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1. Assessment and visualization of phenome-wide causal relationships using genetic data : an application to dental caries and periodontitis

Author: Haworth, Simon, Kho, Pik Fang, Lif Holgerson, Pernilla, Hwang, Liang-Dar, Timpson, Nicholas J., Renteria, Miguel E., Johansson, Ingegerd, Cuellar-Partida, Gabriel, Haworth, Simon, Kho, Pik Fang, Lif Holgerson, Pernilla, Hwang, Liang-Dar, Timpson, Nicholas J., Renteria, Miguel E., Johansson, Ingegerd, and Cuellar-Partida, Gabriel
Abstract: Hypothesis-free Mendelian randomization studies provide a way to assess the causal relevance of a trait across the human phenome but can be limited by statistical power, sample overlap or complicated by horizontal pleiotropy. The recently described latent causal variable (LCV) approach provides an alternative method for causal inference which might be useful in hypothesis-free experiments across human phenome. We developed an automated pipeline for phenome-wide tests using the LCV approach including steps to estimate partial genetic causality, filter to a meaningful set of estimates, apply correction for multiple testing and then present the findings in a graphical summary termed causal architecture plot. We apply this pipeline to body mass index (BMI) and lipid traits as exemplars of traits where there is strong prior expectation for causal effects, and to dental caries and periodontitis as exemplars of traits where there is a need for causal inference. The results for lipids and BMI suggest that these traits are best viewed as contributing factors on a multitude of traits and conditions, thus providing additional evidence that supports viewing these traits as targets for interventions to improve health. On the other hand, caries and periodontitis are best viewed as a downstream consequence of other traits and diseases rather than a cause of ill health. The automated pipeline is implemented in the Complex-Traits Genetics Virtual Lab (https:// vl.genoma.io) and results are available in. We propose causal architecture plots based on phenome-wide partial genetic causality estimates as a new way visualizing the overall causal map of the human phenome.
Published: 2021
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2. Genome-wide association study identifies 48 common genetic variants associated with handedness

Author: Cuellar-Partida, Gabriel, Tung, Joyce Y., Eriksson, Nicholas, Albrecht, Eva, Aliev, Fazil, Andreassen, Ole A., Barroso, Inês, Beckmann, Jacques S., Boks, Marco P., Boomsma, Dorret I., Boyd, Heather A., Breteler, Monique M.B., Campbell, Harry, Chasman, Daniel I., Cherkas, Lynn F., Davies, Gail, de Geus, Eco J.C., Deary, Ian J., Deloukas, Panos, Dick, Danielle M., Duffy, David L., Eriksson, Johan G., Esko, Tõnu, Feenstra, Bjarke, Geller, Frank, Gieger, Christian, Giegling, Ina, Gordon, Scott D., Han, Jiali, Hansen, Thomas F., Hartmann, Annette M., Hayward, Caroline, Heikkilä, Kauko, Hicks, Andrew A., Hirschhorn, Joel N., Hottenga, Jouke Jan, Huffman, Jennifer E., Hwang, Liang Dar, Ikram, M. Arfan, Kaprio, Jaakko, Kemp, John P., Khaw, Kay Tee, Klopp, Norman, Konte, Bettina, Kutalik, Zoltan, Lahti, Jari, Li, Xin, Loos, Ruth J.F., Luciano, Michelle, Magnusson, Sigurdur H., Mangino, Massimo, Marques-Vidal, Pedro, Martin, Nicholas G., McArdle, Wendy L., McCarthy, Mark I., Medina-Gomez, Carolina, Melbye, Mads, Melville, Scott A., Metspalu, Andres, Milani, Lili, Mooser, Vincent, Nelis, Mari, Nyholt, Dale R., O’Connell, Kevin S., Ophoff, Roel A., Palmer, Cameron, Palotie, Aarno, Palviainen, Teemu, Pare, Guillaume, Paternoster, Lavinia, Peltonen, Leena, Penninx, Brenda W.J.H., Polasek, Ozren, Pramstaller, Peter P., Prokopenko, Inga, Raikkonen, Katri, Ripatti, Samuli, Rivadeneira, Fernando, Rudan, Igor, Rujescu, Dan, Smit, Johannes H., Smith, George Davey, Smoller, Jordan W., Soranzo, Nicole, Spector, Tim D., Pourcain, Beate St, Starr, John M., Stefánsson, Hreinn, Steinberg, Stacy, Teder-Laving, Maris, Thorleifsson, Gudmar, Stefánsson, Kári, Timpson, Nicholas J., Uitterlinden, André G., van Duijn, Cornelia M., van Rooij, Frank J.A., Vink, Jaqueline M., Vollenweider, Peter, Vuoksimaa, Eero, Waeber, Gérard, Wareham, Nicholas J., Warrington, Nicole, Waterworth, Dawn, Werge, Thomas, Wichmann, H. Erich, Widen, Elisabeth, Willemsen, Gonneke, Wright, Alan F., Wright, Margaret J., Xu, Mousheng, Zhao, Jing Hua, Kraft, Peter, Hinds, David A., Lindgren, Cecilia M., Mägi, Reedik, Neale, Benjamin M., Evans, David M., Medland, Sarah E., Cuellar-Partida, Gabriel, Tung, Joyce Y., Eriksson, Nicholas, Albrecht, Eva, Aliev, Fazil, Andreassen, Ole A., Barroso, Inês, Beckmann, Jacques S., Boks, Marco P., Boomsma, Dorret I., Boyd, Heather A., Breteler, Monique M.B., Campbell, Harry, Chasman, Daniel I., Cherkas, Lynn F., Davies, Gail, de Geus, Eco J.C., Deary, Ian J., Deloukas, Panos, Dick, Danielle M., Duffy, David L., Eriksson, Johan G., Esko, Tõnu, Feenstra, Bjarke, Geller, Frank, Gieger, Christian, Giegling, Ina, Gordon, Scott D., Han, Jiali, Hansen, Thomas F., Hartmann, Annette M., Hayward, Caroline, Heikkilä, Kauko, Hicks, Andrew A., Hirschhorn, Joel N., Hottenga, Jouke Jan, Huffman, Jennifer E., Hwang, Liang Dar, Ikram, M. Arfan, Kaprio, Jaakko, Kemp, John P., Khaw, Kay Tee, Klopp, Norman, Konte, Bettina, Kutalik, Zoltan, Lahti, Jari, Li, Xin, Loos, Ruth J.F., Luciano, Michelle, Magnusson, Sigurdur H., Mangino, Massimo, Marques-Vidal, Pedro, Martin, Nicholas G., McArdle, Wendy L., McCarthy, Mark I., Medina-Gomez, Carolina, Melbye, Mads, Melville, Scott A., Metspalu, Andres, Milani, Lili, Mooser, Vincent, Nelis, Mari, Nyholt, Dale R., O’Connell, Kevin S., Ophoff, Roel A., Palmer, Cameron, Palotie, Aarno, Palviainen, Teemu, Pare, Guillaume, Paternoster, Lavinia, Peltonen, Leena, Penninx, Brenda W.J.H., Polasek, Ozren, Pramstaller, Peter P., Prokopenko, Inga, Raikkonen, Katri, Ripatti, Samuli, Rivadeneira, Fernando, Rudan, Igor, Rujescu, Dan, Smit, Johannes H., Smith, George Davey, Smoller, Jordan W., Soranzo, Nicole, Spector, Tim D., Pourcain, Beate St, Starr, John M., Stefánsson, Hreinn, Steinberg, Stacy, Teder-Laving, Maris, Thorleifsson, Gudmar, Stefánsson, Kári, Timpson, Nicholas J., Uitterlinden, André G., van Duijn, Cornelia M., van Rooij, Frank J.A., Vink, Jaqueline M., Vollenweider, Peter, Vuoksimaa, Eero, Waeber, Gérard, Wareham, Nicholas J., Warrington, Nicole, Waterworth, Dawn, Werge, Thomas, Wichmann, H. Erich, Widen, Elisabeth, Willemsen, Gonneke, Wright, Alan F., Wright, Margaret J., Xu, Mousheng, Zhao, Jing Hua, Kraft, Peter, Hinds, David A., Lindgren, Cecilia M., Mägi, Reedik, Neale, Benjamin M., Evans, David M., and Medland, Sarah E.
Abstract: Handedness has been extensively studied because of its relationship with language and the over-representation of left-handers in some neurodevelopmental disorders. Using data from the UK Biobank, 23andMe and the International Handedness Consortium, we conducted a genome-wide association meta-analysis of handedness (N = 1,766,671). We found 41 loci associated (P < 5 × 10−8) with left-handedness and 7 associated with ambidexterity. Tissue-enrichment analysis implicated the CNS in the aetiology of handedness. Pathways including regulation of microtubules and brain morphology were also highlighted. We found suggestive positive genetic correlations between left-handedness and neuropsychiatric traits, including schizophrenia and bipolar disorder. Furthermore, the genetic correlation between left-handedness and ambidexterity is low (rG = 0.26), which implies that these traits are largely influenced by different genetic mechanisms. Our findings suggest that handedness is highly polygenic and that the genetic variants that predispose to left-handedness may underlie part of the association with some psychiatric disorders.
Published: 2021
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3. Genome-wide association study identifies 48 common genetic variants associated with handedness

Author: Cuellar-Partida, Gabriel, Tung, Joyce Y., Eriksson, Nicholas, Albrecht, Eva, Aliev, Fazil, Andreassen, Ole A., Barroso, Inês, Beckmann, Jacques S., Boks, Marco P., Boomsma, Dorret I., Boyd, Heather A., Breteler, Monique M.B., Campbell, Harry, Chasman, Daniel I., Cherkas, Lynn F., Davies, Gail, de Geus, Eco J.C., Deary, Ian J., Deloukas, Panos, Dick, Danielle M., Duffy, David L., Eriksson, Johan G., Esko, Tõnu, Feenstra, Bjarke, Geller, Frank, Gieger, Christian, Giegling, Ina, Gordon, Scott D., Han, Jiali, Hansen, Thomas F., Hartmann, Annette M., Hayward, Caroline, Heikkilä, Kauko, Hicks, Andrew A., Hirschhorn, Joel N., Hottenga, Jouke Jan, Huffman, Jennifer E., Hwang, Liang Dar, Ikram, M. Arfan, Kaprio, Jaakko, Kemp, John P., Khaw, Kay Tee, Klopp, Norman, Konte, Bettina, Kutalik, Zoltan, Lahti, Jari, Li, Xin, Loos, Ruth J.F., Luciano, Michelle, Magnusson, Sigurdur H., Mangino, Massimo, Marques-Vidal, Pedro, Martin, Nicholas G., McArdle, Wendy L., McCarthy, Mark I., Medina-Gomez, Carolina, Melbye, Mads, Melville, Scott A., Metspalu, Andres, Milani, Lili, Mooser, Vincent, Nelis, Mari, Nyholt, Dale R., O’Connell, Kevin S., Ophoff, Roel A., Palmer, Cameron, Palotie, Aarno, Palviainen, Teemu, Pare, Guillaume, Paternoster, Lavinia, Peltonen, Leena, Penninx, Brenda W.J.H., Polasek, Ozren, Pramstaller, Peter P., Prokopenko, Inga, Raikkonen, Katri, Ripatti, Samuli, Rivadeneira, Fernando, Rudan, Igor, Rujescu, Dan, Smit, Johannes H., Smith, George Davey, Smoller, Jordan W., Soranzo, Nicole, Spector, Tim D., Pourcain, Beate St, Starr, John M., Stefánsson, Hreinn, Steinberg, Stacy, Teder-Laving, Maris, Thorleifsson, Gudmar, Stefánsson, Kári, Timpson, Nicholas J., Uitterlinden, André G., van Duijn, Cornelia M., van Rooij, Frank J.A., Vink, Jaqueline M., Vollenweider, Peter, Vuoksimaa, Eero, Waeber, Gérard, Wareham, Nicholas J., Warrington, Nicole, Waterworth, Dawn, Werge, Thomas, Wichmann, H. Erich, Widen, Elisabeth, Willemsen, Gonneke, Wright, Alan F., Wright, Margaret J., Xu, Mousheng, Zhao, Jing Hua, Kraft, Peter, Hinds, David A., Lindgren, Cecilia M., Mägi, Reedik, Neale, Benjamin M., Evans, David M., Medland, Sarah E., Cuellar-Partida, Gabriel, Tung, Joyce Y., Eriksson, Nicholas, Albrecht, Eva, Aliev, Fazil, Andreassen, Ole A., Barroso, Inês, Beckmann, Jacques S., Boks, Marco P., Boomsma, Dorret I., Boyd, Heather A., Breteler, Monique M.B., Campbell, Harry, Chasman, Daniel I., Cherkas, Lynn F., Davies, Gail, de Geus, Eco J.C., Deary, Ian J., Deloukas, Panos, Dick, Danielle M., Duffy, David L., Eriksson, Johan G., Esko, Tõnu, Feenstra, Bjarke, Geller, Frank, Gieger, Christian, Giegling, Ina, Gordon, Scott D., Han, Jiali, Hansen, Thomas F., Hartmann, Annette M., Hayward, Caroline, Heikkilä, Kauko, Hicks, Andrew A., Hirschhorn, Joel N., Hottenga, Jouke Jan, Huffman, Jennifer E., Hwang, Liang Dar, Ikram, M. Arfan, Kaprio, Jaakko, Kemp, John P., Khaw, Kay Tee, Klopp, Norman, Konte, Bettina, Kutalik, Zoltan, Lahti, Jari, Li, Xin, Loos, Ruth J.F., Luciano, Michelle, Magnusson, Sigurdur H., Mangino, Massimo, Marques-Vidal, Pedro, Martin, Nicholas G., McArdle, Wendy L., McCarthy, Mark I., Medina-Gomez, Carolina, Melbye, Mads, Melville, Scott A., Metspalu, Andres, Milani, Lili, Mooser, Vincent, Nelis, Mari, Nyholt, Dale R., O’Connell, Kevin S., Ophoff, Roel A., Palmer, Cameron, Palotie, Aarno, Palviainen, Teemu, Pare, Guillaume, Paternoster, Lavinia, Peltonen, Leena, Penninx, Brenda W.J.H., Polasek, Ozren, Pramstaller, Peter P., Prokopenko, Inga, Raikkonen, Katri, Ripatti, Samuli, Rivadeneira, Fernando, Rudan, Igor, Rujescu, Dan, Smit, Johannes H., Smith, George Davey, Smoller, Jordan W., Soranzo, Nicole, Spector, Tim D., Pourcain, Beate St, Starr, John M., Stefánsson, Hreinn, Steinberg, Stacy, Teder-Laving, Maris, Thorleifsson, Gudmar, Stefánsson, Kári, Timpson, Nicholas J., Uitterlinden, André G., van Duijn, Cornelia M., van Rooij, Frank J.A., Vink, Jaqueline M., Vollenweider, Peter, Vuoksimaa, Eero, Waeber, Gérard, Wareham, Nicholas J., Warrington, Nicole, Waterworth, Dawn, Werge, Thomas, Wichmann, H. Erich, Widen, Elisabeth, Willemsen, Gonneke, Wright, Alan F., Wright, Margaret J., Xu, Mousheng, Zhao, Jing Hua, Kraft, Peter, Hinds, David A., Lindgren, Cecilia M., Mägi, Reedik, Neale, Benjamin M., Evans, David M., and Medland, Sarah E.
Abstract: Handedness has been extensively studied because of its relationship with language and the over-representation of left-handers in some neurodevelopmental disorders. Using data from the UK Biobank, 23andMe and the International Handedness Consortium, we conducted a genome-wide association meta-analysis of handedness (N = 1,766,671). We found 41 loci associated (P < 5 × 10−8) with left-handedness and 7 associated with ambidexterity. Tissue-enrichment analysis implicated the CNS in the aetiology of handedness. Pathways including regulation of microtubules and brain morphology were also highlighted. We found suggestive positive genetic correlations between left-handedness and neuropsychiatric traits, including schizophrenia and bipolar disorder. Furthermore, the genetic correlation between left-handedness and ambidexterity is low (rG = 0.26), which implies that these traits are largely influenced by different genetic mechanisms. Our findings suggest that handedness is highly polygenic and that the genetic variants that predispose to left-handedness may underlie part of the association with some psychiatric disorders.
Published: 2021

4. The Augmented Classical Twin Design: Incorporating Genome‐Wide Identity by Descent Sharing Into Twin Studies in Order to Model Violations of the Equal Environments Assumption

Author: Hwang, Liang Dar, Mitchell, Brittany L., Medland, Sarah E., Martin, Nicholas G., Neale, Michael C., Evans, David M., Hwang, Liang Dar, Mitchell, Brittany L., Medland, Sarah E., Martin, Nicholas G., Neale, Michael C., and Evans, David M.
Abstract: The Classical Twin Method (CTM) compares the similarity of monozygotic (MZ) twins with that of dizygotic (DZ) twins to make inferences about the relative importance of genes and environment in the etiology of individual differences. The design has been applied to thousands of traits across the biomedical, behavioral and social sciences and is arguably the most widely used natural experiment known to science. The fundamental assumption of the CTM is that trait relevant environmental covariation within MZ pairs is the same as that found within DZ pairs, so that zygosity differences in within-pair variance must be due to genetic factors uncontaminated by the environment. This equal environments assumption (EEA) has been, and still is hotly contested, and has been mentioned as a possible contributing factor to the missing heritability conundrum. In this manuscript, we introduce a new model for testing the EEA, which we call the Augmented Classical Twin Design which uses identity by descent (IBD) sharing between DZ twin pairs to estimate separate environmental variance components for MZ and DZ twin pairs, and provides a test of whether these are equal. We show through simulation that given large samples of DZ twin pairs, the model provides unbiased estimates of variance components and valid tests of the EEA under strong assumptions (e.g. no epistatic variance, IBD sharing in DZ twins estimated accurately etc.) which may not hold in reality. Sample sizes in excess of 50,000 DZ twin pairs with genome-wide genetic data are likely to be required in order to detect substantial violations of the EEA with moderate power. Consequently, we recommend that the Augmented Classical Twin Design only be applied to datasets with very large numbers of DZ twin pairs (> 50,000 DZ twin pairs), and given the strong assumptions relating to the absence of epistatic variance, appropriate caution be exercised regarding interpretation of the results.
Published: 2021

5. Corrigendum to: More Than Smell-COVID-19 Is Associated With Severe Impairment of Smell, Taste, and Chemesthesis.

Author: UCL - SSS/IONS - Institute of NeuroScience, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service d'oto-rhino-laryngologie, Parma, Valentina, Ohla, Kathrin, Veldhuizen, Maria G, Niv, Masha Y, Kelly, Christine E, Bakke, Alyssa J, Cooper, Keiland W, Bouysset, Cédric, Pirastu, Nicola, Dibattista, Michele, Kaur, Rishemjit, Liuzza, Marco Tullio, Pepino, Marta Y, Schöpf, Veronika, Pereda-Loth, Veronica, Olsson, Shannon B, Gerkin, Richard C, Rohlfs Domínguez, Paloma, Albayay, Javier, Farruggia, Michael C, Bhutani, Surabhi, Fjaeldstad, Alexander W, Kumar, Ritesh, Menini, Anna, Bensafi, Moustafa, Sandell, Mari, Konstantinidis, Iordanis, Di Pizio, Antonella, Genovese, Federica, Öztürk, Lina, Thomas-Danguin, Thierry, Frasnelli, Johannes, Boesveldt, Sanne, Saatci, Özlem, Saraiva, Luis R, Lin, Cailu, Golebiowski, Jérôme, Hwang, Liang-Dar, Ozdener, Mehmet Hakan, Guàrdia, Maria Dolors, Laudamiel, Christophe, Ritchie, Marina, Havlícek, Jan, Pierron, Denis, Roura, Eugeni, Navarro, Marta, Nolden, Alissa A, Lim, Juyun, Whitcroft, Katherine L, Colquitt, Lauren R, Ferdenzi, Camille, Brindha, Evelyn V, Altundag, Aytug, Macchi, Alberto, Nunez-Parra, Alexia, Patel, Zara M, Fiorucci, Sébastien, Philpott, Carl M, Smith, Barry C, Lundström, Johan N, Mucignat, Carla, Parker, Jane K, van den Brink, Mirjam, Schmuker, Michael, Fischmeister, Florian Ph S, Heinbockel, Thomas, Shields, Vonnie D C, Faraji, Farhoud, Santamaría, Enrique, Fredborg, William E A, Morini, Gabriella, Olofsson, Jonas K, Jalessi, Maryam, Karni, Noam, D'Errico, Anna, Alizadeh, Rafieh, Pellegrino, Robert, Meyer, Pablo, Huart, Caroline, Chen, Ben, Soler, Graciela M, Alwashahi, Mohammed K, Welge-Lüssen, Antje, Freiherr, Jessica, de Groot, Jasper H B, Klein, Hadar, Okamoto, Masako, Singh, Preet Bano, Hsieh, Julien W, GCCR Group Author, Reed, Danielle R, Hummel, Thomas, Munger, Steven D, Hayes, John E, UCL - SSS/IONS - Institute of NeuroScience, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service d'oto-rhino-laryngologie, Parma, Valentina, Ohla, Kathrin, Veldhuizen, Maria G, Niv, Masha Y, Kelly, Christine E, Bakke, Alyssa J, Cooper, Keiland W, Bouysset, Cédric, Pirastu, Nicola, Dibattista, Michele, Kaur, Rishemjit, Liuzza, Marco Tullio, Pepino, Marta Y, Schöpf, Veronika, Pereda-Loth, Veronica, Olsson, Shannon B, Gerkin, Richard C, Rohlfs Domínguez, Paloma, Albayay, Javier, Farruggia, Michael C, Bhutani, Surabhi, Fjaeldstad, Alexander W, Kumar, Ritesh, Menini, Anna, Bensafi, Moustafa, Sandell, Mari, Konstantinidis, Iordanis, Di Pizio, Antonella, Genovese, Federica, Öztürk, Lina, Thomas-Danguin, Thierry, Frasnelli, Johannes, Boesveldt, Sanne, Saatci, Özlem, Saraiva, Luis R, Lin, Cailu, Golebiowski, Jérôme, Hwang, Liang-Dar, Ozdener, Mehmet Hakan, Guàrdia, Maria Dolors, Laudamiel, Christophe, Ritchie, Marina, Havlícek, Jan, Pierron, Denis, Roura, Eugeni, Navarro, Marta, Nolden, Alissa A, Lim, Juyun, Whitcroft, Katherine L, Colquitt, Lauren R, Ferdenzi, Camille, Brindha, Evelyn V, Altundag, Aytug, Macchi, Alberto, Nunez-Parra, Alexia, Patel, Zara M, Fiorucci, Sébastien, Philpott, Carl M, Smith, Barry C, Lundström, Johan N, Mucignat, Carla, Parker, Jane K, van den Brink, Mirjam, Schmuker, Michael, Fischmeister, Florian Ph S, Heinbockel, Thomas, Shields, Vonnie D C, Faraji, Farhoud, Santamaría, Enrique, Fredborg, William E A, Morini, Gabriella, Olofsson, Jonas K, Jalessi, Maryam, Karni, Noam, D'Errico, Anna, Alizadeh, Rafieh, Pellegrino, Robert, Meyer, Pablo, Huart, Caroline, Chen, Ben, Soler, Graciela M, Alwashahi, Mohammed K, Welge-Lüssen, Antje, Freiherr, Jessica, de Groot, Jasper H B, Klein, Hadar, Okamoto, Masako, Singh, Preet Bano, Hsieh, Julien W, GCCR Group Author, Reed, Danielle R, Hummel, Thomas, Munger, Steven D, and Hayes, John E
Abstract: This is a correction notice for article bjaa041 (DOI: https://doi.org/10.1093/chemse/bjaa041), published 20 June 2020. An incorrect version of the caption to Figure 5 was mistakenly included in the published paper. An updated version is given below. Neither the data nor the paper’s conclusions were affected by this correction. The authors sincerely apologize for the error.
Published: 2021

6. Recent Smell Loss Is the Best Predictor of COVID-19 Among Individuals With Recent Respiratory Symptoms

Author: Gerkin, Richard C., Ohla, Kathrin, Veldhuizen, Maria G., Joseph, Paule, Kelly, Christine E., Bakke, Alyssa J., Steele, Kimberley E., Farruggia, Michael C., Pellegrino, Robert, Pepino, Marta Y., Bouysset, Cedric, Soler, Graciela M., Pereda-Loth, Veronica, Dibattista, Michele, Cooper, Keiland W., Croijmans, Ilja, Di Pizio, Antonella, Ozdener, Mehmet Hakan, Fjaeldstad, Alexander W., Lin, Cailu, Sandell, Mari A., Singh, Preet B., Brindha, V. Evelyn, Olsson, Shannon B., Saraiva, Luis R., Ahuja, Gaurav, Alwashahi, Mohammed K., Bhutani, Surabhi, D'Errico, Anna, Fornazieri, Marco A., Golebiowski, Jerome, Hwang, Liang Dar, Ozturk, Lina, Roura, Eugeni, Spinelli, Sara, Whitcroft, Katherine L., Faraji, Farhoud, Fischmeister, Florian Ph S., Heinbockel, Thomas, Hsieh, Julien W., Huart, Caroline, Konstantinidis, Iordanis, Menini, Anna, Morini, Gabriella, Olofsson, Jonas K., Philpott, Carl M., Pierron, Denis, Shields, Vonnie D. C., Voznessenskaya, Vera V., Albayay, Javier, Altundag, Aytug, Bensafi, Moustafa, Bock, Maria Adelaida, Calcinoni, Orietta, Fredborg, William, Laudamiel, Christophe, Lim, Juyun, Lundstrom, Johan N., Macchi, Alberto, Meyer, Pablo, Moein, Shima T., Santamaria, Enrique, Sengupta, Debarka, Dominguez, Paloma Rohlfs, Yanik, Huseyin, Hummel, Thomas, Hayes, John E., Reed, Danielle R., Niv, Masha Y., Munger, Steven D., Parma, Valentina, Gerkin, Richard C., Ohla, Kathrin, Veldhuizen, Maria G., Joseph, Paule, Kelly, Christine E., Bakke, Alyssa J., Steele, Kimberley E., Farruggia, Michael C., Pellegrino, Robert, Pepino, Marta Y., Bouysset, Cedric, Soler, Graciela M., Pereda-Loth, Veronica, Dibattista, Michele, Cooper, Keiland W., Croijmans, Ilja, Di Pizio, Antonella, Ozdener, Mehmet Hakan, Fjaeldstad, Alexander W., Lin, Cailu, Sandell, Mari A., Singh, Preet B., Brindha, V. Evelyn, Olsson, Shannon B., Saraiva, Luis R., Ahuja, Gaurav, Alwashahi, Mohammed K., Bhutani, Surabhi, D'Errico, Anna, Fornazieri, Marco A., Golebiowski, Jerome, Hwang, Liang Dar, Ozturk, Lina, Roura, Eugeni, Spinelli, Sara, Whitcroft, Katherine L., Faraji, Farhoud, Fischmeister, Florian Ph S., Heinbockel, Thomas, Hsieh, Julien W., Huart, Caroline, Konstantinidis, Iordanis, Menini, Anna, Morini, Gabriella, Olofsson, Jonas K., Philpott, Carl M., Pierron, Denis, Shields, Vonnie D. C., Voznessenskaya, Vera V., Albayay, Javier, Altundag, Aytug, Bensafi, Moustafa, Bock, Maria Adelaida, Calcinoni, Orietta, Fredborg, William, Laudamiel, Christophe, Lim, Juyun, Lundstrom, Johan N., Macchi, Alberto, Meyer, Pablo, Moein, Shima T., Santamaria, Enrique, Sengupta, Debarka, Dominguez, Paloma Rohlfs, Yanik, Huseyin, Hummel, Thomas, Hayes, John E., Reed, Danielle R., Niv, Masha Y., Munger, Steven D., and Parma, Valentina
Abstract: In a preregistered, cross-sectional study, we investigated whether olfactory loss is a reliable predictor of COVID-19 using a crowdsourced questionnaire in 23 languages to assess symptoms in individuals self-reporting recent respiratory illness. We quantified changes in chemosensory abilities during the course of the respiratory illness using 0–100 visual analog scales (VAS) for participants reporting a positive (C19+; n = 4148) or negative (C19−; n = 546) COVID-19 laboratory test outcome. Logistic regression models identified univariate and multivariate predictors of COVID-19 status and post-COVID-19 olfactory recovery. Both C19+ and C19− groups exhibited smell loss, but it was significantly larger in C19+ participants (mean ± SD, C19+: −82.5 ± 27.2 points; C19−: −59.8 ± 37.7). Smell loss during illness was the best predictor of COVID-19 in both univariate and multivariate models (ROC AUC = 0.72). Additional variables provide negligible model improvement. VAS ratings of smell loss were more predictive than binary chemosensory yes/no-questions or other cardinal symptoms (e.g., fever). Olfactory recovery within 40 days of respiratory symptom onset was reported for ~50% of participants and was best predicted by time since respiratory symptom onset. We find that quantified smell loss is the best predictor of COVID-19 amongst those with symptoms of respiratory illness. To aid clinicians and contact tracers in identifying individuals with a high likelihood of having COVID-19, we propose a novel 0–10 scale to screen for recent olfactory loss, the ODoR-19. We find that numeric ratings ≤2 indicate high odds of symptomatic COVID-19 (4 < OR < 10). Once independently validated, this tool could be deployed when viral lab tests are impractical or unavailable.
Published: 2021
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7. Genome-wide association study identifies 48 common genetic variants associated with handedness.

Author: Cuellar-Partida, Gabriel, Cuellar-Partida, Gabriel, Tung, Joyce Y, Eriksson, Nicholas, Albrecht, Eva, Aliev, Fazil, Andreassen, Ole A, Barroso, Inês, Beckmann, Jacques S, Boks, Marco P, Boomsma, Dorret I, Boyd, Heather A, Breteler, Monique MB, Campbell, Harry, Chasman, Daniel I, Cherkas, Lynn F, Davies, Gail, de Geus, Eco JC, Deary, Ian J, Deloukas, Panos, Dick, Danielle M, Duffy, David L, Eriksson, Johan G, Esko, Tõnu, Feenstra, Bjarke, Geller, Frank, Gieger, Christian, Giegling, Ina, Gordon, Scott D, Han, Jiali, Hansen, Thomas F, Hartmann, Annette M, Hayward, Caroline, Heikkilä, Kauko, Hicks, Andrew A, Hirschhorn, Joel N, Hottenga, Jouke-Jan, Huffman, Jennifer E, Hwang, Liang-Dar, Ikram, M Arfan, Kaprio, Jaakko, Kemp, John P, Khaw, Kay-Tee, Klopp, Norman, Konte, Bettina, Kutalik, Zoltan, Lahti, Jari, Li, Xin, Loos, Ruth JF, Luciano, Michelle, Magnusson, Sigurdur H, Mangino, Massimo, Marques-Vidal, Pedro, Martin, Nicholas G, McArdle, Wendy L, McCarthy, Mark I, Medina-Gomez, Carolina, Melbye, Mads, Melville, Scott A, Metspalu, Andres, Milani, Lili, Mooser, Vincent, Nelis, Mari, Nyholt, Dale R, O'Connell, Kevin S, Ophoff, Roel A, Palmer, Cameron, Palotie, Aarno, Palviainen, Teemu, Pare, Guillaume, Paternoster, Lavinia, Peltonen, Leena, Penninx, Brenda WJH, Polasek, Ozren, Pramstaller, Peter P, Prokopenko, Inga, Raikkonen, Katri, Ripatti, Samuli, Rivadeneira, Fernando, Rudan, Igor, Rujescu, Dan, Smit, Johannes H, Smith, George Davey, Smoller, Jordan W, Soranzo, Nicole, Spector, Tim D, Pourcain, Beate St, Starr, John M, Stefánsson, Hreinn, Steinberg, Stacy, Teder-Laving, Maris, Thorleifsson, Gudmar, Stefánsson, Kári, Timpson, Nicholas J, Uitterlinden, André G, van Duijn, Cornelia M, van Rooij, Frank JA, Vink, Jaqueline M, Vollenweider, Peter, Vuoksimaa, Eero, Cuellar-Partida, Gabriel, Cuellar-Partida, Gabriel, Tung, Joyce Y, Eriksson, Nicholas, Albrecht, Eva, Aliev, Fazil, Andreassen, Ole A, Barroso, Inês, Beckmann, Jacques S, Boks, Marco P, Boomsma, Dorret I, Boyd, Heather A, Breteler, Monique MB, Campbell, Harry, Chasman, Daniel I, Cherkas, Lynn F, Davies, Gail, de Geus, Eco JC, Deary, Ian J, Deloukas, Panos, Dick, Danielle M, Duffy, David L, Eriksson, Johan G, Esko, Tõnu, Feenstra, Bjarke, Geller, Frank, Gieger, Christian, Giegling, Ina, Gordon, Scott D, Han, Jiali, Hansen, Thomas F, Hartmann, Annette M, Hayward, Caroline, Heikkilä, Kauko, Hicks, Andrew A, Hirschhorn, Joel N, Hottenga, Jouke-Jan, Huffman, Jennifer E, Hwang, Liang-Dar, Ikram, M Arfan, Kaprio, Jaakko, Kemp, John P, Khaw, Kay-Tee, Klopp, Norman, Konte, Bettina, Kutalik, Zoltan, Lahti, Jari, Li, Xin, Loos, Ruth JF, Luciano, Michelle, Magnusson, Sigurdur H, Mangino, Massimo, Marques-Vidal, Pedro, Martin, Nicholas G, McArdle, Wendy L, McCarthy, Mark I, Medina-Gomez, Carolina, Melbye, Mads, Melville, Scott A, Metspalu, Andres, Milani, Lili, Mooser, Vincent, Nelis, Mari, Nyholt, Dale R, O'Connell, Kevin S, Ophoff, Roel A, Palmer, Cameron, Palotie, Aarno, Palviainen, Teemu, Pare, Guillaume, Paternoster, Lavinia, Peltonen, Leena, Penninx, Brenda WJH, Polasek, Ozren, Pramstaller, Peter P, Prokopenko, Inga, Raikkonen, Katri, Ripatti, Samuli, Rivadeneira, Fernando, Rudan, Igor, Rujescu, Dan, Smit, Johannes H, Smith, George Davey, Smoller, Jordan W, Soranzo, Nicole, Spector, Tim D, Pourcain, Beate St, Starr, John M, Stefánsson, Hreinn, Steinberg, Stacy, Teder-Laving, Maris, Thorleifsson, Gudmar, Stefánsson, Kári, Timpson, Nicholas J, Uitterlinden, André G, van Duijn, Cornelia M, van Rooij, Frank JA, Vink, Jaqueline M, Vollenweider, Peter, and Vuoksimaa, Eero
Abstract: Handedness has been extensively studied because of its relationship with language and the over-representation of left-handers in some neurodevelopmental disorders. Using data from the UK Biobank, 23andMe and the International Handedness Consortium, we conducted a genome-wide association meta-analysis of handedness (N = 1,766,671). We found 41 loci associated (P < 5 × 10-8) with left-handedness and 7 associated with ambidexterity. Tissue-enrichment analysis implicated the CNS in the aetiology of handedness. Pathways including regulation of microtubules and brain morphology were also highlighted. We found suggestive positive genetic correlations between left-handedness and neuropsychiatric traits, including schizophrenia and bipolar disorder. Furthermore, the genetic correlation between left-handedness and ambidexterity is low (rG = 0.26), which implies that these traits are largely influenced by different genetic mechanisms. Our findings suggest that handedness is highly polygenic and that the genetic variants that predispose to left-handedness may underlie part of the association with some psychiatric disorders.
Published: 2021

8. Recent smell loss is the best predictor of COVID-19 among individuals with recent respiratory symptoms

Author: Gerkin, Richard C., Ohla, Kathrin, Veldhuizen, Maria G., Joseph, Paule V., Kelly, Christine E., Bakke, Alyssa J., Steele, Kimberley E., Farruggia, Michael C., Pellegrino, Robert, Pepino, Marta Y., Bouysset, Cédric, Soler, Graciela M., Pereda-Loth, Veronica, Dibattista, Michele, Cooper, Keiland W., Croijmans, Ilja, Di Pizio, Antonella, Ozdener, Mehmet Hakan, Fjaeldstad, Alexander W., Lin, Cailu, Sandell, Mari A., Singh, Preet B., Brindha, Evelyn, Olsson, Shannon B., Saraiva, Luis R., Ahuja, Gaurav, Alwashahi, Mohammed K., Bhutani, Surabhi, D’Errico, Anna, Fornazieri, Marco A., Golebiowski, Jérôme, Hwang, Liang Dar, Öztürk, Lina, Roura, Eugeni, Spinelli, Sara, Whitcroft, Katherine L., Faraji, Farhoud, Fischmeister, Florian Ph S., Heinbockel, Thomas, Hsieh, Julien W., Huart, Caroline, Konstantinidis, Iordanis, Menini, Anna, Morini, Gabriella, Olofsson, Jonas K., Philpott, Carl M., Pierron, Denis, Shields, Vonnie D.C., Voznessenskaya, Vera V., Boesveldt, Sanne, Parma, Valentina, Gerkin, Richard C., Ohla, Kathrin, Veldhuizen, Maria G., Joseph, Paule V., Kelly, Christine E., Bakke, Alyssa J., Steele, Kimberley E., Farruggia, Michael C., Pellegrino, Robert, Pepino, Marta Y., Bouysset, Cédric, Soler, Graciela M., Pereda-Loth, Veronica, Dibattista, Michele, Cooper, Keiland W., Croijmans, Ilja, Di Pizio, Antonella, Ozdener, Mehmet Hakan, Fjaeldstad, Alexander W., Lin, Cailu, Sandell, Mari A., Singh, Preet B., Brindha, Evelyn, Olsson, Shannon B., Saraiva, Luis R., Ahuja, Gaurav, Alwashahi, Mohammed K., Bhutani, Surabhi, D’Errico, Anna, Fornazieri, Marco A., Golebiowski, Jérôme, Hwang, Liang Dar, Öztürk, Lina, Roura, Eugeni, Spinelli, Sara, Whitcroft, Katherine L., Faraji, Farhoud, Fischmeister, Florian Ph S., Heinbockel, Thomas, Hsieh, Julien W., Huart, Caroline, Konstantinidis, Iordanis, Menini, Anna, Morini, Gabriella, Olofsson, Jonas K., Philpott, Carl M., Pierron, Denis, Shields, Vonnie D.C., Voznessenskaya, Vera V., Boesveldt, Sanne, and Parma, Valentina
Abstract: In a preregistered, cross-sectional study, we investigated whether olfactory loss is a reliable predictor of COVID-19 using a crowdsourced questionnaire in 23 languages to assess symptoms in individuals self-reporting recent respiratory illness. We quantified changes in chemosensory abilities during the course of the respiratory illness using 0–100 visual analog scales (VAS) for participants reporting a positive (C19+; n = 4148) or negative (C19−; n = 546) COVID-19 laboratory test outcome. Logistic regression models identified univariate and multivariate predictors of COVID-19 status and post-COVID-19 olfactory recovery. Both C19+ and C19− groups exhibited smell loss, but it was significantly larger in C19+ participants (mean ± SD, C19+: −82.5 ± 27.2 points; C19−: −59.8 ± 37.7). Smell loss during illness was the best predictor of COVID-19 in both univariate and multivariate models (ROC AUC = 0.72). Additional variables provide negligible model improvement. VAS ratings of smell loss were more predictive than binary chemosensory yes/no-questions or other cardinal symptoms (e.g., fever). Olfactory recovery within 40 days of respiratory symptom onset was reported for ~50% of participants and was best predicted by time since respiratory symptom onset. We find that quantified smell loss is the best predictor of COVID-19 amongst those with symptoms of respiratory illness. To aid clinicians and contact tracers in identifying individuals with a high likelihood of having COVID-19, we propose a novel 0–10 scale to screen for recent olfactory loss, the ODoR-19. We find that numeric ratings ≤2 indicate high odds of symptomatic COVID-19 (4 < OR < 10). Once independently validated, this tool could be deployed when viral lab tests are impractical or unavailable.
Published: 2021

9. Evaluating the role of alcohol consumption in breast and ovarian cancer susceptibility using population-based cohort studies and two-sample Mendelian randomization analyses

Author: Ong, Jue Sheng, Derks, Eske M., Eriksson, Mikael, An, Jiyuan, Hwang, Liang Dar, Easton, Douglas F., Pharoah, Paul P., Berchuck, Andrew, Kelemen, Linda E., Matsuo, Keitaro, Chenevix-Trench, Georgia, Hall, Per, Bojesen, Stig E., Webb, Penelope M., MacGregor, Stuart, Ong, Jue Sheng, Derks, Eske M., Eriksson, Mikael, An, Jiyuan, Hwang, Liang Dar, Easton, Douglas F., Pharoah, Paul P., Berchuck, Andrew, Kelemen, Linda E., Matsuo, Keitaro, Chenevix-Trench, Georgia, Hall, Per, Bojesen, Stig E., Webb, Penelope M., and MacGregor, Stuart
Abstract: Alcohol consumption is correlated positively with risk for breast cancer in observational studies, but observational studies are subject to reverse causation and confounding. The association with epithelial ovarian cancer (EOC) is unclear. We performed both observational Cox regression and two-sample Mendelian randomization (MR) analyses using data from various European cohort studies (observational) and publicly available cancer consortia (MR). These estimates were compared to World Cancer Research Fund (WCRF) findings. In our observational analyses, the multivariable-adjusted hazard ratios (HR) for a one standard drink/day increase was 1.06 (95% confidence interval [CI]; 1.04, 1.08) for breast cancer and 1.00 (0.92, 1.08) for EOC, both of which were consistent with previous WCRF findings. MR ORs per genetically predicted one standard drink/day increase estimated via 34 SNPs using MR-PRESSO were 1.00 (0.93, 1.08) for breast cancer and 0.95 (0.85, 1.06) for EOC. Stratification by EOC subtype or estrogen receptor status in breast cancers made no meaningful difference to the results. For breast cancer, the CIs for the genetically derived estimates include the point-estimate from observational studies so are not inconsistent with a small increase in risk. Our data provide additional evidence that alcohol intake is unlikely to have anything other than a very small effect on risk of EOC.
Published: 2021

10. Genome-wide association study identifies 48 common genetic variants associated with handedness

Author: Cuellar-Partida, Gabriel, Tung, Joyce Y., Eriksson, Nicholas, Albrecht, Eva, Aliev, Fazil, Andreassen, Ole A., Barroso, Ines, Beckmann, Jacques S., Boks, Marco P., Boomsma, Dorret I., Boyd, Heather A., Breteler, Monique M. B., Campbell, Harry, Chasman, Daniel I., Cherkas, Lynn F., Davies, Gail, de Geus, Eco J. C., Deary, Ian J., Deloukas, Panos, Dick, Danielle M., Duffy, David L., Eriksson, Johan G., Esko, Tonu, Feenstra, Bjarke, Geller, Frank, Gieger, Christian, Giegling, Ina, Gordon, Scott D., Han, Jiali, Hansen, Thomas F., Hartmann, Annette M., Hayward, Caroline, Heikkila, Kauko, Hicks, Andrew A., Hirschhorn, Joel N., Hottenga, Jouke-Jan, Huffman, Jennifer E., Hwang, Liang-Dar, Ikram, M. Arfan, Kaprio, Jaakko, Kemp, John P., Khaw, Kay-Tee, Klopp, Norman, Konte, Bettina, Kutalik, Zoltan, Lahti, Jari, Li, Xin, Loos, Ruth J. F., Luciano, Michelle, Magnusson, Sigurdur H., Mangino, Massimo, Marques-Vidal, Pedro, Martin, Nicholas G., McArdle, Wendy L., McCarthy, Mark I., Medina-Gomez, Carolina, Melbye, Mads, Melville, Scott A., Metspalu, Andres, Milani, Lili, Mooser, Vincent, Nelis, Mari, Nyholt, Dale R., O'Connell, Kevin S., Ophoff, Roel A., Palmer, Cameron, Palotie, Aarno, Palviainen, Teemu, Pare, Guillaume, Paternoster, Lavinia, Peltonen, Leena, Penninx, Brenda W. J. H., Polasek, Ozren, Pramstaller, Peter P., Prokopenko, Inga, Raikkonen, Katri, Ripatti, Samuli, Rivadeneira, Fernando, Rudan, Igor, Rujescu, Dan, Smit, Johannes H., Smith, George Davey, Smoller, Jordan W., Soranzo, Nicole, Spector, Tim D., Pourcain, Beate St, Starr, John M., Stefansson, Hreinn, Steinberg, Stacy, Teder-Laving, Maris, Thorleifsson, Gudmar, Stefansson, Kari, Timpson, Nicholas J., Uitterlinden, Andre G., van Duijn, Cornelia M., van Rooij, Frank J. A., Vink, Jaqueline M., Vollenweider, Peter, Vuoksimaa, Eero, Waeber, Gerard, Wareham, Nicholas J., Warrington, Nicole, Waterworth, Dawn, Werge, Thomas, Wichmann, H. -Erich, Widen, Elisabeth, Willemsen, Gonneke, Wright, Alan F., Wright, Margaret J., Xu, Mousheng, Zhao, Jing Hua, Kraft, Peter, Hinds, David A., Lindgren, Cecilia M., Magi, Reedik, Neale, Benjamin M., Evans, David M., Medland, Sarah E., Cuellar-Partida, Gabriel, Tung, Joyce Y., Eriksson, Nicholas, Albrecht, Eva, Aliev, Fazil, Andreassen, Ole A., Barroso, Ines, Beckmann, Jacques S., Boks, Marco P., Boomsma, Dorret I., Boyd, Heather A., Breteler, Monique M. B., Campbell, Harry, Chasman, Daniel I., Cherkas, Lynn F., Davies, Gail, de Geus, Eco J. C., Deary, Ian J., Deloukas, Panos, Dick, Danielle M., Duffy, David L., Eriksson, Johan G., Esko, Tonu, Feenstra, Bjarke, Geller, Frank, Gieger, Christian, Giegling, Ina, Gordon, Scott D., Han, Jiali, Hansen, Thomas F., Hartmann, Annette M., Hayward, Caroline, Heikkila, Kauko, Hicks, Andrew A., Hirschhorn, Joel N., Hottenga, Jouke-Jan, Huffman, Jennifer E., Hwang, Liang-Dar, Ikram, M. Arfan, Kaprio, Jaakko, Kemp, John P., Khaw, Kay-Tee, Klopp, Norman, Konte, Bettina, Kutalik, Zoltan, Lahti, Jari, Li, Xin, Loos, Ruth J. F., Luciano, Michelle, Magnusson, Sigurdur H., Mangino, Massimo, Marques-Vidal, Pedro, Martin, Nicholas G., McArdle, Wendy L., McCarthy, Mark I., Medina-Gomez, Carolina, Melbye, Mads, Melville, Scott A., Metspalu, Andres, Milani, Lili, Mooser, Vincent, Nelis, Mari, Nyholt, Dale R., O'Connell, Kevin S., Ophoff, Roel A., Palmer, Cameron, Palotie, Aarno, Palviainen, Teemu, Pare, Guillaume, Paternoster, Lavinia, Peltonen, Leena, Penninx, Brenda W. J. H., Polasek, Ozren, Pramstaller, Peter P., Prokopenko, Inga, Raikkonen, Katri, Ripatti, Samuli, Rivadeneira, Fernando, Rudan, Igor, Rujescu, Dan, Smit, Johannes H., Smith, George Davey, Smoller, Jordan W., Soranzo, Nicole, Spector, Tim D., Pourcain, Beate St, Starr, John M., Stefansson, Hreinn, Steinberg, Stacy, Teder-Laving, Maris, Thorleifsson, Gudmar, Stefansson, Kari, Timpson, Nicholas J., Uitterlinden, Andre G., van Duijn, Cornelia M., van Rooij, Frank J. A., Vink, Jaqueline M., Vollenweider, Peter, Vuoksimaa, Eero, Waeber, Gerard, Wareham, Nicholas J., Warrington, Nicole, Waterworth, Dawn, Werge, Thomas, Wichmann, H. -Erich, Widen, Elisabeth, Willemsen, Gonneke, Wright, Alan F., Wright, Margaret J., Xu, Mousheng, Zhao, Jing Hua, Kraft, Peter, Hinds, David A., Lindgren, Cecilia M., Magi, Reedik, Neale, Benjamin M., Evans, David M., and Medland, Sarah E.
Abstract: Handedness has been extensively studied because of its relationship with language and the over-representation of left-handers in some neurodevelopmental disorders. Using data from the UK Biobank, 23andMe and the International Handedness Consortium, we conducted a genome-wide association meta-analysis of handedness (N = 1,766,671). We found 41 loci associated (P <5 x 10(-8)) with left-handedness and 7 associated with ambidexterity. Tissue-enrichment analysis implicated the CNS in the aetiology of handedness. Pathways including regulation of microtubules and brain morphology were also highlighted. We found suggestive positive genetic correlations between left-handedness and neuropsychiatric traits, including schizophrenia and bipolar disorder. Furthermore, the genetic correlation between left-handedness and ambidexterity is low (r(G) = 0.26), which implies that these traits are largely influenced by different genetic mechanisms. Our findings suggest that handedness is highly polygenic and that the genetic variants that predispose to left-handedness may underlie part of the association with some psychiatric disorders.A genome-wide association study of 1.7 million individuals identified 41 genetic variants associated with left-handedness and 7 associated with ambidexterity. The genetic correlation between the traits was low, thereby implying different aetiologies.
Published: 2021

11. Genome-wide association study identifies 48 common genetic variants associated with handedness

Author: Cuellar-Partida, Gabriel, Tung, Joyce Y., Eriksson, Nicholas, Albrecht, Eva, Aliev, Fazil, Andreassen, Ole A., Barroso, Inês, Beckmann, Jacques S., Boks, Marco P., Boomsma, Dorret I., Boyd, Heather A., Breteler, Monique M.B., Campbell, Harry, Chasman, Daniel I., Cherkas, Lynn F., Davies, Gail, de Geus, Eco J.C., Deary, Ian J., Deloukas, Panos, Dick, Danielle M., Duffy, David L., Eriksson, Johan G., Esko, Tõnu, Feenstra, Bjarke, Geller, Frank, Gieger, Christian, Giegling, Ina, Gordon, Scott D., Han, Jiali, Hansen, Thomas F., Hartmann, Annette M., Hayward, Caroline, Heikkilä, Kauko, Hicks, Andrew A., Hirschhorn, Joel N., Hottenga, Jouke Jan, Huffman, Jennifer E., Hwang, Liang Dar, Ikram, M. Arfan, Kaprio, Jaakko, Kemp, John P., Khaw, Kay Tee, Klopp, Norman, Konte, Bettina, Kutalik, Zoltan, Lahti, Jari, Li, Xin, Loos, Ruth J.F., Luciano, Michelle, Magnusson, Sigurdur H., Mangino, Massimo, Marques-Vidal, Pedro, Martin, Nicholas G., McArdle, Wendy L., McCarthy, Mark I., Medina-Gomez, Carolina, Melbye, Mads, Melville, Scott A., Metspalu, Andres, Milani, Lili, Mooser, Vincent, Nelis, Mari, Nyholt, Dale R., O’Connell, Kevin S., Ophoff, Roel A., Palmer, Cameron, Palotie, Aarno, Palviainen, Teemu, Pare, Guillaume, Paternoster, Lavinia, Peltonen, Leena, Penninx, Brenda W.J.H., Polasek, Ozren, Pramstaller, Peter P., Prokopenko, Inga, Raikkonen, Katri, Ripatti, Samuli, Rivadeneira, Fernando, Rudan, Igor, Rujescu, Dan, Smit, Johannes H., Smith, George Davey, Smoller, Jordan W., Soranzo, Nicole, Spector, Tim D., Pourcain, Beate St, Starr, John M., Stefánsson, Hreinn, Steinberg, Stacy, Teder-Laving, Maris, Thorleifsson, Gudmar, Stefánsson, Kári, Timpson, Nicholas J., Uitterlinden, André G., van Duijn, Cornelia M., van Rooij, Frank J.A., Vink, Jaqueline M., Vollenweider, Peter, Vuoksimaa, Eero, Waeber, Gérard, Wareham, Nicholas J., Warrington, Nicole, Waterworth, Dawn, Werge, Thomas, Wichmann, H. Erich, Widen, Elisabeth, Willemsen, Gonneke, Wright, Alan F., Wright, Margaret J., Xu, Mousheng, Zhao, Jing Hua, Kraft, Peter, Hinds, David A., Lindgren, Cecilia M., Mägi, Reedik, Neale, Benjamin M., Evans, David M., Medland, Sarah E., Cuellar-Partida, Gabriel, Tung, Joyce Y., Eriksson, Nicholas, Albrecht, Eva, Aliev, Fazil, Andreassen, Ole A., Barroso, Inês, Beckmann, Jacques S., Boks, Marco P., Boomsma, Dorret I., Boyd, Heather A., Breteler, Monique M.B., Campbell, Harry, Chasman, Daniel I., Cherkas, Lynn F., Davies, Gail, de Geus, Eco J.C., Deary, Ian J., Deloukas, Panos, Dick, Danielle M., Duffy, David L., Eriksson, Johan G., Esko, Tõnu, Feenstra, Bjarke, Geller, Frank, Gieger, Christian, Giegling, Ina, Gordon, Scott D., Han, Jiali, Hansen, Thomas F., Hartmann, Annette M., Hayward, Caroline, Heikkilä, Kauko, Hicks, Andrew A., Hirschhorn, Joel N., Hottenga, Jouke Jan, Huffman, Jennifer E., Hwang, Liang Dar, Ikram, M. Arfan, Kaprio, Jaakko, Kemp, John P., Khaw, Kay Tee, Klopp, Norman, Konte, Bettina, Kutalik, Zoltan, Lahti, Jari, Li, Xin, Loos, Ruth J.F., Luciano, Michelle, Magnusson, Sigurdur H., Mangino, Massimo, Marques-Vidal, Pedro, Martin, Nicholas G., McArdle, Wendy L., McCarthy, Mark I., Medina-Gomez, Carolina, Melbye, Mads, Melville, Scott A., Metspalu, Andres, Milani, Lili, Mooser, Vincent, Nelis, Mari, Nyholt, Dale R., O’Connell, Kevin S., Ophoff, Roel A., Palmer, Cameron, Palotie, Aarno, Palviainen, Teemu, Pare, Guillaume, Paternoster, Lavinia, Peltonen, Leena, Penninx, Brenda W.J.H., Polasek, Ozren, Pramstaller, Peter P., Prokopenko, Inga, Raikkonen, Katri, Ripatti, Samuli, Rivadeneira, Fernando, Rudan, Igor, Rujescu, Dan, Smit, Johannes H., Smith, George Davey, Smoller, Jordan W., Soranzo, Nicole, Spector, Tim D., Pourcain, Beate St, Starr, John M., Stefánsson, Hreinn, Steinberg, Stacy, Teder-Laving, Maris, Thorleifsson, Gudmar, Stefánsson, Kári, Timpson, Nicholas J., Uitterlinden, André G., van Duijn, Cornelia M., van Rooij, Frank J.A., Vink, Jaqueline M., Vollenweider, Peter, Vuoksimaa, Eero, Waeber, Gérard, Wareham, Nicholas J., Warrington, Nicole, Waterworth, Dawn, Werge, Thomas, Wichmann, H. Erich, Widen, Elisabeth, Willemsen, Gonneke, Wright, Alan F., Wright, Margaret J., Xu, Mousheng, Zhao, Jing Hua, Kraft, Peter, Hinds, David A., Lindgren, Cecilia M., Mägi, Reedik, Neale, Benjamin M., Evans, David M., and Medland, Sarah E.
Abstract: Handedness has been extensively studied because of its relationship with language and the over-representation of left-handers in some neurodevelopmental disorders. Using data from the UK Biobank, 23andMe and the International Handedness Consortium, we conducted a genome-wide association meta-analysis of handedness (N = 1,766,671). We found 41 loci associated (P < 5 × 10−8) with left-handedness and 7 associated with ambidexterity. Tissue-enrichment analysis implicated the CNS in the aetiology of handedness. Pathways including regulation of microtubules and brain morphology were also highlighted. We found suggestive positive genetic correlations between left-handedness and neuropsychiatric traits, including schizophrenia and bipolar disorder. Furthermore, the genetic correlation between left-handedness and ambidexterity is low (rG = 0.26), which implies that these traits are largely influenced by different genetic mechanisms. Our findings suggest that handedness is highly polygenic and that the genetic variants that predispose to left-handedness may underlie part of the association with some psychiatric disorders.
Published: 2021
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12. Corrigendum to: More Than Smell—COVID-19 Is Associated With Severe Impairment of Smell, Taste, and Chemesthesis

Author: Parma, Valentina, Ohla, Kathrin, Veldhuizen, Maria G., Niv, Masha Y., Kelly, Christine E., Bakke, Alyssa J., Cooper, Keiland W., Bouysset, Cédric, Pirastu, Nicola, Dibattista, Michele, Kaur, Rishemjit, Liuzza, Marco Tullio, Pepino, Marta Y., Schöpf, Veronika, Pereda-Loth, Veronica, Olsson, Shannon B., Gerkin, Richard C., Rohlfs Domínguez, Paloma, Albayay, Javier, Farruggia, Michael C., Bhutani, Surabhi, Fjaeldstad, Alexander W., Kumar, Ritesh, Menini, Anna, Bensafi, Moustafa, Sandell, Mari, Konstantinidis, Iordanis, Di Pizio, Antonella, Genovese, Federica, Öztürk, Lina, Thomas-Danguin, Thierry, Frasnelli, Johannes, Boesveldt, Sanne, Saatci, Özlem, Saraiva, Luis R., Lin, Cailu, Golebiowski, Jérôme, Hwang, Liang Dar, Ozdener, Mehmet Hakan, Guàrdia, Maria Dolors, Laudamiel, Christophe, Ritchie, Marina, Havlícek, Jan, Pierron, Denis, Roura, Eugeni, Navarro, Marta, Nolden, Alissa A., Lim, Juyun, Whitcroft, Katherine L., Colquitt, Lauren R., Ferdenzi, Camille, Brindha, Evelyn V., Altundag, Aytug, Macchi, Alberto, Nunez-Parra, Alexia, Patel, Zara M., Fiorucci, Sébastien, Philpott, Carl M., Smith, Barry C., Lundström, Johan N., Mucignat, Carla, Parker, Jane K., Van Den Brink, Mirjam, Schmuker, Michael, Fischmeister, Florian Ph S., Heinbockel, Thomas, Shields, Vonnie D.C., Faraji, Farhoud, Santamaría, Enrique, Fredborg, William E.A., Morini, Gabriella, Olofsson, Jonas K., Jalessi, Maryam, Karni, Noam, D'Errico, Anna, Alizadeh, Rafieh, Pellegrino, Robert, Meyer, Pablo, Huart, Caroline, Chen, Ben, Soler, Graciela M., Alwashahi, Mohammed K., Welge-Lüssen, Antje, Freiherr, Jessica, De Groot, Jasper H.B., Klein, Hadar, Okamoto, Masako, Singh, Preet Bano, Hsieh, Julien W., Abdulrahman, Olagunju, Dalton, Pamela, Yan, Carol H., Voznessenskaya, Vera V., Chen, Jingguo, Sell, Elizabeth A., Walsh-Messinger, Julie, Archer, Nicholas S., Koyama, Sachiko, Deary, Vincent, Roberts, S.C., Yanlk, Hüseyin, Albayrak, Samet, Nováková, Lenka Martinec, Croijmans, Ilja, Mazal, Patricia Portillo, Moein, Shima T., Margulis, Eitan, Mignot, Coralie, Mariño, Sajidxa, Georgiev, Dejan, Kaushik, Pavan K., Malnic, Bettina, Wang, Hong, Seyed-Allaei, Shima, Yoluk, Nur, Razzaghi-Asl, Sara, Justice, Jeb M., Restrepo, Diego, Reed, Danielle R., Hummel, Thomas, Munger, Steven D., Hayes, John E., Parma, Valentina, Ohla, Kathrin, Veldhuizen, Maria G., Niv, Masha Y., Kelly, Christine E., Bakke, Alyssa J., Cooper, Keiland W., Bouysset, Cédric, Pirastu, Nicola, Dibattista, Michele, Kaur, Rishemjit, Liuzza, Marco Tullio, Pepino, Marta Y., Schöpf, Veronika, Pereda-Loth, Veronica, Olsson, Shannon B., Gerkin, Richard C., Rohlfs Domínguez, Paloma, Albayay, Javier, Farruggia, Michael C., Bhutani, Surabhi, Fjaeldstad, Alexander W., Kumar, Ritesh, Menini, Anna, Bensafi, Moustafa, Sandell, Mari, Konstantinidis, Iordanis, Di Pizio, Antonella, Genovese, Federica, Öztürk, Lina, Thomas-Danguin, Thierry, Frasnelli, Johannes, Boesveldt, Sanne, Saatci, Özlem, Saraiva, Luis R., Lin, Cailu, Golebiowski, Jérôme, Hwang, Liang Dar, Ozdener, Mehmet Hakan, Guàrdia, Maria Dolors, Laudamiel, Christophe, Ritchie, Marina, Havlícek, Jan, Pierron, Denis, Roura, Eugeni, Navarro, Marta, Nolden, Alissa A., Lim, Juyun, Whitcroft, Katherine L., Colquitt, Lauren R., Ferdenzi, Camille, Brindha, Evelyn V., Altundag, Aytug, Macchi, Alberto, Nunez-Parra, Alexia, Patel, Zara M., Fiorucci, Sébastien, Philpott, Carl M., Smith, Barry C., Lundström, Johan N., Mucignat, Carla, Parker, Jane K., Van Den Brink, Mirjam, Schmuker, Michael, Fischmeister, Florian Ph S., Heinbockel, Thomas, Shields, Vonnie D.C., Faraji, Farhoud, Santamaría, Enrique, Fredborg, William E.A., Morini, Gabriella, Olofsson, Jonas K., Jalessi, Maryam, Karni, Noam, D'Errico, Anna, Alizadeh, Rafieh, Pellegrino, Robert, Meyer, Pablo, Huart, Caroline, Chen, Ben, Soler, Graciela M., Alwashahi, Mohammed K., Welge-Lüssen, Antje, Freiherr, Jessica, De Groot, Jasper H.B., Klein, Hadar, Okamoto, Masako, Singh, Preet Bano, Hsieh, Julien W., Abdulrahman, Olagunju, Dalton, Pamela, Yan, Carol H., Voznessenskaya, Vera V., Chen, Jingguo, Sell, Elizabeth A., Walsh-Messinger, Julie, Archer, Nicholas S., Koyama, Sachiko, Deary, Vincent, Roberts, S.C., Yanlk, Hüseyin, Albayrak, Samet, Nováková, Lenka Martinec, Croijmans, Ilja, Mazal, Patricia Portillo, Moein, Shima T., Margulis, Eitan, Mignot, Coralie, Mariño, Sajidxa, Georgiev, Dejan, Kaushik, Pavan K., Malnic, Bettina, Wang, Hong, Seyed-Allaei, Shima, Yoluk, Nur, Razzaghi-Asl, Sara, Justice, Jeb M., Restrepo, Diego, Reed, Danielle R., Hummel, Thomas, Munger, Steven D., and Hayes, John E.
Abstract: This is a correction notice for article bjaa041 (DOI: https:// doi.org/10.1093/chemse/bjaa041), published 20 June 2020. An incorrect version of the caption to Figure 5 was mistakenly included in the published paper. An updated version is given below. Neither the data nor the paper's conclusions were affected by this correction. The authors sincerely apologize for the error. (A) Correlations between the 3 principal components with respect to changes in 3 chemosensory modalities (i.e., taste, smell, and chemesthesis). Shades of gray indicate positive correlation, whereas shades of red indicate negative correlations. White denotes no correlation. (B) Clusters of participants identified by k-means clustering. The scatterplot shows each participant's loading on dimension 1 (degree of smell and taste loss, PC1 on x-Axis) and dimension 2 (degree of chemesthesis loss, PC2 on y-Axis). Based on the centroid of each cluster, participants in cluster 1 (blue, N = 1767; top left) are generally characterized by significant smell, taste and chemesthesis loss. Participants in cluster 2 (orange, N = 1724; bottom center) are generally characterized by ratings that reflect smell/taste loss with preserved chemesthesis. Loadings for participants in cluster 3 (green, N = 548; right side) are generally characterized by reduced smell and taste loss, and preserved chemesthesis.
Published: 2021

13. Evaluating the role of alcohol consumption in breast and ovarian cancer susceptibility using population-based cohort studies and two-sample Mendelian randomization analyses

Author: Ong, Jue Sheng, Derks, Eske M., Eriksson, Mikael, An, Jiyuan, Hwang, Liang Dar, Easton, Douglas F., Pharoah, Paul P., Berchuck, Andrew, Kelemen, Linda E., Matsuo, Keitaro, Chenevix-Trench, Georgia, Hall, Per, Bojesen, Stig E., Webb, Penelope M., MacGregor, Stuart, Ong, Jue Sheng, Derks, Eske M., Eriksson, Mikael, An, Jiyuan, Hwang, Liang Dar, Easton, Douglas F., Pharoah, Paul P., Berchuck, Andrew, Kelemen, Linda E., Matsuo, Keitaro, Chenevix-Trench, Georgia, Hall, Per, Bojesen, Stig E., Webb, Penelope M., and MacGregor, Stuart
Abstract: Alcohol consumption is correlated positively with risk for breast cancer in observational studies, but observational studies are subject to reverse causation and confounding. The association with epithelial ovarian cancer (EOC) is unclear. We performed both observational Cox regression and two-sample Mendelian randomization (MR) analyses using data from various European cohort studies (observational) and publicly available cancer consortia (MR). These estimates were compared to World Cancer Research Fund (WCRF) findings. In our observational analyses, the multivariable-adjusted hazard ratios (HR) for a one standard drink/day increase was 1.06 (95% confidence interval [CI]; 1.04, 1.08) for breast cancer and 1.00 (0.92, 1.08) for EOC, both of which were consistent with previous WCRF findings. MR ORs per genetically predicted one standard drink/day increase estimated via 34 SNPs using MR-PRESSO were 1.00 (0.93, 1.08) for breast cancer and 0.95 (0.85, 1.06) for EOC. Stratification by EOC subtype or estrogen receptor status in breast cancers made no meaningful difference to the results. For breast cancer, the CIs for the genetically derived estimates include the point-estimate from observational studies so are not inconsistent with a small increase in risk. Our data provide additional evidence that alcohol intake is unlikely to have anything other than a very small effect on risk of EOC.
Published: 2021

14. Genome-wide association study identifies 48 common genetic variants associated with handedness

Author: Cuellar-Partida, Gabriel, Tung, Joyce Y., Eriksson, Nicholas, Albrecht, Eva, Aliev, Fazil, Andreassen, Ole A., Barroso, Ines, Beckmann, Jacques S., Boks, Marco P., Boomsma, Dorret I., Boyd, Heather A., Breteler, Monique M. B., Campbell, Harry, Chasman, Daniel I., Cherkas, Lynn F., Davies, Gail, de Geus, Eco J. C., Deary, Ian J., Deloukas, Panos, Dick, Danielle M., Duffy, David L., Eriksson, Johan G., Esko, Tonu, Feenstra, Bjarke, Geller, Frank, Gieger, Christian, Giegling, Ina, Gordon, Scott D., Han, Jiali, Hansen, Thomas F., Hartmann, Annette M., Hayward, Caroline, Heikkila, Kauko, Hicks, Andrew A., Hirschhorn, Joel N., Hottenga, Jouke-Jan, Huffman, Jennifer E., Hwang, Liang-Dar, Ikram, M. Arfan, Kaprio, Jaakko, Kemp, John P., Khaw, Kay-Tee, Klopp, Norman, Konte, Bettina, Kutalik, Zoltan, Lahti, Jari, Li, Xin, Loos, Ruth J. F., Luciano, Michelle, Magnusson, Sigurdur H., Mangino, Massimo, Marques-Vidal, Pedro, Martin, Nicholas G., McArdle, Wendy L., McCarthy, Mark I., Medina-Gomez, Carolina, Melbye, Mads, Melville, Scott A., Metspalu, Andres, Milani, Lili, Mooser, Vincent, Nelis, Mari, Nyholt, Dale R., O'Connell, Kevin S., Ophoff, Roel A., Palmer, Cameron, Palotie, Aarno, Palviainen, Teemu, Pare, Guillaume, Paternoster, Lavinia, Peltonen, Leena, Penninx, Brenda W. J. H., Polasek, Ozren, Pramstaller, Peter P., Prokopenko, Inga, Raikkonen, Katri, Ripatti, Samuli, Rivadeneira, Fernando, Rudan, Igor, Rujescu, Dan, Smit, Johannes H., Smith, George Davey, Smoller, Jordan W., Soranzo, Nicole, Spector, Tim D., Pourcain, Beate St, Starr, John M., Stefansson, Hreinn, Steinberg, Stacy, Teder-Laving, Maris, Thorleifsson, Gudmar, Stefansson, Kari, Timpson, Nicholas J., Uitterlinden, Andre G., van Duijn, Cornelia M., van Rooij, Frank J. A., Vink, Jaqueline M., Vollenweider, Peter, Vuoksimaa, Eero, Waeber, Gerard, Wareham, Nicholas J., Warrington, Nicole, Waterworth, Dawn, Werge, Thomas, Wichmann, H. -Erich, Widen, Elisabeth, Willemsen, Gonneke, Wright, Alan F., Wright, Margaret J., Xu, Mousheng, Zhao, Jing Hua, Kraft, Peter, Hinds, David A., Lindgren, Cecilia M., Magi, Reedik, Neale, Benjamin M., Evans, David M., Medland, Sarah E., Cuellar-Partida, Gabriel, Tung, Joyce Y., Eriksson, Nicholas, Albrecht, Eva, Aliev, Fazil, Andreassen, Ole A., Barroso, Ines, Beckmann, Jacques S., Boks, Marco P., Boomsma, Dorret I., Boyd, Heather A., Breteler, Monique M. B., Campbell, Harry, Chasman, Daniel I., Cherkas, Lynn F., Davies, Gail, de Geus, Eco J. C., Deary, Ian J., Deloukas, Panos, Dick, Danielle M., Duffy, David L., Eriksson, Johan G., Esko, Tonu, Feenstra, Bjarke, Geller, Frank, Gieger, Christian, Giegling, Ina, Gordon, Scott D., Han, Jiali, Hansen, Thomas F., Hartmann, Annette M., Hayward, Caroline, Heikkila, Kauko, Hicks, Andrew A., Hirschhorn, Joel N., Hottenga, Jouke-Jan, Huffman, Jennifer E., Hwang, Liang-Dar, Ikram, M. Arfan, Kaprio, Jaakko, Kemp, John P., Khaw, Kay-Tee, Klopp, Norman, Konte, Bettina, Kutalik, Zoltan, Lahti, Jari, Li, Xin, Loos, Ruth J. F., Luciano, Michelle, Magnusson, Sigurdur H., Mangino, Massimo, Marques-Vidal, Pedro, Martin, Nicholas G., McArdle, Wendy L., McCarthy, Mark I., Medina-Gomez, Carolina, Melbye, Mads, Melville, Scott A., Metspalu, Andres, Milani, Lili, Mooser, Vincent, Nelis, Mari, Nyholt, Dale R., O'Connell, Kevin S., Ophoff, Roel A., Palmer, Cameron, Palotie, Aarno, Palviainen, Teemu, Pare, Guillaume, Paternoster, Lavinia, Peltonen, Leena, Penninx, Brenda W. J. H., Polasek, Ozren, Pramstaller, Peter P., Prokopenko, Inga, Raikkonen, Katri, Ripatti, Samuli, Rivadeneira, Fernando, Rudan, Igor, Rujescu, Dan, Smit, Johannes H., Smith, George Davey, Smoller, Jordan W., Soranzo, Nicole, Spector, Tim D., Pourcain, Beate St, Starr, John M., Stefansson, Hreinn, Steinberg, Stacy, Teder-Laving, Maris, Thorleifsson, Gudmar, Stefansson, Kari, Timpson, Nicholas J., Uitterlinden, Andre G., van Duijn, Cornelia M., van Rooij, Frank J. A., Vink, Jaqueline M., Vollenweider, Peter, Vuoksimaa, Eero, Waeber, Gerard, Wareham, Nicholas J., Warrington, Nicole, Waterworth, Dawn, Werge, Thomas, Wichmann, H. -Erich, Widen, Elisabeth, Willemsen, Gonneke, Wright, Alan F., Wright, Margaret J., Xu, Mousheng, Zhao, Jing Hua, Kraft, Peter, Hinds, David A., Lindgren, Cecilia M., Magi, Reedik, Neale, Benjamin M., Evans, David M., and Medland, Sarah E.
Abstract: Handedness has been extensively studied because of its relationship with language and the over-representation of left-handers in some neurodevelopmental disorders. Using data from the UK Biobank, 23andMe and the International Handedness Consortium, we conducted a genome-wide association meta-analysis of handedness (N = 1,766,671). We found 41 loci associated (P <5 x 10(-8)) with left-handedness and 7 associated with ambidexterity. Tissue-enrichment analysis implicated the CNS in the aetiology of handedness. Pathways including regulation of microtubules and brain morphology were also highlighted. We found suggestive positive genetic correlations between left-handedness and neuropsychiatric traits, including schizophrenia and bipolar disorder. Furthermore, the genetic correlation between left-handedness and ambidexterity is low (r(G) = 0.26), which implies that these traits are largely influenced by different genetic mechanisms. Our findings suggest that handedness is highly polygenic and that the genetic variants that predispose to left-handedness may underlie part of the association with some psychiatric disorders.A genome-wide association study of 1.7 million individuals identified 41 genetic variants associated with left-handedness and 7 associated with ambidexterity. The genetic correlation between the traits was low, thereby implying different aetiologies.
Published: 2021

15. Genome-wide association study identifies 48 common genetic variants associated with handedness

Author: Onderzoeksgroep 2, Brain, Hersenen-Bedrijfsvoering, Cuellar-Partida, Gabriel, Tung, Joyce Y., Eriksson, Nicholas, Albrecht, Eva, Aliev, Fazil, Andreassen, Ole A., Barroso, Inês, Beckmann, Jacques S., Boks, Marco P., Boomsma, Dorret I., Boyd, Heather A., Breteler, Monique M.B., Campbell, Harry, Chasman, Daniel I., Cherkas, Lynn F., Davies, Gail, de Geus, Eco J.C., Deary, Ian J., Deloukas, Panos, Dick, Danielle M., Duffy, David L., Eriksson, Johan G., Esko, Tõnu, Feenstra, Bjarke, Geller, Frank, Gieger, Christian, Giegling, Ina, Gordon, Scott D., Han, Jiali, Hansen, Thomas F., Hartmann, Annette M., Hayward, Caroline, Heikkilä, Kauko, Hicks, Andrew A., Hirschhorn, Joel N., Hottenga, Jouke Jan, Huffman, Jennifer E., Hwang, Liang Dar, Ikram, M. Arfan, Kaprio, Jaakko, Kemp, John P., Khaw, Kay Tee, Klopp, Norman, Konte, Bettina, Kutalik, Zoltan, Lahti, Jari, Li, Xin, Loos, Ruth J.F., Luciano, Michelle, Ophoff, Roel A., Onderzoeksgroep 2, Brain, Hersenen-Bedrijfsvoering, Cuellar-Partida, Gabriel, Tung, Joyce Y., Eriksson, Nicholas, Albrecht, Eva, Aliev, Fazil, Andreassen, Ole A., Barroso, Inês, Beckmann, Jacques S., Boks, Marco P., Boomsma, Dorret I., Boyd, Heather A., Breteler, Monique M.B., Campbell, Harry, Chasman, Daniel I., Cherkas, Lynn F., Davies, Gail, de Geus, Eco J.C., Deary, Ian J., Deloukas, Panos, Dick, Danielle M., Duffy, David L., Eriksson, Johan G., Esko, Tõnu, Feenstra, Bjarke, Geller, Frank, Gieger, Christian, Giegling, Ina, Gordon, Scott D., Han, Jiali, Hansen, Thomas F., Hartmann, Annette M., Hayward, Caroline, Heikkilä, Kauko, Hicks, Andrew A., Hirschhorn, Joel N., Hottenga, Jouke Jan, Huffman, Jennifer E., Hwang, Liang Dar, Ikram, M. Arfan, Kaprio, Jaakko, Kemp, John P., Khaw, Kay Tee, Klopp, Norman, Konte, Bettina, Kutalik, Zoltan, Lahti, Jari, Li, Xin, Loos, Ruth J.F., Luciano, Michelle, and Ophoff, Roel A.
Published: 2021

16. More than just smell - COVID-19 is associated with severe impairment of smell, taste, and chemesthesis

Author: Parma, Valentina, Ohla, Kathrin, Veldhuizen, Maria G., Niv, Masha Y., Kelly, Christine E., Bakke, Alyssa J., Cooper, Keiland W., Bouysset, Cédric, Pirastu, Nicola, Dibattista, Michele, Kaur, Rishemjit, Liuzza, Marco Tullio, Pepino, Marta Y., Schöpf, Veronika, Pereda-Loth, Veronica, Olsson, Shannon B, Gerkin, Richard C, Domínguez, Paloma Rohlfs, Albayay, Javier, Farruggia, Michael C., Bhutani, Surabhi, Fjaeldstad, Alexander W, Kumar, Ritesh, Menini, Anna, Bensafi, Moustafa, Sandell, Mari, Konstantinidis, Iordanis, Pizio, Antonella Di, Genovese, Federica, Öztürk, Lina, Thomas-Danguin, Thierry, Frasnelli, Johannes, Boesveldt, Sanne, Saatci, Özlem, Saraiva, Luis R., Lin, Cailu, Golebiowski, Jérôme, Hwang, Liang-Dar, Ozdener, Mehmet Hakan, Guàrdia, Maria Dolors, Laudamiel, Christophe, Ritchie, Marina, Fialov, Jitka Trebická, Havlícek, Jan, Pierron, Denis, Roura, Eugeni, Navarro, Marta, Nolden, Alissa A., Lim, Juyun, Whitcroft, KL, Colquitt, Lauren R., Ferdenzi, Camille, Brindha, Evelyn V., Altundag, Aytug, Macchi, Alberto, Nunez-Parra, Alexia, Patel, Zara M., Fiorucci, Sébastien, Philpott, Carl M., Smith, Barry C., Lundström, Johan N, Mucignat, Carla, Parker, Jane K., Brink, Mirjam van den, Schmuker, Michael, Fischmeister, Florian Ph.S, Heinbockel, Thomas, Shields, Vonnie D.C., Faraji, Farhoud, Santamaría, Enrique Enrique, Fredborg, William E.A., Morini, Gabriella, Olofsson, Jonas K., Jalessi, Maryam, Karni, Noam, D'Errico, Anna, Alizadeh, Rafieh, Pellegrino, Robert, Meyer, Pablo, Huart, Caroline, Chen, Ben, Soler, Graciela M., Alwashahi, Mohammed K., Abdulrahman, Olagunju, Welge-Lüssen, Antje, Dalton, Pamela, Freiherr, Jessica, Yan, Carol H., Groot, Jasper H. B. de, Voznessenskaya, Vera V., Klein, Hadar, Chen, Jingguo, Okamoto, Masako, Sell, Elizabeth A., Singh, Preet Bano, Walsh-Messinger, Julie, Archer, Nicholas S., Koyama, Sachiko, Deary, Vincent, Roberts, S. Craig, Yanik, Hüseyin, Albayrak, Samet, Novákov, Lenka Martinec, Croijmans, Ilja, Mazal, Patricia Portillo, Moein, Shima T., Margulis, Eitan, Mignot, Coralie, Mariño, Sajidxa, Georgiev, Dejan, Kaushik, Pavan K., Malnic, Bettina, Wang, Hong, Seyed-Allaei, Shima, Yoluk, Nur, Asl, Sara Razzaghi, Justice, Jeb M., Restrepo, Diego, Reed, Danielle R., Hummel, Thomas, Munger, Steven, Hayes, John E, Parma, Valentina, Ohla, Kathrin, Veldhuizen, Maria G., Niv, Masha Y., Kelly, Christine E., Bakke, Alyssa J., Cooper, Keiland W., Bouysset, Cédric, Pirastu, Nicola, Dibattista, Michele, Kaur, Rishemjit, Liuzza, Marco Tullio, Pepino, Marta Y., Schöpf, Veronika, Pereda-Loth, Veronica, Olsson, Shannon B, Gerkin, Richard C, Domínguez, Paloma Rohlfs, Albayay, Javier, Farruggia, Michael C., Bhutani, Surabhi, Fjaeldstad, Alexander W, Kumar, Ritesh, Menini, Anna, Bensafi, Moustafa, Sandell, Mari, Konstantinidis, Iordanis, Pizio, Antonella Di, Genovese, Federica, Öztürk, Lina, Thomas-Danguin, Thierry, Frasnelli, Johannes, Boesveldt, Sanne, Saatci, Özlem, Saraiva, Luis R., Lin, Cailu, Golebiowski, Jérôme, Hwang, Liang-Dar, Ozdener, Mehmet Hakan, Guàrdia, Maria Dolors, Laudamiel, Christophe, Ritchie, Marina, Fialov, Jitka Trebická, Havlícek, Jan, Pierron, Denis, Roura, Eugeni, Navarro, Marta, Nolden, Alissa A., Lim, Juyun, Whitcroft, KL, Colquitt, Lauren R., Ferdenzi, Camille, Brindha, Evelyn V., Altundag, Aytug, Macchi, Alberto, Nunez-Parra, Alexia, Patel, Zara M., Fiorucci, Sébastien, Philpott, Carl M., Smith, Barry C., Lundström, Johan N, Mucignat, Carla, Parker, Jane K., Brink, Mirjam van den, Schmuker, Michael, Fischmeister, Florian Ph.S, Heinbockel, Thomas, Shields, Vonnie D.C., Faraji, Farhoud, Santamaría, Enrique Enrique, Fredborg, William E.A., Morini, Gabriella, Olofsson, Jonas K., Jalessi, Maryam, Karni, Noam, D'Errico, Anna, Alizadeh, Rafieh, Pellegrino, Robert, Meyer, Pablo, Huart, Caroline, Chen, Ben, Soler, Graciela M., Alwashahi, Mohammed K., Abdulrahman, Olagunju, Welge-Lüssen, Antje, Dalton, Pamela, Freiherr, Jessica, Yan, Carol H., Groot, Jasper H. B. de, Voznessenskaya, Vera V., Klein, Hadar, Chen, Jingguo, Okamoto, Masako, Sell, Elizabeth A., Singh, Preet Bano, Walsh-Messinger, Julie, Archer, Nicholas S., Koyama, Sachiko, Deary, Vincent, Roberts, S. Craig, Yanik, Hüseyin, Albayrak, Samet, Novákov, Lenka Martinec, Croijmans, Ilja, Mazal, Patricia Portillo, Moein, Shima T., Margulis, Eitan, Mignot, Coralie, Mariño, Sajidxa, Georgiev, Dejan, Kaushik, Pavan K., Malnic, Bettina, Wang, Hong, Seyed-Allaei, Shima, Yoluk, Nur, Asl, Sara Razzaghi, Justice, Jeb M., Restrepo, Diego, Reed, Danielle R., Hummel, Thomas, Munger, Steven, and Hayes, John E
Abstract: Recent anecdotal and scientific reports have provided evidence of a link between COVID-19 and chemosensory impairments such as anosmia. However, these reports have downplayed or failed to distinguish potential effects on taste, ignored chemesthesis, generally lacked quantitative measurements, and were mostly restricted to data from single countries. Here, we report the development, implementation and initial results of a multi-lingual, international questionnaire to assess self-reported quantity and quality of perception in three distinct chemosensory modalities (smell, taste, and chemesthesis) before and during COVID-19. In the first 11 days after questionnaire launch, 4039 participants (2913 women, 1118 men, 8 other, ages 19-79) reported a COVID-19 diagnosis either via laboratory tests or clinical assessment. Importantly, smell, taste and chemesthetic function were each significantly reduced compared to their status before the disease. Difference scores (maximum possible change ±100) revealed a mean reduction of smell (-79.7±28.7, mean±SD), taste (-69.0±32.6), and chemesthetic (-37.3±36.2) function during COVID-19. Qualitative changes in olfactory ability (parosmia and phantosmia) were relatively rare and correlated with smell loss. Importantly, perceived nasal obstruction did not account for smell loss. Furthermore, chemosensory impairments were similar between participants in the laboratory test and clinical assessment groups. These results show that COVID-19-associated chemosensory impairment is not limited to smell, but also affects taste and chemesthesis. The multimodal impact of COVID-19 and lack of perceived nasal obstruction suggest that SARS-CoV-2 infection may disrupt sensory-neural mechanisms. ### Competing Interest Statement The authors have declared no competing interest. ### Funding Statement This work was supported financially with discretionary funds from the Pennsylvania State University (Penn State), including a gift from James and Helen Zallie g
Published: 2020

17. More Than Smell-COVID-19 Is Associated With Severe Impairment of Smell, Taste, and Chemesthesis.

Author: Parma, Valentina, Parma, Valentina, Ohla, Kathrin, Veldhuizen, Maria G, Niv, Masha Y, Kelly, Christine E, Bakke, Alyssa J, Cooper, Keiland W, Bouysset, Cédric, Pirastu, Nicola, Dibattista, Michele, Kaur, Rishemjit, Liuzza, Marco Tullio, Pepino, Marta Y, Schöpf, Veronika, Pereda-Loth, Veronica, Olsson, Shannon B, Gerkin, Richard C, Rohlfs Domínguez, Paloma, Albayay, Javier, Farruggia, Michael C, Bhutani, Surabhi, Fjaeldstad, Alexander W, Kumar, Ritesh, Menini, Anna, Bensafi, Moustafa, Sandell, Mari, Konstantinidis, Iordanis, Di Pizio, Antonella, Genovese, Federica, Öztürk, Lina, Thomas-Danguin, Thierry, Frasnelli, Johannes, Boesveldt, Sanne, Saatci, Özlem, Saraiva, Luis R, Lin, Cailu, Golebiowski, Jérôme, Hwang, Liang-Dar, Ozdener, Mehmet Hakan, Guàrdia, Maria Dolors, Laudamiel, Christophe, Ritchie, Marina, Havlícek, Jan, Pierron, Denis, Roura, Eugeni, Navarro, Marta, Nolden, Alissa A, Lim, Juyun, Whitcroft, Katherine L, Colquitt, Lauren R, Ferdenzi, Camille, Brindha, Evelyn V, Altundag, Aytug, Macchi, Alberto, Nunez-Parra, Alexia, Patel, Zara M, Fiorucci, Sébastien, Philpott, Carl M, Smith, Barry C, Lundström, Johan N, Mucignat, Carla, Parker, Jane K, van den Brink, Mirjam, Schmuker, Michael, Fischmeister, Florian Ph S, Heinbockel, Thomas, Shields, Vonnie DC, Faraji, Farhoud, Santamaría, Enrique, Fredborg, William EA, Morini, Gabriella, Olofsson, Jonas K, Jalessi, Maryam, Karni, Noam, D'Errico, Anna, Alizadeh, Rafieh, Pellegrino, Robert, Meyer, Pablo, Huart, Caroline, Chen, Ben, Soler, Graciela M, Alwashahi, Mohammed K, Welge-Lüssen, Antje, Freiherr, Jessica, de Groot, Jasper HB, Klein, Hadar, Okamoto, Masako, Singh, Preet Bano, Hsieh, Julien W, GCCR Group Author, Reed, Danielle R, Hummel, Thomas, Munger, Steven D, Hayes, John E, Parma, Valentina, Parma, Valentina, Ohla, Kathrin, Veldhuizen, Maria G, Niv, Masha Y, Kelly, Christine E, Bakke, Alyssa J, Cooper, Keiland W, Bouysset, Cédric, Pirastu, Nicola, Dibattista, Michele, Kaur, Rishemjit, Liuzza, Marco Tullio, Pepino, Marta Y, Schöpf, Veronika, Pereda-Loth, Veronica, Olsson, Shannon B, Gerkin, Richard C, Rohlfs Domínguez, Paloma, Albayay, Javier, Farruggia, Michael C, Bhutani, Surabhi, Fjaeldstad, Alexander W, Kumar, Ritesh, Menini, Anna, Bensafi, Moustafa, Sandell, Mari, Konstantinidis, Iordanis, Di Pizio, Antonella, Genovese, Federica, Öztürk, Lina, Thomas-Danguin, Thierry, Frasnelli, Johannes, Boesveldt, Sanne, Saatci, Özlem, Saraiva, Luis R, Lin, Cailu, Golebiowski, Jérôme, Hwang, Liang-Dar, Ozdener, Mehmet Hakan, Guàrdia, Maria Dolors, Laudamiel, Christophe, Ritchie, Marina, Havlícek, Jan, Pierron, Denis, Roura, Eugeni, Navarro, Marta, Nolden, Alissa A, Lim, Juyun, Whitcroft, Katherine L, Colquitt, Lauren R, Ferdenzi, Camille, Brindha, Evelyn V, Altundag, Aytug, Macchi, Alberto, Nunez-Parra, Alexia, Patel, Zara M, Fiorucci, Sébastien, Philpott, Carl M, Smith, Barry C, Lundström, Johan N, Mucignat, Carla, Parker, Jane K, van den Brink, Mirjam, Schmuker, Michael, Fischmeister, Florian Ph S, Heinbockel, Thomas, Shields, Vonnie DC, Faraji, Farhoud, Santamaría, Enrique, Fredborg, William EA, Morini, Gabriella, Olofsson, Jonas K, Jalessi, Maryam, Karni, Noam, D'Errico, Anna, Alizadeh, Rafieh, Pellegrino, Robert, Meyer, Pablo, Huart, Caroline, Chen, Ben, Soler, Graciela M, Alwashahi, Mohammed K, Welge-Lüssen, Antje, Freiherr, Jessica, de Groot, Jasper HB, Klein, Hadar, Okamoto, Masako, Singh, Preet Bano, Hsieh, Julien W, GCCR Group Author, Reed, Danielle R, Hummel, Thomas, Munger, Steven D, and Hayes, John E
Abstract: Recent anecdotal and scientific reports have provided evidence of a link between COVID-19 and chemosensory impairments, such as anosmia. However, these reports have downplayed or failed to distinguish potential effects on taste, ignored chemesthesis, and generally lacked quantitative measurements. Here, we report the development, implementation, and initial results of a multilingual, international questionnaire to assess self-reported quantity and quality of perception in 3 distinct chemosensory modalities (smell, taste, and chemesthesis) before and during COVID-19. In the first 11 days after questionnaire launch, 4039 participants (2913 women, 1118 men, and 8 others, aged 19-79) reported a COVID-19 diagnosis either via laboratory tests or clinical assessment. Importantly, smell, taste, and chemesthetic function were each significantly reduced compared to their status before the disease. Difference scores (maximum possible change ±100) revealed a mean reduction of smell (-79.7 ± 28.7, mean ± standard deviation), taste (-69.0 ± 32.6), and chemesthetic (-37.3 ± 36.2) function during COVID-19. Qualitative changes in olfactory ability (parosmia and phantosmia) were relatively rare and correlated with smell loss. Importantly, perceived nasal obstruction did not account for smell loss. Furthermore, chemosensory impairments were similar between participants in the laboratory test and clinical assessment groups. These results show that COVID-19-associated chemosensory impairment is not limited to smell but also affects taste and chemesthesis. The multimodal impact of COVID-19 and the lack of perceived nasal obstruction suggest that severe acute respiratory syndrome coronavirus strain 2 (SARS-CoV-2) infection may disrupt sensory-neural mechanisms.
Published: 2020

18. More Than Smell—COVID-19 Is Associated With Severe Impairment of Smell, Taste, and Chemesthesis

Author: Parma, Valentina, Ohla, Kathrin, Veldhuizen, Maria G., Niv, Masha Y., Kelly, Christine E., Bakke, Alyssa J., Cooper, Keiland W., Bouysset, Cédric, Pirastu, Nicola, Dibattista, Michele, Kaur, Rishemjit, Liuzza, Marco Tullio, Pepino, Marta Y., Schöpf, Veronika, Pereda-Loth, Veronica, Olsson, Shannon B., Gerkin, Richard C., Dominguez, Paloma Rohlfs, Albayay, Javier, Farruggia, Michael C., Bhutani, Surabhi, Fjaeldstad, Alexander W., Kumar, Ritesh, Menini, Anna, Bensafi, Moustafa, Sandell, Mari, Konstantinidis, Iordanis, Di Pizio, Antonella, Genovese, Federica, Öztürk, Lina, Thomas-Danguin, Thierry, Frasnelli, Johannes, Boesveldt, Sanne, Saatci, Özlem, Saraiva, Luis R., Lin, Cailu, Golebiowski, Jérôme, Hwang, Liang-Dar, Ozdener, Mehmet Hakan, Guàrdia, Maria Dolors, Laudamiel, Christophe, Ritchie, Marina, Havlícek, Jan, Pierron, Denis, Roura, Eugeni, Navarro, Marta, Nolden, Alissa A., Lim, Juyun, Whitcroft, Katherine L., Colquitt, Lauren R., Ferdenzi, Camille, Brindha, Evelyn, Altundag, Aytug, Macchi, Alberto, Nunez-Parra, Alexia, Patel, Zara M., Fiorucci, Sébastien, Philpott, Carl M., Smith, Barry C., Lundström, Johan N., Mucignat, Carla, Parker, Jane K., van den Brink, Mirjam, Schmuker, Michael, Fischmeister, Florian Ph S., Heinbockel, Thomas, Shields, Vonnie D. C., Faraji, Farhoud, Santamaria, Enrique, Fredborg, William E. A., Morini, Gabriella, Olofsson, Jonas K., Jalessi, Maryam, Karni, Noam, D'Errico, Anna, Alizadeh, Rafieh, Pellegrino, Robert, Meyer, Pablo, Huart, Caroline, Chen, Ben, Soler, Graciela M., Alwashahi, Mohammed K., Welge-Lüssen, Antje, Freiherr, Jessica, de Groot, Jasper H. B., Klein, Hadar, Okamoto, Masako, Singh, Preet Bano, Hsieh, Julien W., Reed, Danielle R., Hummel, Thomas, Munger, Steven D., Hayes, John E., Parma, Valentina, Ohla, Kathrin, Veldhuizen, Maria G., Niv, Masha Y., Kelly, Christine E., Bakke, Alyssa J., Cooper, Keiland W., Bouysset, Cédric, Pirastu, Nicola, Dibattista, Michele, Kaur, Rishemjit, Liuzza, Marco Tullio, Pepino, Marta Y., Schöpf, Veronika, Pereda-Loth, Veronica, Olsson, Shannon B., Gerkin, Richard C., Dominguez, Paloma Rohlfs, Albayay, Javier, Farruggia, Michael C., Bhutani, Surabhi, Fjaeldstad, Alexander W., Kumar, Ritesh, Menini, Anna, Bensafi, Moustafa, Sandell, Mari, Konstantinidis, Iordanis, Di Pizio, Antonella, Genovese, Federica, Öztürk, Lina, Thomas-Danguin, Thierry, Frasnelli, Johannes, Boesveldt, Sanne, Saatci, Özlem, Saraiva, Luis R., Lin, Cailu, Golebiowski, Jérôme, Hwang, Liang-Dar, Ozdener, Mehmet Hakan, Guàrdia, Maria Dolors, Laudamiel, Christophe, Ritchie, Marina, Havlícek, Jan, Pierron, Denis, Roura, Eugeni, Navarro, Marta, Nolden, Alissa A., Lim, Juyun, Whitcroft, Katherine L., Colquitt, Lauren R., Ferdenzi, Camille, Brindha, Evelyn, Altundag, Aytug, Macchi, Alberto, Nunez-Parra, Alexia, Patel, Zara M., Fiorucci, Sébastien, Philpott, Carl M., Smith, Barry C., Lundström, Johan N., Mucignat, Carla, Parker, Jane K., van den Brink, Mirjam, Schmuker, Michael, Fischmeister, Florian Ph S., Heinbockel, Thomas, Shields, Vonnie D. C., Faraji, Farhoud, Santamaria, Enrique, Fredborg, William E. A., Morini, Gabriella, Olofsson, Jonas K., Jalessi, Maryam, Karni, Noam, D'Errico, Anna, Alizadeh, Rafieh, Pellegrino, Robert, Meyer, Pablo, Huart, Caroline, Chen, Ben, Soler, Graciela M., Alwashahi, Mohammed K., Welge-Lüssen, Antje, Freiherr, Jessica, de Groot, Jasper H. B., Klein, Hadar, Okamoto, Masako, Singh, Preet Bano, Hsieh, Julien W., Reed, Danielle R., Hummel, Thomas, Munger, Steven D., and Hayes, John E.
Abstract: Recent anecdotal and scientific reports have provided evidence of a link between COVID-19 and chemosensory impairments, such as anosmia. However, these reports have downplayed or failed to distinguish potential effects on taste, ignored chemesthesis, and generally lacked quantitative measurements. Here, we report the development, implementation, and initial results of a multilingual, international questionnaire to assess self-reported quantity and quality of perception in 3 distinct chemosensory modalities (smell, taste, and chemesthesis) before and during COVID-19. In the first 11 days after questionnaire launch, 4039 participants (2913 women, 1118 men, and 8 others, aged 19–79) reported a COVID-19 diagnosis either via laboratory tests or clinical assessment. Importantly, smell, taste, and chemesthetic function were each significantly reduced compared to their status before the disease. Difference scores (maximum possible change ±100) revealed a mean reduction of smell (−79.7 ± 28.7, mean ± standard deviation), taste (−69.0 ± 32.6), and chemesthetic (−37.3 ± 36.2) function during COVID-19. Qualitative changes in olfactory ability (parosmia and phantosmia) were relatively rare and correlated with smell loss. Importantly, perceived nasal obstruction did not account for smell loss. Furthermore, chemosensory impairments were similar between participants in the laboratory test and clinical assessment groups. These results show that COVID-19-associated chemosensory impairment is not limited to smell but also affects taste and chemesthesis. The multimodal impact of COVID-19 and the lack of perceived nasal obstruction suggest that severe acute respiratory syndrome coronavirus strain 2 (SARS-CoV-2) infection may disrupt sensory-neural mechanisms.
Published: 2020
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19. Educational attainment polygenic scores are associated with cortical total surface area and regions important for language and memory

Author: Mitchell, Brittany L., Cuéllar-Partida, Gabriel, Grasby, Katrina L., Campos, Adrian I., Strike, Lachlan T., Hwang, Liang Dar, Okbay, Aysu, Thompson, Paul M., Medland, Sarah E., Martin, Nicholas G., Wright, Margaret J., Rentería, Miguel E., Mitchell, Brittany L., Cuéllar-Partida, Gabriel, Grasby, Katrina L., Campos, Adrian I., Strike, Lachlan T., Hwang, Liang Dar, Okbay, Aysu, Thompson, Paul M., Medland, Sarah E., Martin, Nicholas G., Wright, Margaret J., and Rentería, Miguel E.
Abstract: It is well established that higher cognitive ability is associated with larger brain size. However, individual variation in intelligence exists despite brain size and recent studies have shown that a simple unifactorial view of the neurobiology underpinning cognitive ability is probably unrealistic. Educational attainment (EA) is often used as a proxy for cognitive ability since it is easily measured, resulting in large sample sizes and, consequently, sufficient statistical power to detect small associations. This study investigates the association between three global (total surface area (TSA), intra-cranial volume (ICV) and average cortical thickness) and 34 regional cortical measures with educational attainment using a polygenic scoring (PGS) approach. Analyses were conducted on two independent target samples of young twin adults with neuroimaging data, from Australia (N = 1097) and the USA (N = 723), and found that higher EA-PGS were significantly associated with larger global brain size measures, ICV and TSA (R2 = 0.006 and 0.016 respectively, p < 0.001) but not average thickness. At the regional level, we identified seven cortical regions—in the frontal and temporal lobes—that showed variation in surface area and average cortical thickness over-and-above the global effect. These regions have been robustly implicated in language, memory, visual recognition and cognitive processing. Additionally, we demonstrate that these identified brain regions partly mediate the association between EA-PGS and cognitive test performance. Altogether, these findings advance our understanding of the neurobiology that underpins educational attainment and cognitive ability, providing focus points for future research.
Published: 2020

20. More Than Smell-COVID-19 Is Associated With Severe Impairment of Smell, Taste, and Chemesthesis.

Author: UCL - SSS/IONS - Institute of NeuroScience, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service d'oto-rhino-laryngologie, Parma, Valentina, Ohla, Kathrin, Veldhuizen, Maria G, Niv, Masha Y, Kelly, Christine E, Bakke, Alyssa J, Cooper, Keiland W, Bouysset, Cédric, Pirastu, Nicola, Dibattista, Michele, Kaur, Rishemjit, Liuzza, Marco Tullio, Pepino, Marta Y, Schöpf, Veronika, Pereda-Loth, Veronica, Olsson, Shannon B, Gerkin, Richard C, Rohlfs Domínguez, Paloma, Albayay, Javier, Farruggia, Michael C, Bhutani, Surabhi, Fjaeldstad, Alexander W, Kumar, Ritesh, Menini, Anna, Bensafi, Moustafa, Sandell, Mari, Konstantinidis, Iordanis, Di Pizio, Antonella, Genovese, Federica, Öztürk, Lina, Thomas-Danguin, Thierry, Frasnelli, Johannes, Boesveldt, Sanne, Saatci, Özlem, Saraiva, Luis R, Lin, Cailu, Golebiowski, Jérôme, Hwang, Liang-Dar, Ozdener, Mehmet Hakan, Guàrdia, Maria Dolors, Laudamiel, Christophe, Ritchie, Marina, Havlícek, Jan, Pierron, Denis, Roura, Eugeni, Navarro, Marta, Nolden, Alissa A, Lim, Juyun, Whitcroft, Katherine L, Colquitt, Lauren R, Ferdenzi, Camille, Brindha, Evelyn V, Altundag, Aytug, Macchi, Alberto, Nunez-Parra, Alexia, Patel, Zara M, Fiorucci, Sébastien, Philpott, Carl M, Smith, Barry C, Lundström, Johan N, Mucignat, Carla, Parker, Jane K, van den Brink, Mirjam, Schmuker, Michael, Fischmeister, Florian Ph S, Heinbockel, Thomas, Shields, Vonnie D C, Faraji, Farhoud, Santamaría, Enrique, Fredborg, William E A, Morini, Gabriella, Olofsson, Jonas K, Jalessi, Maryam, Karni, Noam, D'Errico, Anna, Alizadeh, Rafieh, Pellegrino, Robert, Meyer, Pablo, Huart, Caroline, Chen, Ben, Soler, Graciela M, Alwashahi, Mohammed K, Welge-Lüssen, Antje, Freiherr, Jessica, de Groot, Jasper H B, Klein, Hadar, Okamoto, Masako, Singh, Preet Bano, Hsieh, Julien W, GCCR Group Author, Reed, Danielle R, Hummel, Thomas, Munger, Steven D, Hayes, John E, UCL - SSS/IONS - Institute of NeuroScience, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service d'oto-rhino-laryngologie, Parma, Valentina, Ohla, Kathrin, Veldhuizen, Maria G, Niv, Masha Y, Kelly, Christine E, Bakke, Alyssa J, Cooper, Keiland W, Bouysset, Cédric, Pirastu, Nicola, Dibattista, Michele, Kaur, Rishemjit, Liuzza, Marco Tullio, Pepino, Marta Y, Schöpf, Veronika, Pereda-Loth, Veronica, Olsson, Shannon B, Gerkin, Richard C, Rohlfs Domínguez, Paloma, Albayay, Javier, Farruggia, Michael C, Bhutani, Surabhi, Fjaeldstad, Alexander W, Kumar, Ritesh, Menini, Anna, Bensafi, Moustafa, Sandell, Mari, Konstantinidis, Iordanis, Di Pizio, Antonella, Genovese, Federica, Öztürk, Lina, Thomas-Danguin, Thierry, Frasnelli, Johannes, Boesveldt, Sanne, Saatci, Özlem, Saraiva, Luis R, Lin, Cailu, Golebiowski, Jérôme, Hwang, Liang-Dar, Ozdener, Mehmet Hakan, Guàrdia, Maria Dolors, Laudamiel, Christophe, Ritchie, Marina, Havlícek, Jan, Pierron, Denis, Roura, Eugeni, Navarro, Marta, Nolden, Alissa A, Lim, Juyun, Whitcroft, Katherine L, Colquitt, Lauren R, Ferdenzi, Camille, Brindha, Evelyn V, Altundag, Aytug, Macchi, Alberto, Nunez-Parra, Alexia, Patel, Zara M, Fiorucci, Sébastien, Philpott, Carl M, Smith, Barry C, Lundström, Johan N, Mucignat, Carla, Parker, Jane K, van den Brink, Mirjam, Schmuker, Michael, Fischmeister, Florian Ph S, Heinbockel, Thomas, Shields, Vonnie D C, Faraji, Farhoud, Santamaría, Enrique, Fredborg, William E A, Morini, Gabriella, Olofsson, Jonas K, Jalessi, Maryam, Karni, Noam, D'Errico, Anna, Alizadeh, Rafieh, Pellegrino, Robert, Meyer, Pablo, Huart, Caroline, Chen, Ben, Soler, Graciela M, Alwashahi, Mohammed K, Welge-Lüssen, Antje, Freiherr, Jessica, de Groot, Jasper H B, Klein, Hadar, Okamoto, Masako, Singh, Preet Bano, Hsieh, Julien W, GCCR Group Author, Reed, Danielle R, Hummel, Thomas, Munger, Steven D, and Hayes, John E
Abstract: Recent anecdotal and scientific reports have provided evidence of a link between COVID-19 and chemosensory impairments, such as anosmia. However, these reports have downplayed or failed to distinguish potential effects on taste, ignored chemesthesis, and generally lacked quantitative measurements. Here, we report the development, implementation, and initial results of a multilingual, international questionnaire to assess self-reported quantity and quality of perception in 3 distinct chemosensory modalities (smell, taste, and chemesthesis) before and during COVID-19. In the first 11 days after questionnaire launch, 4039 participants (2913 women, 1118 men, and 8 others, aged 19-79) reported a COVID-19 diagnosis either via laboratory tests or clinical assessment. Importantly, smell, taste, and chemesthetic function were each significantly reduced compared to their status before the disease. Difference scores (maximum possible change ±100) revealed a mean reduction of smell (-79.7 ± 28.7, mean ± standard deviation), taste (-69.0 ± 32.6), and chemesthetic (-37.3 ± 36.2) function during COVID-19. Qualitative changes in olfactory ability (parosmia and phantosmia) were relatively rare and correlated with smell loss. Importantly, perceived nasal obstruction did not account for smell loss. Furthermore, chemosensory impairments were similar between participants in the laboratory test and clinical assessment groups. These results show that COVID-19-associated chemosensory impairment is not limited to smell but also affects taste and chemesthesis. The multimodal impact of COVID-19 and the lack of perceived nasal obstruction suggest that severe acute respiratory syndrome coronavirus strain 2 (SARS-CoV-2) infection may disrupt sensory-neural mechanisms.
Published: 2020

21. More Than Smell-COVID-19 Is Associated With Severe Impairment of Smell, Taste, and Chemesthesis.

Author: Parma, Valentina, Parma, Valentina, Ohla, Kathrin, Veldhuizen, Maria G, Niv, Masha Y, Kelly, Christine E, Bakke, Alyssa J, Cooper, Keiland W, Bouysset, Cédric, Pirastu, Nicola, Dibattista, Michele, Kaur, Rishemjit, Liuzza, Marco Tullio, Pepino, Marta Y, Schöpf, Veronika, Pereda-Loth, Veronica, Olsson, Shannon B, Gerkin, Richard C, Rohlfs Domínguez, Paloma, Albayay, Javier, Farruggia, Michael C, Bhutani, Surabhi, Fjaeldstad, Alexander W, Kumar, Ritesh, Menini, Anna, Bensafi, Moustafa, Sandell, Mari, Konstantinidis, Iordanis, Di Pizio, Antonella, Genovese, Federica, Öztürk, Lina, Thomas-Danguin, Thierry, Frasnelli, Johannes, Boesveldt, Sanne, Saatci, Özlem, Saraiva, Luis R, Lin, Cailu, Golebiowski, Jérôme, Hwang, Liang-Dar, Ozdener, Mehmet Hakan, Guàrdia, Maria Dolors, Laudamiel, Christophe, Ritchie, Marina, Havlícek, Jan, Pierron, Denis, Roura, Eugeni, Navarro, Marta, Nolden, Alissa A, Lim, Juyun, Whitcroft, Katherine L, Colquitt, Lauren R, Ferdenzi, Camille, Brindha, Evelyn V, Altundag, Aytug, Macchi, Alberto, Nunez-Parra, Alexia, Patel, Zara M, Fiorucci, Sébastien, Philpott, Carl M, Smith, Barry C, Lundström, Johan N, Mucignat, Carla, Parker, Jane K, van den Brink, Mirjam, Schmuker, Michael, Fischmeister, Florian Ph S, Heinbockel, Thomas, Shields, Vonnie DC, Faraji, Farhoud, Santamaría, Enrique, Fredborg, William EA, Morini, Gabriella, Olofsson, Jonas K, Jalessi, Maryam, Karni, Noam, D'Errico, Anna, Alizadeh, Rafieh, Pellegrino, Robert, Meyer, Pablo, Huart, Caroline, Chen, Ben, Soler, Graciela M, Alwashahi, Mohammed K, Welge-Lüssen, Antje, Freiherr, Jessica, de Groot, Jasper HB, Klein, Hadar, Okamoto, Masako, Singh, Preet Bano, Hsieh, Julien W, GCCR Group Author, Reed, Danielle R, Hummel, Thomas, Munger, Steven D, Hayes, John E, Parma, Valentina, Parma, Valentina, Ohla, Kathrin, Veldhuizen, Maria G, Niv, Masha Y, Kelly, Christine E, Bakke, Alyssa J, Cooper, Keiland W, Bouysset, Cédric, Pirastu, Nicola, Dibattista, Michele, Kaur, Rishemjit, Liuzza, Marco Tullio, Pepino, Marta Y, Schöpf, Veronika, Pereda-Loth, Veronica, Olsson, Shannon B, Gerkin, Richard C, Rohlfs Domínguez, Paloma, Albayay, Javier, Farruggia, Michael C, Bhutani, Surabhi, Fjaeldstad, Alexander W, Kumar, Ritesh, Menini, Anna, Bensafi, Moustafa, Sandell, Mari, Konstantinidis, Iordanis, Di Pizio, Antonella, Genovese, Federica, Öztürk, Lina, Thomas-Danguin, Thierry, Frasnelli, Johannes, Boesveldt, Sanne, Saatci, Özlem, Saraiva, Luis R, Lin, Cailu, Golebiowski, Jérôme, Hwang, Liang-Dar, Ozdener, Mehmet Hakan, Guàrdia, Maria Dolors, Laudamiel, Christophe, Ritchie, Marina, Havlícek, Jan, Pierron, Denis, Roura, Eugeni, Navarro, Marta, Nolden, Alissa A, Lim, Juyun, Whitcroft, Katherine L, Colquitt, Lauren R, Ferdenzi, Camille, Brindha, Evelyn V, Altundag, Aytug, Macchi, Alberto, Nunez-Parra, Alexia, Patel, Zara M, Fiorucci, Sébastien, Philpott, Carl M, Smith, Barry C, Lundström, Johan N, Mucignat, Carla, Parker, Jane K, van den Brink, Mirjam, Schmuker, Michael, Fischmeister, Florian Ph S, Heinbockel, Thomas, Shields, Vonnie DC, Faraji, Farhoud, Santamaría, Enrique, Fredborg, William EA, Morini, Gabriella, Olofsson, Jonas K, Jalessi, Maryam, Karni, Noam, D'Errico, Anna, Alizadeh, Rafieh, Pellegrino, Robert, Meyer, Pablo, Huart, Caroline, Chen, Ben, Soler, Graciela M, Alwashahi, Mohammed K, Welge-Lüssen, Antje, Freiherr, Jessica, de Groot, Jasper HB, Klein, Hadar, Okamoto, Masako, Singh, Preet Bano, Hsieh, Julien W, GCCR Group Author, Reed, Danielle R, Hummel, Thomas, Munger, Steven D, and Hayes, John E
Abstract: Recent anecdotal and scientific reports have provided evidence of a link between COVID-19 and chemosensory impairments, such as anosmia. However, these reports have downplayed or failed to distinguish potential effects on taste, ignored chemesthesis, and generally lacked quantitative measurements. Here, we report the development, implementation, and initial results of a multilingual, international questionnaire to assess self-reported quantity and quality of perception in 3 distinct chemosensory modalities (smell, taste, and chemesthesis) before and during COVID-19. In the first 11 days after questionnaire launch, 4039 participants (2913 women, 1118 men, and 8 others, aged 19-79) reported a COVID-19 diagnosis either via laboratory tests or clinical assessment. Importantly, smell, taste, and chemesthetic function were each significantly reduced compared to their status before the disease. Difference scores (maximum possible change ±100) revealed a mean reduction of smell (-79.7 ± 28.7, mean ± standard deviation), taste (-69.0 ± 32.6), and chemesthetic (-37.3 ± 36.2) function during COVID-19. Qualitative changes in olfactory ability (parosmia and phantosmia) were relatively rare and correlated with smell loss. Importantly, perceived nasal obstruction did not account for smell loss. Furthermore, chemosensory impairments were similar between participants in the laboratory test and clinical assessment groups. These results show that COVID-19-associated chemosensory impairment is not limited to smell but also affects taste and chemesthesis. The multimodal impact of COVID-19 and the lack of perceived nasal obstruction suggest that severe acute respiratory syndrome coronavirus strain 2 (SARS-CoV-2) infection may disrupt sensory-neural mechanisms.
Published: 2020

22. More Than Smell-COVID-19 Is Associated With Severe Impairment of Smell, Taste, and Chemesthesis

Author: Parma, Valentina, Ohla, Kathrin, Veldhuizen, Maria G., Niv, Masha Y., Kelly, Christine E., Bakke, Alyssa J., Cooper, Keiland W., Bouysset, Cédric, Pirastu, Nicola, Dibattista, Michele, Kaur, Rishemjit, Liuzza, Marco Tullio, Pepino, Marta Y., Schöpf, Veronika, Pereda-Loth, Veronica, Olsson, Shannon B., Gerkin, Richard C., Rohlfs Domínguez, Paloma, Albayay, Javier, Farruggia, Michael C., Bhutani, Surabhi, Fjaeldstad, Alexander W., Kumar, Ritesh, Menini, Anna, Bensafi, Moustafa, Sandell, Mari, Konstantinidis, Iordanis, Di Pizio, Antonella, Genovese, Federica, Öztürk, Lina, Thomas-Danguin, Thierry, Frasnelli, Johannes, Boesveldt, Sanne, Saatci, Özlem, Saraiva, Luis R., Lin, Cailu, Golebiowski, Jérôme, Hwang, Liang Dar, Ozdener, Mehmet Hakan, Guàrdia, Maria Dolors, Laudamiel, Christophe, Ritchie, Marina, Havlícek, Jan, Pierron, Denis, Roura, Eugeni, Navarro, Marta, Nolden, Alissa A., Lim, Juyun, Whitcroft, Katherine L., Colquitt, Lauren R., Hayes III, J.E., Parma, Valentina, Ohla, Kathrin, Veldhuizen, Maria G., Niv, Masha Y., Kelly, Christine E., Bakke, Alyssa J., Cooper, Keiland W., Bouysset, Cédric, Pirastu, Nicola, Dibattista, Michele, Kaur, Rishemjit, Liuzza, Marco Tullio, Pepino, Marta Y., Schöpf, Veronika, Pereda-Loth, Veronica, Olsson, Shannon B., Gerkin, Richard C., Rohlfs Domínguez, Paloma, Albayay, Javier, Farruggia, Michael C., Bhutani, Surabhi, Fjaeldstad, Alexander W., Kumar, Ritesh, Menini, Anna, Bensafi, Moustafa, Sandell, Mari, Konstantinidis, Iordanis, Di Pizio, Antonella, Genovese, Federica, Öztürk, Lina, Thomas-Danguin, Thierry, Frasnelli, Johannes, Boesveldt, Sanne, Saatci, Özlem, Saraiva, Luis R., Lin, Cailu, Golebiowski, Jérôme, Hwang, Liang Dar, Ozdener, Mehmet Hakan, Guàrdia, Maria Dolors, Laudamiel, Christophe, Ritchie, Marina, Havlícek, Jan, Pierron, Denis, Roura, Eugeni, Navarro, Marta, Nolden, Alissa A., Lim, Juyun, Whitcroft, Katherine L., Colquitt, Lauren R., and Hayes III, J.E.
Abstract: Recent anecdotal and scientific reports have provided evidence of a link between COVID-19 and chemosensory impairments, such as anosmia. However, these reports have downplayed or failed to distinguish potential effects on taste, ignored chemesthesis, and generally lacked quantitative measurements. Here, we report the development, implementation, and initial results of a multilingual, international questionnaire to assess self-reported quantity and quality of perception in 3 distinct chemosensory modalities (smell, taste, and chemesthesis) before and during COVID-19. In the first 11 days after questionnaire launch, 4039 participants (2913 women, 1118 men, and 8 others, aged 19-79) reported a COVID-19 diagnosis either via laboratory tests or clinical assessment. Importantly, smell, taste, and chemesthetic function were each significantly reduced compared to their status before the disease. Difference scores (maximum possible change ±100) revealed a mean reduction of smell (-79.7 ± 28.7, mean ± standard deviation), taste (-69.0 ± 32.6), and chemesthetic (-37.3 ± 36.2) function during COVID-19. Qualitative changes in olfactory ability (parosmia and phantosmia) were relatively rare and correlated with smell loss. Importantly, perceived nasal obstruction did not account for smell loss. Furthermore, chemosensory impairments were similar between participants in the laboratory test and clinical assessment groups. These results show that COVID-19-associated chemosensory impairment is not limited to smell but also affects taste and chemesthesis. The multimodal impact of COVID-19 and the lack of perceived nasal obstruction suggest that severe acute respiratory syndrome coronavirus strain 2 (SARS-CoV-2) infection may disrupt sensory-neural mechanisms.
Published: 2020

23. Inference and visualization of phenome-wide causal relationships using genetic data : an application to dental caries and periodontitis

Author: Haworth, Simon, Fang Kho, Pik, Lif Holgerson, Pernilla, Hwang, Liang-Dar, Timpson, Nicholas J., Rentería, Miguel E., Johansson, Ingegerd, Cuellar-Partida, Gabriel, Haworth, Simon, Fang Kho, Pik, Lif Holgerson, Pernilla, Hwang, Liang-Dar, Timpson, Nicholas J., Rentería, Miguel E., Johansson, Ingegerd, and Cuellar-Partida, Gabriel
Abstract: Background: Hypothesis-free Mendelian randomization studies provide a way to assess the causal relevance of a trait across the human phenome but can be limited by statistical power or complicated by horizontal pleiotropy. The recently described latent causal variable (LCV) approach provides an alternative method for casual inference which might be useful in hypothesis-free experiments. Methods: We developed an automated pipeline for phenome-wide tests using the LCV approach including steps to estimate partial genetic causality, filter to a meaningful set of estimates, apply correction for multiple testing and then present the findings in a graphical summary termed a causal architecture plot. We apply this process to body mass index and lipid traits as exemplars of traits where there is strong prior expectation for causal effects and dental caries and periodontitis as exemplars of traits where there is a need for causal inference. Results: The results for lipids and BMI suggest that these traits are best viewed as creating consequences on a multitude of traits and conditions, thus providing additional evidence that supports viewing these traits as targets for interventions to improve health. On the other hand, caries and periodontitis are best viewed as a downstream consequence of other traits and diseases rather than a cause of ill health. Conclusions: The automated process is available as part of the MASSIVE pipeline from the Complex-Traits Genetics Virtual Lab (https://vl.genoma.io) and results are available in (https://view.genoma.io). We propose causal architecture plots based on phenome-wide partial genetic causality estimates as a way visualizing the overall causal map of the human phenome.
Published: 2019
Full Text: View/download PDF

24. Inference and visualization of phenome-wide causal relationships using genetic data : an application to dental caries and periodontitis

Author: Haworth, Simon, Fang Kho, Pik, Lif Holgerson, Pernilla, Hwang, Liang-Dar, Timpson, Nicholas J., Rentería, Miguel E., Johansson, Ingegerd, Cuellar-Partida, Gabriel, Haworth, Simon, Fang Kho, Pik, Lif Holgerson, Pernilla, Hwang, Liang-Dar, Timpson, Nicholas J., Rentería, Miguel E., Johansson, Ingegerd, and Cuellar-Partida, Gabriel
Abstract: Background: Hypothesis-free Mendelian randomization studies provide a way to assess the causal relevance of a trait across the human phenome but can be limited by statistical power or complicated by horizontal pleiotropy. The recently described latent causal variable (LCV) approach provides an alternative method for casual inference which might be useful in hypothesis-free experiments. Methods: We developed an automated pipeline for phenome-wide tests using the LCV approach including steps to estimate partial genetic causality, filter to a meaningful set of estimates, apply correction for multiple testing and then present the findings in a graphical summary termed a causal architecture plot. We apply this process to body mass index and lipid traits as exemplars of traits where there is strong prior expectation for causal effects and dental caries and periodontitis as exemplars of traits where there is a need for causal inference. Results: The results for lipids and BMI suggest that these traits are best viewed as creating consequences on a multitude of traits and conditions, thus providing additional evidence that supports viewing these traits as targets for interventions to improve health. On the other hand, caries and periodontitis are best viewed as a downstream consequence of other traits and diseases rather than a cause of ill health. Conclusions: The automated process is available as part of the MASSIVE pipeline from the Complex-Traits Genetics Virtual Lab (https://vl.genoma.io) and results are available in (https://view.genoma.io). We propose causal architecture plots based on phenome-wide partial genetic causality estimates as a way visualizing the overall causal map of the human phenome.
Published: 2019
Full Text: View/download PDF

25. Inference and visualization of phenome-wide causal relationships using genetic data : an application to dental caries and periodontitis

Author: Haworth, Simon, Fang Kho, Pik, Lif Holgerson, Pernilla, Hwang, Liang-Dar, Timpson, Nicholas J., Rentería, Miguel E., Johansson, Ingegerd, Cuellar-Partida, Gabriel, Haworth, Simon, Fang Kho, Pik, Lif Holgerson, Pernilla, Hwang, Liang-Dar, Timpson, Nicholas J., Rentería, Miguel E., Johansson, Ingegerd, and Cuellar-Partida, Gabriel
Abstract: Background: Hypothesis-free Mendelian randomization studies provide a way to assess the causal relevance of a trait across the human phenome but can be limited by statistical power or complicated by horizontal pleiotropy. The recently described latent causal variable (LCV) approach provides an alternative method for casual inference which might be useful in hypothesis-free experiments. Methods: We developed an automated pipeline for phenome-wide tests using the LCV approach including steps to estimate partial genetic causality, filter to a meaningful set of estimates, apply correction for multiple testing and then present the findings in a graphical summary termed a causal architecture plot. We apply this process to body mass index and lipid traits as exemplars of traits where there is strong prior expectation for causal effects and dental caries and periodontitis as exemplars of traits where there is a need for causal inference. Results: The results for lipids and BMI suggest that these traits are best viewed as creating consequences on a multitude of traits and conditions, thus providing additional evidence that supports viewing these traits as targets for interventions to improve health. On the other hand, caries and periodontitis are best viewed as a downstream consequence of other traits and diseases rather than a cause of ill health. Conclusions: The automated process is available as part of the MASSIVE pipeline from the Complex-Traits Genetics Virtual Lab (https://vl.genoma.io) and results are available in (https://view.genoma.io). We propose causal architecture plots based on phenome-wide partial genetic causality estimates as a way visualizing the overall causal map of the human phenome.
Published: 2019
Full Text: View/download PDF

26. Inference and visualization of phenome-wide causal relationships using genetic data : an application to dental caries and periodontitis

Author: Haworth, Simon, Fang Kho, Pik, Lif Holgerson, Pernilla, Hwang, Liang-Dar, Timpson, Nicholas J., Rentería, Miguel E., Johansson, Ingegerd, Cuellar-Partida, Gabriel, Haworth, Simon, Fang Kho, Pik, Lif Holgerson, Pernilla, Hwang, Liang-Dar, Timpson, Nicholas J., Rentería, Miguel E., Johansson, Ingegerd, and Cuellar-Partida, Gabriel
Abstract: Background: Hypothesis-free Mendelian randomization studies provide a way to assess the causal relevance of a trait across the human phenome but can be limited by statistical power or complicated by horizontal pleiotropy. The recently described latent causal variable (LCV) approach provides an alternative method for casual inference which might be useful in hypothesis-free experiments. Methods: We developed an automated pipeline for phenome-wide tests using the LCV approach including steps to estimate partial genetic causality, filter to a meaningful set of estimates, apply correction for multiple testing and then present the findings in a graphical summary termed a causal architecture plot. We apply this process to body mass index and lipid traits as exemplars of traits where there is strong prior expectation for causal effects and dental caries and periodontitis as exemplars of traits where there is a need for causal inference. Results: The results for lipids and BMI suggest that these traits are best viewed as creating consequences on a multitude of traits and conditions, thus providing additional evidence that supports viewing these traits as targets for interventions to improve health. On the other hand, caries and periodontitis are best viewed as a downstream consequence of other traits and diseases rather than a cause of ill health. Conclusions: The automated process is available as part of the MASSIVE pipeline from the Complex-Traits Genetics Virtual Lab (https://vl.genoma.io) and results are available in (https://view.genoma.io). We propose causal architecture plots based on phenome-wide partial genetic causality estimates as a way visualizing the overall causal map of the human phenome.
Published: 2019
Full Text: View/download PDF

27. Inference and visualization of phenome-wide causal relationships using genetic data : an application to dental caries and periodontitis

Author: Haworth, Simon, Fang Kho, Pik, Lif Holgerson, Pernilla, Hwang, Liang-Dar, Timpson, Nicholas J., Rentería, Miguel E., Johansson, Ingegerd, Cuellar-Partida, Gabriel, Haworth, Simon, Fang Kho, Pik, Lif Holgerson, Pernilla, Hwang, Liang-Dar, Timpson, Nicholas J., Rentería, Miguel E., Johansson, Ingegerd, and Cuellar-Partida, Gabriel
Abstract: Background: Hypothesis-free Mendelian randomization studies provide a way to assess the causal relevance of a trait across the human phenome but can be limited by statistical power or complicated by horizontal pleiotropy. The recently described latent causal variable (LCV) approach provides an alternative method for casual inference which might be useful in hypothesis-free experiments. Methods: We developed an automated pipeline for phenome-wide tests using the LCV approach including steps to estimate partial genetic causality, filter to a meaningful set of estimates, apply correction for multiple testing and then present the findings in a graphical summary termed a causal architecture plot. We apply this process to body mass index and lipid traits as exemplars of traits where there is strong prior expectation for causal effects and dental caries and periodontitis as exemplars of traits where there is a need for causal inference. Results: The results for lipids and BMI suggest that these traits are best viewed as creating consequences on a multitude of traits and conditions, thus providing additional evidence that supports viewing these traits as targets for interventions to improve health. On the other hand, caries and periodontitis are best viewed as a downstream consequence of other traits and diseases rather than a cause of ill health. Conclusions: The automated process is available as part of the MASSIVE pipeline from the Complex-Traits Genetics Virtual Lab (https://vl.genoma.io) and results are available in (https://view.genoma.io). We propose causal architecture plots based on phenome-wide partial genetic causality estimates as a way visualizing the overall causal map of the human phenome.
Published: 2019
Full Text: View/download PDF

28. Assessment of moderate coffee consumption and risk of epithelial ovarian cancer : a Mendelian randomization study

Author: Ong, Jue-Sheng, Hwang, Liang-Dar, Cuellar-Partida, Gabriel, Martin, Nicholas G., Chenevix-Trench, Georgia, Quinn, Michael C. J., Cornelis, Marilyn C., Gharahkhani, Puya, Webb, Penelope M., MacGregor, Stuart, Ong, Jue-Sheng, Hwang, Liang-Dar, Cuellar-Partida, Gabriel, Martin, Nicholas G., Chenevix-Trench, Georgia, Quinn, Michael C. J., Cornelis, Marilyn C., Gharahkhani, Puya, Webb, Penelope M., and MacGregor, Stuart
Abstract: Background: Coffee consumption has been shown to be associated with various health outcomes in observational studies. However, evidence for its association with epithelial ovarian cancer (EOC) is inconsistent and it is unclear whether these associations are causal. Methods: We used single nucleotide polymorphisms associated with (i) coffee and (ii) caffeine consumption to perform Mendelian randomization (MR) on EOC risk. We conducted a two-sample MR using genetic data on 44 062 individuals of European ancestry from the Ovarian Cancer Association Consortium (OCAC), and combined instrumental variable estimates using a Wald-type ratio estimator. Results: For all EOC cases, the causal odds ratio (COR) for genetically predicted consumption of one additional cup of coffee per day was 0.92 [95% confidence interval (CI): 0.79, 1.06]. The COR was 0.90 (95% CI: 0.73, 1.10) for high-grade serous EOC. The COR for genetically predicted consumption of an additional 80 mg caffeine was 1.01 (95% CI: 0.92, 1.11) for all EOC cases and 0.90 (95% CI: 0.73, 1.10) for high-grade serous cases. Conclusions: We found no evidence indicative of a strong association between EOC risk and genetically predicted coffee or caffeine levels. However, our estimates were not statistically inconsistent with earlier observational studies and we were unable to rule out small protective associations.
Published: 2018
Full Text: View/download PDF

29. Assessment of moderate coffee consumption and risk of epithelial ovarian cancer: a Mendelian randomization study

Author: Ong, J.S., Hwang, Liang-Dar, Cuellar-Partida, G., Martin, N.G., Chenevix-Trench, G., Quinn, M., Kiemeney, L.A.L.M., Massuger, L.F.A.G., Webb, P.M., MacGregor, Stuart, Ong, J.S., Hwang, Liang-Dar, Cuellar-Partida, G., Martin, N.G., Chenevix-Trench, G., Quinn, M., Kiemeney, L.A.L.M., Massuger, L.F.A.G., Webb, P.M., and MacGregor, Stuart
Abstract: Contains fulltext : 193068.pdf (publisher's version ) (Closed access)
Published: 2018

30. Assessment of moderate coffee consumption and risk of epithelial ovarian cancer: a Mendelian randomization study

Author: Ong, J.S., Hwang, Liang-Dar, Cuellar-Partida, G., Martin, N.G., Chenevix-Trench, G., Quinn, M., Kiemeney, L.A.L.M., Massuger, L.F.A.G., Webb, P.M., MacGregor, Stuart, Ong, J.S., Hwang, Liang-Dar, Cuellar-Partida, G., Martin, N.G., Chenevix-Trench, G., Quinn, M., Kiemeney, L.A.L.M., Massuger, L.F.A.G., Webb, P.M., and MacGregor, Stuart
Abstract: Contains fulltext : 193068.pdf (publisher's version ) (Closed access)
Published: 2018

31. Assessment of moderate coffee consumption and risk of epithelial ovarian cancer: a Mendelian randomization study

Author: Ong, J.S., Hwang, Liang-Dar, Cuellar-Partida, G., Martin, N.G., Chenevix-Trench, G., Quinn, M., Kiemeney, L.A.L.M., Massuger, L.F.A.G., Webb, P.M., MacGregor, Stuart, Ong, J.S., Hwang, Liang-Dar, Cuellar-Partida, G., Martin, N.G., Chenevix-Trench, G., Quinn, M., Kiemeney, L.A.L.M., Massuger, L.F.A.G., Webb, P.M., and MacGregor, Stuart
Abstract: Contains fulltext : 193068.pdf (publisher's version ) (Closed access)
Published: 2018

32. Assessment of moderate coffee consumption and risk of epithelial ovarian cancer: a Mendelian randomization study.

Author: Ong, Jue-Sheng, Ong, Jue-Sheng, Hwang, Liang-Dar, Cuellar-Partida, Gabriel, Martin, Nicholas G, Chenevix-Trench, Georgia, Quinn, Michael CJ, Cornelis, Marilyn C, Gharahkhani, Puya, Webb, Penelope M, MacGregor, Stuart, Ovarian Cancer Association Consortium, Ong, Jue-Sheng, Ong, Jue-Sheng, Hwang, Liang-Dar, Cuellar-Partida, Gabriel, Martin, Nicholas G, Chenevix-Trench, Georgia, Quinn, Michael CJ, Cornelis, Marilyn C, Gharahkhani, Puya, Webb, Penelope M, MacGregor, Stuart, and Ovarian Cancer Association Consortium
Abstract: BackgroundCoffee consumption has been shown to be associated with various health outcomes in observational studies. However, evidence for its association with epithelial ovarian cancer (EOC) is inconsistent and it is unclear whether these associations are causal.MethodsWe used single nucleotide polymorphisms associated with (i) coffee and (ii) caffeine consumption to perform Mendelian randomization (MR) on EOC risk. We conducted a two-sample MR using genetic data on 44 062 individuals of European ancestry from the Ovarian Cancer Association Consortium (OCAC), and combined instrumental variable estimates using a Wald-type ratio estimator.ResultsFor all EOC cases, the causal odds ratio (COR) for genetically predicted consumption of one additional cup of coffee per day was 0.92 [95% confidence interval (CI): 0.79, 1.06]. The COR was 0.90 (95% CI: 0.73, 1.10) for high-grade serous EOC. The COR for genetically predicted consumption of an additional 80 mg caffeine was 1.01 (95% CI: 0.92, 1.11) for all EOC cases and 0.90 (95% CI: 0.73, 1.10) for high-grade serous cases.ConclusionsWe found no evidence indicative of a strong association between EOC risk and genetically predicted coffee or caffeine levels. However, our estimates were not statistically inconsistent with earlier observational studies and we were unable to rule out small protective associations.
Published: 2018

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32 results on '"Hwang, Liang Dar"'

1. Assessment and visualization of phenome-wide causal relationships using genetic data : an application to dental caries and periodontitis

2. Genome-wide association study identifies 48 common genetic variants associated with handedness

3. Genome-wide association study identifies 48 common genetic variants associated with handedness

4. The Augmented Classical Twin Design: Incorporating Genome‐Wide Identity by Descent Sharing Into Twin Studies in Order to Model Violations of the Equal Environments Assumption

5. Corrigendum to: More Than Smell-COVID-19 Is Associated With Severe Impairment of Smell, Taste, and Chemesthesis.

6. Recent Smell Loss Is the Best Predictor of COVID-19 Among Individuals With Recent Respiratory Symptoms

7. Genome-wide association study identifies 48 common genetic variants associated with handedness.

8. Recent smell loss is the best predictor of COVID-19 among individuals with recent respiratory symptoms

9. Evaluating the role of alcohol consumption in breast and ovarian cancer susceptibility using population-based cohort studies and two-sample Mendelian randomization analyses

10. Genome-wide association study identifies 48 common genetic variants associated with handedness

11. Genome-wide association study identifies 48 common genetic variants associated with handedness

12. Corrigendum to: More Than Smell—COVID-19 Is Associated With Severe Impairment of Smell, Taste, and Chemesthesis

13. Evaluating the role of alcohol consumption in breast and ovarian cancer susceptibility using population-based cohort studies and two-sample Mendelian randomization analyses

14. Genome-wide association study identifies 48 common genetic variants associated with handedness

15. Genome-wide association study identifies 48 common genetic variants associated with handedness

16. More than just smell - COVID-19 is associated with severe impairment of smell, taste, and chemesthesis

17. More Than Smell-COVID-19 Is Associated With Severe Impairment of Smell, Taste, and Chemesthesis.

18. More Than Smell—COVID-19 Is Associated With Severe Impairment of Smell, Taste, and Chemesthesis

19. Educational attainment polygenic scores are associated with cortical total surface area and regions important for language and memory

20. More Than Smell-COVID-19 Is Associated With Severe Impairment of Smell, Taste, and Chemesthesis.

21. More Than Smell-COVID-19 Is Associated With Severe Impairment of Smell, Taste, and Chemesthesis.

22. More Than Smell-COVID-19 Is Associated With Severe Impairment of Smell, Taste, and Chemesthesis

23. Inference and visualization of phenome-wide causal relationships using genetic data : an application to dental caries and periodontitis

24. Inference and visualization of phenome-wide causal relationships using genetic data : an application to dental caries and periodontitis

25. Inference and visualization of phenome-wide causal relationships using genetic data : an application to dental caries and periodontitis

26. Inference and visualization of phenome-wide causal relationships using genetic data : an application to dental caries and periodontitis

27. Inference and visualization of phenome-wide causal relationships using genetic data : an application to dental caries and periodontitis

28. Assessment of moderate coffee consumption and risk of epithelial ovarian cancer : a Mendelian randomization study

29. Assessment of moderate coffee consumption and risk of epithelial ovarian cancer: a Mendelian randomization study

30. Assessment of moderate coffee consumption and risk of epithelial ovarian cancer: a Mendelian randomization study

31. Assessment of moderate coffee consumption and risk of epithelial ovarian cancer: a Mendelian randomization study

32. Assessment of moderate coffee consumption and risk of epithelial ovarian cancer: a Mendelian randomization study.

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32 results on '"Hwang, Liang Dar"'

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