@article{Clark2019, abstract = {AbstractIn 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 relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.}, author = {Clark, David W. and Okada, Yukinori and Moore, Kristjan H. S. and Mason, Dan and Pirastu, Nicola and Gandin, Ilaria and Mattsson, Hannele and Barnes, Catriona L. K. and Lin, Kuang and Zhao, Jing Hua and Deelen, Patrick and Rohde, Rebecca and Schurmann, Claudia and Guo, Xiuqing and Giulianini, Franco and Zhang, Weihua and Medina-Gomez, Carolina and Karlsson, Robert and Bao, Yanchun and Bartz, Traci M. and Baumbach, Clemens and Biino, Ginevra and Bixley, Matthew J. and Brumat, Marco and Chai, Jin-Fang and Corre, Tanguy and Cousminer, Diana L. and Dekker, Annelot M. and Eccles, David A. and van Eijk, Kristel R. and Fuchsberger, Christian and Gao, He and Germain, Marine and Gordon, Scott D. and de Haan, Hugoline G. and Harris, Sarah E. and Hofer, Edith and Huerta-Chagoya, Alicia and Igartua, Catherine and Jansen, Iris E. and Jia, Yucheng and Kacprowski, Tim and Karlsson, Torgny and Kleber, Marcus E. and Li, Shengchao Alfred and Li-Gao, Ruifang and Mahajan, Anubha and Matsuda, Koichi and Meidtner, Karina and Meng, Weihua and Montasser, May E. and van der Most, Peter J. and Munz, Matthias and Nutile, Teresa and Palviainen, Teemu and Prasad, Gauri and Prasad, Rashmi B. and Priyanka, Tallapragada Divya Sri and Rizzi, Federica and Salvi, Erika and Sapkota, Bishwa R. and Shriner, Daniel and Skotte, Line and Smart, Melissa C. and Smith, Albert Vernon and van der Spek, Ashley and Spracklen, Cassandra N. and Strawbridge, Rona J. and Tajuddin, Salman M. and Trompet, Stella and Turman, Constance and Verweij, Niek and Viberti, Clara and Wang, Lihua and Warren, Helen R. and Wootton, Robyn E. and Yanek, Lisa R. and Yao, Jie and Yousri, Noha A. and Zhao, Wei and Adeyemo, Adebowale A. and Afaq, Saima and Aguilar-Salinas, Carlos Alberto and Akiyama, Masato and Albert, Matthew L. and Allison, Matthew A. and Alver, Maris and Aung, Tin and Azizi, Fereidoun and Bentley, Amy R. and Boeing, Heiner and Boerwinkle, Eric and Borja, Judith B. and de Borst, Gert J. and Bottinger, Erwin P. and Broer, Linda and Campbell, Harry and Chanock, Stephen and Chee, Miao-Li and Chen, Guanjie and Chen, Yii-Der I. and Chen, Zhengming and Chiu, Yen-Feng and Cocca, Massimiliano and Collins, Francis S. and Concas, Maria Pina and Corley, Janie and Cugliari, Giovanni and van Dam, Rob M. and Damulina, Anna and Daneshpour, Maryam S. and Day, Felix R. and Delgado, Graciela E. and Dhana, Klodian and Doney, Alexander S. F. and Dörr, Marcus and Doumatey, Ayo P. and Dzimiri, Nduna and Ebenesersdóttir, S. Sunna and Elliott, Joshua and Elliott, Paul and Ewert, Ralf and Felix, Janine F. and Fischer, Krista and Freedman, Barry I. and Girotto, Giorgia and Goel, Anuj and Gögele, Martin and Goodarzi, Mark O. and Graff, Mariaelisa and Granot-Hershkovitz, Einat and Grodstein, Francine and Guarrera, Simonetta and Gudbjartsson, Daniel F. and Guity, Kamran and Gunnarsson, Bjarni and Guo, Yu and Hagenaars, Saskia P. and Haiman, Christopher A. and Halevy, Avner and Harris, Tamara B. and Hedayati, Mehdi and van Heel, David A. and Hirata, Makoto and Höfer, Imo and Hsiung, Chao Agnes and Huang, Jinyan and Hung, Yi-Jen and Ikram, M. Arfan and Jagadeesan, Anuradha and Jousilahti, Pekka and Kamatani, Yoichiro and Kanai, Masahiro and Kerrison, Nicola D. and Kessler, Thorsten and Khaw, Kay-Tee and Khor, Chiea Chuen and de Kleijn, Dominique P. V. and Koh, Woon-Puay and Kolcic, Ivana and Kraft, Peter and Krämer, Bernhard K. and Kutalik, Zoltán and Kuusisto, Johanna and Langenberg, Claudia and Launer, Lenore J. and Lawlor, Deborah A. and Lee, I.-Te and Lee, Wen-Jane and Lerch, Markus M. and Li, Liming and Liu, Jianjun and Loh, Marie and London, Stephanie J. and Loomis, Stephanie and Lu, Yingchang and Luan, Jian’an and Mägi, Reedik and Manichaikul, Ani W. and Manunta, Paolo and Másson, Gísli and Matoba, Nana and Mei, Xue W. and Meisinger, Christa and Meitinger, Thomas and Mezzavilla, Massimo and Milani, Lili and Millwood, Iona Y. and Momozawa, Yukihide and Moore, Amy and Morange, Pierre-Emmanuel and Moreno-Macías, Hortensia and Mori, Trevor A. and Morrison, Alanna C. and Muka, Taulant and Murakami, Yoshinori and Murray, Alison D. and de Mutsert, Renée and Mychaleckyj, Josyf C. and Nalls, Mike A. and Nauck, Matthias and Neville, Matt J. and Nolte, Ilja M. and Ong, Ken K. and Orozco, Lorena and Padmanabhan, Sandosh and Pálsson, Gunnar and Pankow, James S. and Pattaro, Cristian and Pattie, Alison and Polasek, Ozren and Poulter, Neil and Pramstaller, Peter P. and Quintana-Murci, Lluis and Räikkönen, Katri and Ralhan, Sarju and Rao, Dabeeru C. and van Rheenen, Wouter and Rich, Stephen S. and Ridker, Paul M. and Rietveld, Cornelius A. and Robino, Antonietta and van Rooij, Frank J. A. and Ruggiero, Daniela and Saba, Yasaman and Sabanayagam, Charumathi and Sabater-Lleal, Maria and Sala, Cinzia Felicita and Salomaa, Veikko and Sandow, Kevin and Schmidt, Helena and Scott, Laura J. and Scott, William R. and Sedaghati-Khayat, Bahareh and Sennblad, Bengt and van Setten, Jessica and Sever, Peter J. and Sheu, Wayne H.-H. and Shi, Yuan and Shrestha, Smeeta and Shukla, Sharvari Rahul and Sigurdsson, Jon K. and Sikka, Timo Tonis and Singh, Jai Rup and Smith, Blair H. and Stančáková, Alena and Stanton, Alice and Starr, John M. and Stefansdottir, Lilja and Straker, Leon and Sulem, Patrick and Sveinbjornsson, Gardar and Swertz, Morris A. and Taylor, Adele M. and Taylor, Kent D. and Terzikhan, Natalie and Tham, Yih-Chung and Thorleifsson, Gudmar and Thorsteinsdottir, Unnur and Tillander, Annika and Tracy, Russell P. and Tusié-Luna, Teresa and Tzoulaki, Ioanna and Vaccargiu, Simona and Vangipurapu, Jagadish and Veldink, Jan H. and Vitart, Veronique and Völker, Uwe and Vuoksimaa, Eero and Wakil, Salma M. and Waldenberger, Melanie and Wander, Gurpreet S. and Wang, Ya Xing and Wareham, Nicholas J. and Wild, Sarah and Yajnik, Chittaranjan S. and Yuan, Jian-Min and Zeng, Lingyao and Zhang, Liang and Zhou, Jie and Amin, Najaf and Asselbergs, Folkert W. and Bakker, Stephan J. L. and Becker, Diane M. and Lehne, Benjamin and Bennett, David A. and van den Berg, Leonard H. and Berndt, Sonja I. and Bharadwaj, Dwaipayan and Bielak, Lawrence F. and Bochud, Murielle and Boehnke, Mike and Bouchard, Claude and Bradfield, Jonathan P. and Brody, Jennifer A. and Campbell, Archie and Carmi, Shai and Caulfield, Mark J. and Cesarini, David and Chambers, John C. and Chandak, Giriraj Ratan and Cheng, Ching-Yu and Ciullo, Marina and Cornelis, Marilyn and Cusi, Daniele and Smith, George Davey and Deary, Ian J. and Dorajoo, Rajkumar and van Duijn, Cornelia M. and Ellinghaus, David and Erdmann, Jeanette and Eriksson, Johan G. and Evangelou, Evangelos and Evans, Michele K. and Faul, Jessica D. and Feenstra, Bjarke and Feitosa, Mary and Foisy, Sylvain and Franke, Andre and Friedlander, Yechiel and Gasparini, Paolo and Gieger, Christian and Gonzalez, Clicerio and Goyette, Philippe and Grant, Struan F. A. and Griffiths, Lyn R. and Groop, Leif and Gudnason, Vilmundur and Gyllensten, Ulf and Hakonarson, Hakon and Hamsten, Anders and van der Harst, Pim and Heng, Chew-Kiat and Hicks, Andrew A. and Hochner, Hagit and Huikuri, Heikki and Hunt, Steven C. and Jaddoe, Vincent W. V. and De Jager, Philip L. and Johannesson, Magnus and Johansson, Åsa and Jonas, Jost B. and Jukema, J. Wouter and Junttila, Juhani and Kaprio, Jaakko and Kardia, Sharon L. R. and Karpe, Fredrik and Kumari, Meena and Laakso, Markku and van der Laan, Sander W. and Lahti, Jari and Laudes, Matthias and Lea, Rodney A. and Lieb, Wolfgang and Lumley, Thomas and Martin, Nicholas G. and März, Winfried and Matullo, Giuseppe and McCarthy, Mark I. and Medland, Sarah E. and Merriman, Tony R. and Metspalu, Andres and Meyer, Brian F. and Mohlke, Karen L. and Montgomery, Grant W. and Mook-Kanamori, Dennis and Munroe, Patricia B. and North, Kari E. and Nyholt, Dale R. and O’connell, Jeffery R. and Ober, Carole and Oldehinkel, Albertine J. and Palmas, Walter and Palmer, Colin and Pasterkamp, Gerard G. and Patin, Etienne and Pennell, Craig E. and Perusse, Louis and Peyser, Patricia A. and Pirastu, Mario and Polderman, Tinca J. C. and Porteous, David J. and Posthuma, Danielle and Psaty, Bruce M. and Rioux, John D. and Rivadeneira, Fernando and Rotimi, Charles and Rotter, Jerome I. and Rudan, Igor and Den Ruijter, Hester M. and Sanghera, Dharambir K. and Sattar, Naveed and Schmidt, Reinhold and Schulze, Matthias B. and Schunkert, Heribert and Scott, Robert A. and Shuldiner, Alan R. and Sim, Xueling and Small, Neil and Smith, Jennifer A. and Sotoodehnia, Nona and Tai, E.-Shyong and Teumer, Alexander and Timpson, Nicholas J. and Toniolo, Daniela and Tregouet, David-Alexandre and Tuomi, Tiinamaija and Vollenweider, Peter and Wang, Carol A. and Weir, David R. and Whitfield, John B. and Wijmenga, Cisca and Wong, Tien-Yin and Wright, John and Yang, Jingyun and Yu, Lei and Zemel, Babette S. and Zonderman, Alan B. and Perola, Markus and Magnusson, Patrik K. E. and Uitterlinden, André G. and Kooner, Jaspal S. and Chasman, Daniel I. and Loos, Ruth J. F. and Franceschini, Nora and Franke, Lude and Haley, Chris S. and Hayward, Caroline and Walters, Robin G. and Perry, John R. B. and Esko, Tōnu and Helgason, Agnar and Stefansson, Kari and Joshi, Peter K. and Kubo, Michiaki and Wilson, James F.}, doi = {10.1038/s41467-019-12283-6}, journal = {Nature Communications}, month = {oct}, title = {Associations of autozygosity with a broad range of human phenotypes}, url = {https://www.nature.com/articles/s41467-019-12283-6.pdf}, volume = {10}, year = {2019} } @article{Cuellar-Partida2020, author = {Cuellar-Partida, Gabriel and Tung, Joyce Y. and Jy, Tung and Eriksson, Nicholas and Albrecht, Eva and Aliev, Fazil and Andreassen, Ole A. and Barroso, Inês and Oa, Andreassen and Beckmann, Jacques S. and de Geus, Eco J. C. and Boks, Marco P. and Js, Beckmann and Boomsma, Dorret I. and Mp, Boks and Boyd, Heather A. and Di, Boomsma and Breteler, Monique M. B. and Ha, Boyd and Campbell, Harry and Chasman, Daniel I. and Mmb, Breteler and Cherkas, Lynn F. and Davies, Gail and Di, Chasman and Lf, Cherkas and Deary, Ian J. and Jc, de Geus Eco and Deloukas, Panos and Dick, Danielle M. and Ij, Deary and Duffy, David L. and Eriksson, Johan G. and Dm, Dick and Dl, Duffy and Esko, Tõnu and Feenstra, Bjarke and Jg, Eriksson and Geller, Frank and Gieger, Christian and Giegling, Ina and Gordon, Scott D. and Han, Jiali and Hansen, Thomas F. and Sd, Gordon and Hartmann, Annette M. and Tf, Hansen and Hayward, Caroline and Am, Hartmann and Heikkilä, Kauko and Hicks, Andrew A. and Hirschhorn, Joel N. and Hottenga, Jouke-Jan and Jn, Hirschhorn and Huffman, Jennifer E. and Jj, Hottenga and Hwang, Liang-Dar and Ikram, M. Arfan and Je, Huffman and Kaprio, Jaakko and Ld, Hwang and Kemp, John P. and Khaw, Kay-Tee and Jp, Kemp and Klopp, Norman and Konte, Bettina and Kt, Khaw and Kutalik, Zoltan and Lahti, Jari and Li, Xin and van Duijn, Cornelia M. and Loos, Ruth J. F. and van Rooij, Frank J. A. and Luciano, Michelle and Rjf, Loos and Magnusson, Sigurdur H. and Mangino, Massimo and Sh, Magnusson and Marques-Vidal, Pedro and Martin, Nicholas G. and McArdle, Wendy L. and Ng, Martin and McCarthy, Mark I. and Zhao, Jing Hua and Wl, McArdle and Medina-Gomez, Carolina and Melbye, Mads and Mi, McCarthy and Melville, Scott A. and Metspalu, Andres and Milani, Lili and Sa, Melville and Mooser, Vincent and Nelis, Mari and Nyholt, Dale R. and Dr, Nyholt and O’Connell, Kevin S. and Ks, O'Connell and Ophoff, Roel A. and Palmer, Cameron and Ra, Ophoff and Palotie, Aarno and Palviainen, Teemu and Pare, Guillaume and Paternoster, Lavinia and Peltonen, Leena and Penninx, Brenda W. J. H. and Bwjh, Penninx and Polasek, Ozren and Pramstaller, Peter P. and Pp, Pramstaller and Prokopenko, Inga and Raikkonen, Katri and Ripatti, Samuli and Rivadeneira, Fernando and Rudan, Igor and Rujescu, Dan and Jh, Smit and Smit, Johannes H. and Gd, Smith and Smith, George Davey and Jw, Smoller and Smoller, Jordan W. and Soranzo, Nicole and Spector, Tim D. and Td, Spector and Bs, Pourcain and Pourcain, Beate St and Jm, Starr and Starr, John M. and Stefánsson, Hreinn and Steinberg, Stacy and Teder-Laving, Maris and Thorleifsson, Gudmar and Stefánsson, Kári and Nj, Timpson and Timpson, Nicholas J. and Ag, Uitterlinden and Uitterlinden, André G. and Cm, van Duijn and Fja, van Rooij and Jm, Vink and Vink, Jaqueline M. and Vollenweider, Peter and Vuoksimaa, Eero and Waeber, Gérard and Nj, Wareham and Wareham, Nicholas J. and Warrington, Nicole and Waterworth, Dawn and He, Wichmann and Werge, Thomas and Wichmann, H.-Erich and Widen, Elisabeth and Af, Wright and Willemsen, Gonneke and Mj, Wright and Wright, Alan F. and Wright, Margaret J. and Jh, Zhao and Xu, Mousheng and Da, Hinds and Kraft, Peter and Cm, Lindgren and Hinds, David A. and Magi, R. and Lindgren, Cecilia M. and Mägi, Reedik and Bm, Neale and Neale, Benjamin M. and Dm, Evans and Evans, David M. and Medland, Sarah E. and Se, Medland}, doi = {10.1038/s41562-020-00956-y}, journal = {Nature Human Behaviour}, month = {sep}, pages = {59-70}, title = {Genome-wide association study identifies 48 common genetic variants associated with handedness}, url = {https://www.nature.com/articles/s41562-020-00956-y.pdf}, volume = {5}, year = {2020} } @article{Forstner2017, abstract = {Bipolar disorder (BD) is a highly heritable neuropsychiatric disease characterized by recurrent episodes of mania and depression. BD shows substantial clinical and genetic overlap with other psychiatric disorders, in particular schizophrenia (SCZ). The genes underlying this etiological overlap remain largely unknown. A recent SCZ genome wide association study (GWAS) by the Psychiatric Genomics Consortium identified 128 independent genome-wide significant single nucleotide polymorphisms (SNPs). The present study investigated whether these SCZ-associated SNPs also contribute to BD development through the performance of association testing in a large BD GWAS dataset (9747 patients, 14278 controls). After re-imputation and correction for sample overlap, 22 of 107 investigated SCZ SNPs showed nominal association with BD. The number of shared SCZ-BD SNPs was significantly higher than expected (p = 1.46x10-8). This provides further evidence that SCZ-associated loci contribute to the development of BD. Two SNPs remained significant after Bonferroni correction. The most strongly associated SNP was located near TRANK1, which is a reported genome-wide significant risk gene for BD. Pathway analyses for all shared SCZ-BD SNPs revealed 25 nominally enriched gene-sets, which showed partial overlap in terms of the underlying genes. The enriched gene-sets included calcium- and glutamate signaling, neuropathic pain signaling in dorsal horn neurons, and calmodulin binding. The present data provide further insights into shared risk loci and disease-associated pathways for BD and SCZ. This may suggest new research directions for the treatment and prevention of these two major psychiatric disorders.}, author = {Forstner, Andreas Josef and Șerbanescu-Grigoroiu, Maria and Hecker, Julian and Hofmann, Andrea and Maaser, Anna and Reinbold, Céline S. and Mühleisen, Thomas W. and Leber, Markus and Strohmaier, Jana and Degenhardt, Franziska and Treutlein, Jens and Mattheisen, Manuel and Schumacher, Johannes and Streit, Fabian and Meier, Sandra and Herms, Stefan and Hoffmann, Per and Lacour, André and Witt, Stephanie H. and Reif, Andreas and Müller-Myhsok, Bertram and Lucae, Susanne and Maier, Wolfgang and Schwarz, Markus and Vedder, Helmut and Kammerer-Ciernioch, Jutta and Pfennig, Andrea and Bauer, Michael and Hautzinger, Martin and Moebus, Susanne and Schenk, Lorena M. and Fischer, Sascha B. and Sivalingam, Sugirthan and Czerski, Piotr M. and Hauser, Joanna and Lissowska, Jolanta and Szeszenia-Dabrowska, Neonila and Brennan, Paul and McKay, James D. and Wright, Adam and Mitchell, Philip B. and Fullerton, Janice M. and Schofield, Peter R. and Montgomery, Grant W. and Medland, Sarah E. and Gordon, Scott D. and Martin, Nicholas G. and Krasnov, Valery and Chuchalin, Alexander and Babadjanova, Gulja and Pantelejeva, Galina and Abramova, Lilia I. and Tiganov, Alexander S. and Polonikov, Alexey and Khusnutdinova, Elza and Alda, Martin and Cruceanu, Cristiana and Rouleau, Guy A. and Turecki, Gustavo and Laprise, Catherine and Rivas, Fabio and Mayoral, Fermin and Kogevinas, Manolis and Grigoroiu-Serbanescu, Maria and Becker, Tim and Schulze, Thomas G. and Rietschel, Marcella and Cichon, Sven and Fier, Heide and Nöthen, Markus Maria}, doi = {10.1371/journal.pone.0171595}, journal = {PLoS ONE}, month = {jan}, pages = {e0171595}, title = {Identification of shared risk loci and pathways for bipolar disorder and schizophrenia}, url = {https://doi.org/10.1371/journal.pone.0171595}, volume = {12}, year = {2017} } @article{Ip2021, abstract = {AbstractChildhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from multiple assessors were included. We analyzed phenotype assessments for a total of 328 935 observations from 87 485 children aged between 1.5 and 18 years, while accounting for sample overlap. We also meta-analyzed within subsets of the data, i.e., within rater, instrument and age. SNP-heritability for the overall meta-analysis (AGGoverall) was 3.31% (SE = 0.0038). We found no genome-wide significant SNPs for AGGoverall. The gene-based analysis returned three significant genes: ST3GAL3 (P = 1.6E–06), PCDH7 (P = 2.0E–06), and IPO13 (P = 2.5E–06). All three genes have previously been associated with educational traits. Polygenic scores based on our GWAMA significantly predicted aggression in a holdout sample of children (variance explained = 0.44%) and in retrospectively assessed childhood aggression (variance explained = 0.20%). Genetic correlations (rg) among rater-specific assessment of AGG ranged from rg = 0.46 between self- and teacher-assessment to rg = 0.81 between mother- and teacher-assessment. We obtained moderate-to-strong rgs with selected phenotypes from multiple domains, but hardly with any of the classical biomarkers thought to be associated with AGG. Significant genetic correlations were observed with most psychiatric and psychological traits (range $\left| {r_g} \right|$ r g : 0.19–1.00), except for obsessive-compulsive disorder. Aggression had a negative genetic correlation (rg = ~−0.5) with cognitive traits and age at first birth. Aggression was strongly genetically correlated with smoking phenotypes (range $\left| {r_g} \right|$ r g : 0.46–0.60). The genetic correlations between aggression and psychiatric disorders were weaker for teacher-reported AGG than for mother- and self-reported AGG. The current GWAMA of childhood aggression provides a powerful tool to interrogate the rater-specific genetic etiology of AGG.}, author = {Ip, Hill F. and van der Laan, Camiel M. and Krapohl, Eva M. L. and Sanchez-Mora, Cristina and Sánchez-Mora, Cristina and Nolte, Ilja M. and St Pourcain, Beate and Brikell, Isabell and Palviainen, Teemu and Zafarmand, Hadi and Zayats, Tetyana and Jiang, Chang and Colodro-Conde, Lucía and Wang, Carol A. and Saunders, Gretchen and Gordon, Scott and Karhunen, Ville and Hammerschlag, Anke R. and Peterson, Roseann E. and Prinz, Joseph A. and Thiering, Elisabeth and Seppälä, Ilkka and Vilor-Tejedor, Natàlia and Hottenga, Jouke-Jan and Rimfeld, Kaili and Lu, Yi and Day, Felix R. and Martin, Joanna and Soler Artigas, María and Rovira, Paula and Chen, Qi and Ramos Quiroga, Josep Antoni and Neumann, Alexander and Morosoli, José J. and Tong, Xiaoran and Español, Gemma and Marrington, Shelby and Middeldorp, Christel and Scott, James G. and Ensink, Judith and Vinkhuyzen, Anna and Shabalin, Andrey A. and Grasby, Katrina and Sugden, Karen and Van Beijsterveldt, Toos C. E. M. and Sass, Laerke and Vinding, Rebecca and Ruth, Kate and Corley, Robin and Tyrrell, Jess and Evans, Luke M. and Larsson, Henrik and Snieder, Harold and Verhulst, Frank C. and Davies, Gareth E. and Whipp, Alyce M. and Ehli, Erik A. and de Zeeuw, E. and Korhonen, Tellervo and van Beijsterveldt, T. C. E. M. and Vuoksimaa, Eero and Hagenbeek, Fiona A. and Rose, Richard J. and Uitterlinden, André G. and Heath, Andrew C. and Madden, Pamela and De Zeeuw, Eveline and Harris, Jennifer R. and Helgeland, Øyvind and Johansson, Stefan and Bolhuis, Koen and Knudsen, Gun Peggy S. and Njolstad, Pal Rasmus and Lu, Qing and Aliev, Fazil and Haavik, Jan and Rodriguez, Alina and Henders, Anjali K. and Mamun, Abdullah and Adkins, Daniel E. and Najman, Jackob M. and Border, Richard and Hopfer, Christian and Krauter, Kenneth and Reynolds, Chandra and Ahluwalia, Tarunveer S. and Smolen, Andrew and Stallings, Michael and Allegrini, Andrea G. and Brown, Sandy and Wadsworth, Sally and Wall, Tamara L. and Silberg, Judy L. and Miller, Allison and Keltikangas-Järvinen, Liisa and Bosch, Rosa and Jarvelin, Marjo-Riitta and Hakulinen, Christian and Pulkki-Råback, Laura and Havdahl, Alexandra and Magnus, Per and Raitakari, Olli T. and Perry, John R. B. and Alemany, Silvia and Llop, Sabrina and Lopez-Espinosa, Maria-Jose and Sunyer, Jordi and Bønnelykke, Klaus and Lehtimäki, Terho and Standl, Marie and Heinrich, Joachim and Amin, Najaf and Pearson, John and Horwood, L. John and Kennedy, Martin and Poulton, Richie and Maes, Hermine H. and Hewitt, John and Eaves, Lindon J. and Williams, Gail M. and Wray, Naomi and Copeland, William E. and Järvelin, Marjo-Riitta and Costello, Elizabeth J. and McGue, Matt and Iacono, William and Moffitt, Terrie E. and Whitehouse, Andrew and Caspi, Avshalom and Pennell, Craig E. and Klump, Kelly L. and Bisgaard, Hans and Reichborn-Kjennerud, Ted and Arseneault, Louise and Burt, S. Alexandra and Martin, Nicholas G. and Medland, Sarah E. and Dick, Danielle M. and Boden, Joseph and Vrijkotte, Tanja and Kaprio, Jaakko and Tiemeier, Henning and Hartman, Catharina A. and Davey Smith, George and Oldehinkel, Albertine J. and Ribasés, Marta and Casas, Miquel and Lichtenstein, Paul and Lundström, Sebastian and Plomin, Robert and Nivard, Michel G. and Bonnelykke, Klaus and Bartels, Meike and Boomsma, Dorret I.}, doi = {10.1038/s41398-021-01480-x}, journal = {Translational Psychiatry}, month = {jul}, title = {Genetic association study of childhood aggression across raters, instruments, and age}, url = {https://www.nature.com/articles/s41398-021-01480-x.pdf}, volume = {11}, year = {2021} } @article{Laisk2020, abstract = {AbstractMiscarriage is a common, complex trait affecting ~15% of clinically confirmed pregnancies. Here we present the results of large-scale genetic association analyses with 69,054 cases from five different ancestries for sporadic miscarriage, 750 cases of European ancestry for multiple (≥3) consecutive miscarriage, and up to 359,469 female controls. We identify one genome-wide significant association (rs146350366, minor allele frequency (MAF) 1.2%, P = 3.2 × 10−8, odds ratio (OR) = 1.4) for sporadic miscarriage in our European ancestry meta-analysis and three genome-wide significant associations for multiple consecutive miscarriage (rs7859844, MAF = 6.4%, P = 1.3 × 10−8, OR = 1.7; rs143445068, MAF = 0.8%, P = 5.2 × 10−9, OR = 3.4; rs183453668, MAF = 0.5%, P = 2.8 × 10−8, OR = 3.8). We further investigate the genetic architecture of miscarriage with biobank-scale Mendelian randomization, heritability, and genetic correlation analyses. Our results show that miscarriage etiopathogenesis is partly driven by genetic variation potentially related to placental biology, and illustrate the utility of large-scale biobank data for understanding this pregnancy complication.}, author = {Laisk, Triin and Soares, Ana Luiza G. and Ferreira, Teresa and Painter, Jodie N. and Censin, Jenny C. and Laber, Samantha and Bacelis, Jonas and Chen, Chia-Yen and Lepamets, Maarja and Lin, Kuang and Liu, Siyang and Millwood, Iona Y. and Ramu, Avinash and Southcombe, Jennifer and Andersen, Marianne S. and Yang, Ling and Becker, Christian M. and Børglum, Anders D. and Gordon, Scott D. and Bybjerg-Grauholm, Jonas and Helgeland, Øyvind and Hougaard, David M. and Jin, Xin and Johansson, Stefan and Juodakis, Julius and Kartsonaki, Christiana and Kukushkina, Viktorija and Lind, Penelope A. and Metspalu, Andres and Montgomery, Grant W. and Morris, Andrew P. and Mors, Ole and Mortensen, Preben B. and Njølstad, Pål R. and Nordentoft, Merete and Nyholt, Dale R. and Lippincott, Margaret and Seminara, Stephanie and Salumets, Andres and Snieder, Harold and Zondervan, Krina and Werge, Thomas and Chen, Zhengming and Conrad, Donald F. and Jacobsson, Bo and Li, Liming and Martin, Nicholas G. and Neale, Benjamin M. and Nielsen, Rasmus and Walters, Robin G. and Granne, Ingrid and Medland, Sarah E. and Mägi, Reedik and Lawlor, Deborah A. and Lindgren, Cecilia M.}, doi = {10.1038/s41467-020-19742-5}, journal = {Nature Communications}, month = {nov}, title = {The genetic architecture of sporadic and multiple consecutive miscarriage}, url = {https://www.nature.com/articles/s41467-020-19742-5.pdf}, volume = {11}, year = {2020} } @article{Nievergelt2019, abstract = {AbstractThe risk of posttraumatic stress disorder (PTSD) following trauma is heritable, but robust common variants have yet to be identified. In a multi-ethnic cohort including over 30,000 PTSD cases and 170,000 controls we conduct a genome-wide association study of PTSD. We demonstrate SNP-based heritability estimates of 5–20%, varying by sex. Three genome-wide significant loci are identified, 2 in European and 1 in African-ancestry analyses. Analyses stratified by sex implicate 3 additional loci in men. Along with other novel genes and non-coding RNAs, a Parkinson’s disease gene involved in dopamine regulation, PARK2, is associated with PTSD. Finally, we demonstrate that polygenic risk for PTSD is significantly predictive of re-experiencing symptoms in the Million Veteran Program dataset, although specific loci did not replicate. These results demonstrate the role of genetic variation in the biology of risk for PTSD and highlight the necessity of conducting sex-stratified analyses and expanding GWAS beyond European ancestry populations.}, author = {Nievergelt, Caroline M. and Maihofer, Adam X. and Klengel, Torsten and Atkinson, Elizabeth G. and Chen, Chia-Yen and Choi, Karmel W. and Coleman, Jonathan R. I. and Dalvie, Shareefa and Duncan, Laramie E. and Gelernter, Joel and Levey, Daniel F. and Logue, Mark W. and Polimanti, Renato and Provost, Allison C. and Ratanatharathorn, Andrew and Stein, Murray B. and Torres, Katy and Aiello, Allison E. and Almli, Lynn M. and Amstadter, Ananda B. and Andersen, Søren B. and Andreassen, Ole A. and Arbisi, Paul A. and Ashley-Koch, Allison E. and Austin, S. Bryn and Avdibegovic, Esmina and Babić, Dragan and Bækvad-Hansen, Marie and Baker, Dewleen G. and Beckham, Jean C. and Bierut, Laura J. and Bisson, Jonathan I. and Boks, Marco P. and Bolger, Elizabeth A. and Børglum, Anders D. and Bradley, Bekh and Brashear, Megan and Breen, Gerome and Bryant, Richard A. and Bustamante, Angela C. and Bybjerg-Grauholm, Jonas and Calabrese, Joseph R. and Caldas-De-Almeida, José M. and Dale, Anders M. and Daly, Mark J. and Daskalakis, Nikolaos P. and Deckert, Jürgen and Delahanty, Douglas L. and Dennis, Michelle F. and Disner, Seth G. and Domschke, Katharina and Dzubur-Kulenovic, Alma and Erbes, Christopher R. and Evans, Alexandra and Farrer, Lindsay A. and Feeny, Norah C. and Flory, Janine D. and Forbes, David and Franz, Carol E. and Galea, Sandro and Garrett, Melanie E. and Gelaye, Bizu and Geuze, Elbert and Gillespie, Charles and Uka, Aferdita Goci and Gordon, Scott D. and Guffanti, Guia and Hammamieh, Rasha and Harnal, Supriya and Hauser, Michael A. and Heath, Andrew C. and Hemmings, Sian M. J. and Hougaard, David Michael and Jakovljevic, Miro and Jett, Marti and Johnson, Eric Otto and Jones, Ian and Jovanovic, Tanja and Qin, Xue-Jun and Junglen, Angela G. and Karstoft, Karen-Inge and Kaufman, Milissa L. and Kessler, Ronald C. and Khan, Alaptagin and Kimbrel, Nathan A. and King, Anthony P. and Koen, Nastassja and Kranzler, Henry R. and Kremen, William S. and Lawford, Bruce R. and Lebois, Lauren A. M. and Lewis, Catrin E. and Linnstaedt, Sarah D. and Lori, Adriana and Lugonja, Bozo and Luykx, Jurjen J. and Lyons, Michael J. and Maples-Keller, Jessica and Marmar, Charles and Martin, Alicia R. and Martin, Nicholas G. and Maurer, Douglas and Mavissakalian, Matig R. and McFarlane, Alexander and McGlinchey, Regina E. and McLaughlin, Katie A. and McLean, Samuel A. and McLeay, Sarah and Mehta, Divya and Milberg, William P. and Miller, Mark W. and Morey, Rajendra A. and Morris, Charles Phillip and Mors, Ole and Mortensen, Preben B. and Neale, Benjamin M. and Nelson, Elliot C. and Nordentoft, Merete and Norman, Sonya B. and O’Donnell, Meaghan and Orcutt, Holly K. and Panizzon, Matthew S. and Peters, Edward S. and Peterson, Alan L. and Peverill, Matthew and Pietrzak, Robert H. and Polusny, Melissa A. and Rice, John P. and Ripke, Stephan and Risbrough, Victoria B. and Roberts, Andrea L. and Rothbaum, Alex O. and Rothbaum, Barbara O. and Roy-Byrne, Peter and Ruggiero, Ken and Rung, Ariane and Rutten, Bart P. F. and Saccone, Nancy L. and Sanchez, Sixto E. and Schijven, Dick and Seedat, Soraya and Seligowski, Antonia V. and Seng, Julia S. and Sheerin, Christina M. and Silove, Derrick and Smith, Alicia K. and Smoller, Jordan W. and Sponheim, Scott R. and Stein, Dan J. and Stevens, Jennifer S. and Sumner, Jennifer A. and Teicher, Martin H. and Thompson, Wesley K. and Trapido, Edward and Uddin, Monica and Ursano, Robert J. and van den Heuvel, Leigh Luella and Van Hooff, Miranda and Vermetten, Eric and Vinkers, Christiaan H. and Voisey, Joanne and Wang, Yunpeng and Wang, Zhewu and Werge, Thomas and Williams, Michelle A. and Williamson, Douglas E. and Winternitz, Sherry and Wolf, Christiane and Wolf, Erika J. and Wolff, Jonathan D. and Yehuda, Rachel and Young, Ross M.-C.-D. and Young, Keith A. and Zhao, Hongyu and Zoellner, Lori A. and Liberzon, Israel and Ressler, Kerry J. and Haas, Magali and Koenen, Karestan C.}, doi = {10.1038/s41467-019-12576-w}, journal = {Nature Communications}, month = {oct}, title = {International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci}, url = {https://www.nature.com/articles/s41467-019-12576-w.pdf}, volume = {10}, year = {2019} }