Johannes, additional, Kilpeläinen, Elina, additional, Kilpi, Terhi, additional, Klinger, Katherine, additional, Kosma, Veli-Matti, additional, Kuopio, Teijo, additional, Kurra, Venla, additional, Laisk, Triin, additional, Laukkanen, Jari, additional, Lawless, Nathan, additional, Liu, Aoxing, additional, Longerich, Simonne, additional, Mägi, Reedik, additional, Mäkelä, Johanna, additional, Mäkitie, Antti, additional, Malarstig, Anders, additional, Mannermaa, Arto, additional, Maranville, Joseph, additional, Matakidou, Athena, additional, Meretoja, Tuomo, additional, Mozaffari, Sahar V., additional, Niemi, Mari EK., additional, Niemi, Marianna, additional, Niiranen, Teemu, additional, O’Donnell, Christopher J., additional, Obeidat, Ma’en, additional, Okafo, George, additional, Ollila, Hanna M., additional, Palomäki, Antti, additional, Palotie, Tuula, additional, Partanen, Jukka, additional, Paul, Dirk S., additional, Pelkonen, Margit, additional, Pendergrass, Rion K., additional, Petrovski, Slavé, additional, Pitkäranta, Anne, additional, Platt, Adam, additional, Pulford, David, additional, Punkka, Eero, additional, Pussinen, Pirkko, additional, Raghavan, Neha, additional, Rahimov, Fedik, additional, Rajpal, Deepak, additional, Renaud, Nicole A., additional, Riley-Gillis, Bridget, additional, Rodosthenous, Rodosthenis, additional, Saarentaus, Elmo, additional, Salminen, Aino, additional, Salminen, Eveliina, additional, Salomaa, Veikko, additional, Schleutker, Johanna, additional, Serpi, Raisa, additional, Shen, Huei-yi, additional, Siegel, Richard, additional, Silander, Kaisa, additional, Siltanen, Sanna, additional, Soini, Sirpa, additional, Soininen, Hilkka, additional, Sul, Jae H., additional, Tachmazidou, Ioanna, additional, Tasanen, Kaisa, additional, Tienari, Pentti, additional, Toppila-Salmi, Sanna, additional, Tukiainen, Taru, additional, Tuomi, Tiinamaija, additional, Turunen, Joni A., additional, Ulirsch, Jacob C., additional, Vaura, Felix, additional, Virolainen, Petri, additional, Waring, Jeffrey, additional, Waterworth, Dawn, additional, Yang, Robert, additional, Nelis, Mari, additional, Reigo, Anu, additional, Metspalu, Andres, additional, Milani, Lili, additional, Esko, Tõnu, additional, Fox, Caroline, additional, Havulinna, Aki S., additional, Perola, Markus, additional, Ripatti, Samuli, additional, Jalanko, Anu, additional, Laitinen, Tarja, additional, Mäkelä, Tomi, additional, Plenge, Robert, additional, McCarthy, Mark, additional, Runz, Heiko, additional, Daly, Mark J., additional, and Palotie, Aarno, additional

Published
2022
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14. Prevalence of Alpha-1 Antitrypsin Deficiency, Self-Reported Behavior Change, and Health Care Engagement Among Direct-to-Consumer Recipients of a Personalized Genetic Risk Report

Author

Ashenhurst, James R., primary, Nhan, Hoang, additional, Shelton, Janie F., additional, Wu, Shirley, additional, Tung, Joyce Y., additional, Elson, Sarah L., additional, Stoller, James K., additional, Agee, Michelle, additional, Aslibekyan, Stella, additional, Auton, Adam, additional, Babalola, Elizabeth, additional, Bell, Robert K., additional, Bielenberg, Jessica, additional, Bryc, Katarzyna, additional, Bullis, Emily, additional, Cameron, Briana, additional, Coker, Daniella, additional, Partida, Gabriel Cuellar, additional, Dhamija, Devika, additional, Das, Sayantan, additional, Filshtein, Teresa, additional, Fletez-Brant, Kipper, additional, Fontanillas, Pierre, additional, Freyman, Will, additional, Gandhi, Pooja M., additional, Heilbron, Karl, additional, Hicks, Barry, additional, Hinds, David A., additional, Huber, Karen E., additional, Jewett, Ethan M., additional, Jiang, Yunxuan, additional, Kleinman, Aaron, additional, Kukar, Katelyn, additional, Lane, Vanessa A., additional, Lin, Keng-Han, additional, Lowe, Maya, additional, Luff, Marie K., additional, McCreight, Jennifer C., additional, McIntyre, Matthew H., additional, McManus, Kimberly F., additional, Micheletti, Steven J., additional, Moreno, Meghan E., additional, Mountain, Joanna L., additional, Mozaffari, Sahar V., additional, Nandakumar, Priyanka, additional, Noblin, Elizabeth S., additional, O’Connell, Jared, additional, Petrakovitz, Aaron A., additional, Poznik, G. David, additional, Schumacher, Morgan, additional, Shastri, Anjali J., additional, Shi, Jingchunzi, additional, Shringarpure, Suyash, additional, Tian, Chao, additional, Tran, Vinh, additional, Wang, Xin, additional, Wang, Wei, additional, Weldon, Catherine H., additional, and Wilton, Peter, additional

Published
2022
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16. Author Correction: A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease

Author

Wightman, Douglas P., Jansen, Iris E., Savage, Jeanne E., Shadrin, Alexey A., Bahrami, Shahram, Holland, Dominic, Rongve, Arvid, Børte, Sigrid, Winsvold, Bendik S., Drange, Ole Kristian, Martinsen, Amy E., Skogholt, Anne Heidi, Willer, Cristen, Bråthen, Geir, Bosnes, Ingunn, Nielsen, Jonas Bille, Fritsche, Lars G., Thomas, Laurent F., Pedersen, Linda M., Gabrielsen, Maiken E., Johnsen, Marianne Bakke, Meisingset, Tore Wergeland, Zhou, Wei, Proitsi, Petroula, Hodges, Angela, Dobson, Richard, Velayudhan, Latha, Heilbron, Karl, Auton, Adam, Agee, Michelle, Aslibekyan, Stella, Babalola, Elizabeth, Bell, Robert K., Bielenberg, Jessica, Bryc, Katarzyna, Bullis, Emily, Cameron, Briana, Coker, Daniella, Partida, Gabriel Cuellar, Dhamija, Devika, Das, Sayantan, Elson, Sarah L., Filshtein, Teresa, Fletez-Brant, Kipper, Fontanillas, Pierre, Freyman, Will, Gandhi, Pooja M., Hicks, Barry, Hinds, David A., Huber, Karen E., Jewett, Ethan M., Jiang, Yunxuan, Kleinman, Aaron, Kukar, Katelyn, Lane, Vanessa, Lin, Keng-Han, Lowe, Maya, Luff, Marie K., McCreight, Jey C., McIntyre, Matthew H., McManus, Kimberly F., Micheletti, Steven J., Moreno, Meghan E., Mountain, Joanna L., Mozaffari, Sahar V., Nandakumar, Priyanka, Noblin, Elizabeth S., O’Connell, Jared, Petrakovitz, Aaron A., Poznik, G. David, Schumacher, Morgan, Shastri, Anjali J., Shelton, Janie F., Shi, Jingchunzi, Shringarpure, Suyash, Tian, Chao, Tran, Vinh, Tung, Joyce Y., Wang, Xin, Wang, Wei, Weldon, Catherine H., Wilton, Peter, Sealock, Julia M., Davis, Lea K., Pedersen, Nancy L., Reynolds, Chandra A., Karlsson, Ida K., Magnusson, Sigurdur, Stefansson, Hreinn, Thordardottir, Steinunn, Jonsson, Palmi V., Snaedal, Jon, Zettergren, Anna, Skoog, Ingmar, Kern, Silke, Waern, Margda, Zetterberg, Henrik, Blennow, Kaj, Stordal, Eystein, Hveem, Kristian, Zwart, John-Anker, Athanasiu, Lavinia, Selnes, Per, Saltvedt, Ingvild, Sando, Sigrid B., Ulstein, Ingun, Djurovic, Srdjan, Fladby, Tormod, Aarsland, Dag, Selbæk, Geir, Ripke, Stephan, Stefansson, Kari, Andreassen, Ole A., and Posthuma, Danielle

Subjects
Genetics, Published Erratum, MEDLINE, Genome-wide association study, Disease, Biology
Abstract

In the version of this Article initially published, the author list and affiliations were incomplete. Karl Heilbron and Adam Auton, both with 23andMe, Inc., have been added to the author list. Further, the location for the 23andMe Research Team, now reading “Sunnyvale, CA” initially appeared as Mountain View, CA. The changes have been made to the online version of the paper. *A list of authors and their affiliations appears online.

Published
2021

17. Genome-wide Study Identifies Association between HLA-B∗55:01 and Self-Reported Penicillin Allergy

Author

Krebs, Kristi, primary, Bovijn, Jonas, additional, Zheng, Neil, additional, Lepamets, Maarja, additional, Censin, Jenny C., additional, Jürgenson, Tuuli, additional, Särg, Dage, additional, Abner, Erik, additional, Laisk, Triin, additional, Luo, Yang, additional, Skotte, Line, additional, Geller, Frank, additional, Feenstra, Bjarke, additional, Wang, Wei, additional, Auton, Adam, additional, Raychaudhuri, Soumya, additional, Esko, Tõnu, additional, Metspalu, Andres, additional, Laur, Sven, additional, Roden, Dan M., additional, Wei, Wei-Qi, additional, Holmes, Michael V., additional, Lindgren, Cecilia M., additional, Phillips, Elizabeth J., additional, Mägi, Reedik, additional, Milani, Lili, additional, Fadista, João, additional, Agee, Michelle, additional, Aslibekyan, Stella, additional, Bell, Robert K., additional, Bryc, Katarzyna, additional, Clark, Sarah K., additional, Elson, Sarah L., additional, Fletez-Brant, Kipper, additional, Fontanillas, Pierre, additional, Furlotte, Nicholas A., additional, Gandhi, Pooja M., additional, Heilbron, Karl, additional, Hicks, Barry, additional, Hinds, David A., additional, Huber, Karen E., additional, Jewett, Ethan M., additional, Jiang, Yunxuan, additional, Kleinman, Aaron, additional, Lin, Keng-Han, additional, Litterman, Nadia K., additional, Luff, Marie K., additional, McCreight, Jennifer C., additional, McIntyre, Matthew H., additional, McManus, Kimberly F., additional, Mountain, Joanna L., additional, Mozaffari, Sahar V., additional, Nandakumar, Priyanka, additional, Noblin, Elizabeth S., additional, Northover, Carrie A.M., additional, O’Connell, Jared, additional, Petrakovitz, Aaron A., additional, Pitts, Steven J., additional, Poznik, G. David, additional, Sathirapongsasuti, J. Fah, additional, Shastri, Anjali J., additional, Shelton, Janie F., additional, Shringarpure, Suyash, additional, Tian, Chao, additional, Tung, Joyce Y., additional, Tunney, Robert J., additional, Vacic, Vladimir, additional, Wang, Xin, additional, and Zare, Amir S., additional

Published
2020
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18. Positive selection on human gamete-recognition genes

Author

Hart, Michael W., Stover, Daryn A., Guerra, Vanessa, Mozaffari, Sahar V., Ober, Carole, Mugal, Carina F., Kaj, Ingemar, Hart, Michael W., Stover, Daryn A., Guerra, Vanessa, Mozaffari, Sahar V., Ober, Carole, Mugal, Carina F., and Kaj, Ingemar

Abstract

Coevolution of genes that encode interacting proteins expressed on the surfaces of sperm and eggs can lead to variation in reproductive compatibility between mates and reproductive isolation between members of different species. Previous studies in mice and other mammals have focused in particular on evidence for positive or diversifying selection that shapes the evolution of genes that encode sperm-binding proteins expressed in the egg coat or zona pellucida (ZP). By fitting phylogenetic models of codon evolution to data from the 1000 Genomes Project, we identified candidate sites evolving under diversifying selection in the human genes ZP3 and ZP2. We also identified one candidate site under positive selection in C4BPA, which encodes a repetitive protein similar to the mouse protein ZP3R that is expressed in the sperm head and binds to the ZP at fertilization. Results from several additional analyses that applied population genetic models to the same data were consistent with the hypothesis of selection on those candidate sites leading to coevolution of sperm- and egg-expressed genes. By contrast, we found no candidate sites under selection in a fourth gene (ZP1) that encodes an egg coat structural protein not directly involved in sperm binding. Finally, we found that two of the candidate sites (in C4BPA and ZP2) were correlated with variation in family size and birth rate among Hutterite couples, and those two candidate sites were also in linkage disequilibrium in the same Hutterite study population. All of these lines of evidence are consistent with predictions from a previously proposed hypothesis of balancing selection on epistatic interactions between C4BPA and ZP3 at fertilization that lead to the evolution of co-adapted allele pairs. Such patterns also suggest specific molecular traits that may be associated with both natural reproductive variation and clinical infertility.

Published
2018
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24. A gene-based association method for mapping traits using reference transcriptome data.

Author

Carroll, Robert J, Denny, Joshua C, Wheeler, Heather E, Aquino-Michaels, Keston, Im, Hae Kyung, Mozaffari, Sahar V, Nicolae, Dan L, Gamazon, Eric R, Cox, Nancy J, Shah, Kaanan P, and Eyler, Anne E

Subjects
GENE mapping, GENETIC databases, GENE expression, RNA sequencing, PHENOTYPES
Abstract

Genome-wide association studies (GWAS) have identified thousands of variants robustly associated with complex traits. However, the biological mechanisms underlying these associations are, in general, not well understood. We propose a gene-based association method called PrediXcan that directly tests the molecular mechanisms through which genetic variation affects phenotype. The approach estimates the component of gene expression determined by an individual's genetic profile and correlates 'imputed' gene expression with the phenotype under investigation to identify genes involved in the etiology of the phenotype. Genetically regulated gene expression is estimated using whole-genome tissue-dependent prediction models trained with reference transcriptome data sets. PrediXcan enjoys the benefits of gene-based approaches such as reduced multiple-testing burden and a principled approach to the design of follow-up experiments. Our results demonstrate that PrediXcan can detect known and new genes associated with disease traits and provide insights into the mechanism of these associations. [ABSTRACT FROM AUTHOR]

Published
2015
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25. The Genetic Architecture of Depression in Individuals of East Asian Ancestry

Author

Giannakopoulou, Olga, Lin, Kuang, Meng, Xiangrui, Su, Mei-Hsin, Kuo, Po-Hsiu, Peterson, Roseann E., Awasthi, Swapnil, Moscati, Arden, Coleman, Jonathan R. I., Bass, Nick, Millwood, Iona Y., Chen, Yiping, Chen, Zhengming, Chen, Hsi-Chung, Lu, Mong-Liang, Huang, Ming-Chyi, Chen, Chun-Hsin, Stahl, Eli A., Loos, Ruth J. F., Mullins, Niamh, Ursano, Robert J., Kessler, Ronald C., Stein, Murray B., Sen, Srijan, Scott, Laura J., Burmeister, Margit, Fang, Yu, Tyrrell, Jess, Jiang, Yunxuan, Tian, Chao, McIntosh, Andrew M., Ripke, Stephan, Dunn, Erin C., Kendler, Kenneth S., Walters, Robin G., Lewis, Cathryn M., Kuchenbaecker, Karoline, Wray, Naomi R., Mattheisen, Manuel, Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Adams, Mark J., Agerbo, Esben, Air, Tracy M., Andlauer, Till F. M., Bacanu, Silviu-Alin, Bækvad-Hansen, Marie, Beekman, Aartjan T. F., Bigdeli, Tim B., Binder, Elisabeth B., Bryois, Julien, Buttenschøn, Henriette N., Bybjerg-Grauholm, Jonas, Cai, Na, Castelao, Enrique, Christensen, Jane Hvarregaard, Clarke, Toni-Kim, Colodro-Conde, Lucía, Coon, Hilary, Couvy-Duchesne, Baptiste, Craddock, Nick, Crawford, Gregory E., Davies, Gail, Deary, Ian J., Degenhardt, Franziska, Derks, Eske M., Direk, Nese, Dolan, Conor V., Eley, Thalia C., Escott-Price, Valentina, Kiadeh, Farnush Farhadi Hassan, Finucane, Hilary K., Foo, Jerome C., Forstner, Andreas J., Frank, Josef, Gaspar, Héléna A., Gill, Michael, Goes, Fernando S., Gordon, Scott D., Grove, Jakob, Hall, Lynsey S., Hansen, Christine Søholm, Hansen, Thomas F., Herms, Stefan, Hickie, Ian B., Hoffmann, Per, Homuth, Georg, Horn, Carsten, Hottenga, Jouke-Jan, Howard, David M., Hougaard, David M., Ising, Marcus, Jansen, Rick, Jones, Ian, Jones, Lisa A., Jorgenson, Eric, Knowles, James A., Kohane, Isaac S., Kraft, Julia, Kretzschmar, Warren W., Kutalik, Zoltán, Li, Yihan, Lind, Penelope A., Luykx, Jurjen J., MacIntyre, Donald J., MacKinnon, Dean F., Maier, Robert M., Maier, Wolfgang, Marchini, Jonathan, Mbarek, Hamdi, McGrath, Patrick, McGuffin, Peter, Medland, Sarah E., Mehta, Divya, Middeldorp, Christel M., Mihailov, Evelin, Milaneschi, Yuri, Milani, Lili, Mondimore, Francis M., Montgomery, Grant W., Mostafavi, Sara, Nauck, Matthias, Ng, Bernard, Nivard, Michel G., Nyholt, Dale R., O'Reilly, Paul F., Oskarsson, Hogni, Owen, Michael J., Painter, Jodie N., Pedersen, Carsten Bøcker, Pedersen, Marianne Giørtz, Pettersson, Erik, Peyrot, Wouter J., Pistis, Giorgio, Posthuma, Danielle, Quiroz, Jorge A., Qvist, Per, Rice, John P., Riley, Brien P., Rivera, Margarita, Mirza, Saira Saeed, Schoevers, Robert, Schulte, Eva C., Shen, Ling, Shi, Jianxin, Shyn, Stanley I., Sigurdsson, Engilbert, Sinnamon, Grant C. B., Smit, Johannes H., Smith, Daniel J., Stefansson, Hreinn, Steinberg, Stacy, Streit, Fabian, Strohmaier, Jana, Tansey, Katherine E., Teismann, Henning, Teumer, Alexander, Thompson, Wesley, Thompson, Pippa A., Thorgeirsson, Thorgeir E., Traylor, Matthew, Treutlein, Jens, Trubetskoy, Vassily, Uitterlinden, André G., Umbricht, Daniel, Van der Auwera, Sandra, van Hemert, Albert M., Viktorin, Alexander, Visscher, Peter M., Wang, Yunpeng, Webb, Bradley T., Weinsheimer, Shantel Marie, Wellmann, Jürgen, Willemsen, Gonneke, Witt, Stephanie H., Wu, Yang, Xi, Hualin S., Yang, Jian, Zhang, Futao, Arolt, Volker, Baune, Bernhard T, Berger, Klaus, Boomsma, Dorret I., Cichon, Sven, Dannlowski, Udo, de Geus, EJC, DePaulo, J. Raymond, Domenici, Enrico, Domschke, Katharina, Esko, Tõnu, Grabe, Hans J., Hamilton, Steven P., Hayward, Caroline, Heath, Andrew C., Kloiber, Stefan, Lewis, Glyn, Li, Qingqin S., Lucae, Susanne, Madden, Pamela AF, Magnusson, Patrik K., Martin, Nicholas G., Metspalu, Andres, Mors, Ole, Mortensen, Preben Bo, Müller-Myhsok, Bertram, Nordentoft, Merete, Nöthen, Markus M., O'Donovan, Michael C., Paciga, Sara A., Pedersen, Nancy L., Penninx, Brenda WJH, Perlis, Roy H., Porteous, David J., Potash, James B., Preisig, Martin, Rietschel, Marcella, Schaefer, Catherine, Schulze, Thomas G., Smoller, Jordan W., Stefansson, Kari, Tiemeier, Henning, Uher, Rudolf, Völzke, Henry, Weissman, Myrna M., Werge, Thomas, Levinson, Douglas F., Breen, Gerome, Børglum, Anders D., Sullivan, Patrick F., Agee, Michelle, Aslibekyan, Stella, Auton, Adam, Babalola, Elizabeth, Bell, Robert K., Bielenberg, Jessica, Bryc, Katarzyna, Bullis, Emily, Cameron, Briana, Coker, Daniella, Cuellar Partida, Gabriel, Dhamija, Devika, Das, Sayantan, Elson, Sarah L., Filshtein, Teresa, Fletez-Brant, Kipper, Fontanillas, Pierre, Freyman, Will, Gandhi, Pooja M., Heilbron, Karl, Hicks, Barry, Hinds, David A., Huber, Karen E., Jewett, Ethan M., Kleinman, Aaron, Kukar, Katelyn, Lane, Vanessa, Lin, Keng-Han, Lowe, Maya, Luff, Marie K., McCreight, Jennifer C., McIntyre, Matthew H., McManus, Kimberly F., Micheletti, Steven J., Moreno, Meghan E., Mountain, Joanna L., Mozaffari, Sahar V., Nandakumar, Priyanka, Noblin, Elizabeth S., O'Connell, Jared, Petrakovitz, Aaron A., Poznik, G. David, Schumacher, Morgan, Shastri, Anjali J., Shelton, Janie F., Shi, Jingchunzi, Shringarpure, Suyash, Tran, Vinh, Tung, Joyce Y., Wang, Xin, Wang, Wei, Weldon, Catherine H., Wilton, Peter, Avery, Daniel, Bennett, Derrick, Bian, Zheng, Boxall, Ruth, Bragg, Fiona, Chan, Ka Hung, Chang, Liang, Chang, Yumei, Chen, Biyun, Chen, Jinyan, Chen, Junshi, Chen, Naying, Chen, Ningyu, Chen, Xiaofang, Cheng, Liang, Clarke, Johnathan, Clarke, Robert, Collins, Rory, Dong, Caixia, Du, Huaidong, Du, Ranran, Fairhurst-Hunter, Zammy, Fan, Lei, Feng, Shixian, Fu, Zhongxi, Gan, Wei, Gao, Ruqin, Gao, Yulian, Ge, Pengfei, Gilbert, Simon, Gong, Weiwei, Gu, Qijun, Guo, Yu, Guo, Zhendong, Guo, Ziyan, Hacker, Alex, Han, Xiao, Hariri, Parisa, He, Pan, He, Tianyou, Hill, Mike, Holmes, Michael, Hou, Can, Hou, Wei, Hu, Chen, Hu, Ruying, Hu, Ximin, Hu, Yihe, Hua, Hua, Hua, Yujie, Huang, Yuelong, Im, Pek Kei, Iona, Andri, Jiang, Qilian, Jin, Jianrong, Kakkoura, Maria, Kang, Quan, Kartsonaki, Christiana, Kerosi, Rene, Kong, Ling, Lan, Jian, Lancaster, Garry, Li, Feifei, Li, Huimei, Li, Jianguo, Li, Liming, Li, Mingqiang, LI, Shanpeng, Li, Yanjie, Li, Yilei, Li, Zhongxiao, Lingli, Lingli, Liu, Chao, Liu, Depei, Liu, Duo, Liu, Fang, Liu, Huilin, Liu, Jiaqiu, Liu, Jingchao, Liu, Yongmei, Liu, Yun, Long, Huajun, Lu, Yan, Luo, Guojin, Lv, Jun, Lv, Silu, Ma, Liangcai, Mao, Enke, McDonnell, John, Meng, Fanwen, Meng, Jinhuai, Millwood, Iona, Nie, Qunhua, Ning, Feng, Pan, Dongxia, Pan, Rong, Pang, Zengchang, Pei, Pei, Peto, Richard, Pozarickij, Alfred, Qian, Yijian, Qin, Yulu, Qu, Chan, Ren, Xiaolan, Ryder, Paul, Sansome, Sam, Schmidt, Dan, Sherliker, Paul, Sohoni, Rajani, Stevens, Becky, Su, Jian, Sun, Huarong, Sun, Qiang, Sun, Xiaohui, Tang, Aiyu, Tang, Zhenzhu, Tao, Ran, Tian, Xiaocao, Turnbull, Iain, Walters, Robin, Wan, Meng, Wang, Chunmei, Wang, Chen, Wang, Hao, Wang, Junzheng, Wang, Lin, Wang, Ping, Wang, Tao, Wang, Shaojie, Wang, Sisi, Wang, Xiaohuan, Wei, Liuping, Weng, Min, Wright, Neil, Wu, Ming, Wu, Xianping, Wu, Shukuan, Xie, Kaixu, Xu, Qiaohua, Xu, Qinai, Xu, Xin, Yan, Shichun, Yang, Ling, Yang, Xiaoming, Yang, Jie, Yao, Pang, Yin, Li, Yu, Bo, Yu, Canqing, Yu, Min, Zhai, Yaoming, Zhang, Hao, Zhang, Hui, Zhang, Jun, Zhang, Libo, Zhang, Ningmei, Zhang, Xi, Zhang, Xiaoyi, Zhang, Xukui, Zhong, Xunfu, Zhou, Ding Zhang, Zhou, Gang, Zhou, Jinyi, Zhou, Liyuan, Zhou, Weiwei, Zhou, Xue, Zhou, Yonglin, and Zou, Mingyuan

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