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154 results on '"Göring, Harald H. H."'

1. Identification of a specific APOE transcript and functional elements associated with Alzheimer’s disease

Author

Chen, Qiang, Aguirre, Luis, Liang, Guoming, Zhao, Huanhuan, Dong, Tao, Borrego, Felix, de Rojas, Itziar, Hu, Qichan, Reyes, Christopher, Su, Ling-Yan, Zhang, Bao, Lechleiter, James D., Göring, Harald H. H., De Jager, Philip L., Kleinman, Joel E., Hyde, Thomas M., Li, Pan P., Ruiz, Agustín, Weinberger, Daniel R., Seshadri, Sudha, and Ma, Liang

Published
2024
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5. Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies

Author

Li, Xihao, Quick, Corbin, Zhou, Hufeng, Gaynor, Sheila M., Liu, Yaowu, Chen, Han, Selvaraj, Margaret Sunitha, Sun, Ryan, Dey, Rounak, Arnett, Donna K., Bielak, Lawrence F., Bis, Joshua C., Blangero, John, Boerwinkle, Eric, Bowden, Donald W., Brody, Jennifer A., Cade, Brian E., Correa, Adolfo, Cupples, L. Adrienne, Curran, Joanne E., de Vries, Paul S., Duggirala, Ravindranath, Freedman, Barry I., Göring, Harald H. H., Guo, Xiuqing, Haessler, Jeffrey, Kalyani, Rita R., Kooperberg, Charles, Kral, Brian G., Lange, Leslie A., Manichaikul, Ani, Martin, Lisa W., McGarvey, Stephen T., Mitchell, Braxton D., Montasser, May E., Morrison, Alanna C., Naseri, Take, O’Connell, Jeffrey R., Palmer, Nicholette D., Peyser, Patricia A., Psaty, Bruce M., Raffield, Laura M., Redline, Susan, Reiner, Alexander P., Reupena, Muagututi’a Sefuiva, Rice, Kenneth M., Rich, Stephen S., Sitlani, Colleen M., Smith, Jennifer A., Taylor, Kent D., Vasan, Ramachandran S., Willer, Cristen J., Wilson, James G., Yanek, Lisa R., Zhao, Wei, Rotter, Jerome I., Natarajan, Pradeep, Peloso, Gina M., Li, Zilin, and Lin, Xihong

Published
2023
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6. A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies

Author

Li, Zilin, Li, Xihao, Zhou, Hufeng, Gaynor, Sheila M., Selvaraj, Margaret Sunitha, Arapoglou, Theodore, Quick, Corbin, Liu, Yaowu, Chen, Han, Sun, Ryan, Dey, Rounak, Arnett, Donna K., Auer, Paul L., Bielak, Lawrence F., Bis, Joshua C., Blackwell, Thomas W., Blangero, John, Boerwinkle, Eric, Bowden, Donald W., Brody, Jennifer A., Cade, Brian E., Conomos, Matthew P., Correa, Adolfo, Cupples, L. Adrienne, Curran, Joanne E., de Vries, Paul S., Duggirala, Ravindranath, Franceschini, Nora, Freedman, Barry I., Göring, Harald H. H., Guo, Xiuqing, Kalyani, Rita R., Kooperberg, Charles, Kral, Brian G., Lange, Leslie A., Lin, Bridget M., Manichaikul, Ani, Manning, Alisa K., Martin, Lisa W., Mathias, Rasika A., Meigs, James B., Mitchell, Braxton D., Montasser, May E., Morrison, Alanna C., Naseri, Take, O’Connell, Jeffrey R., Palmer, Nicholette D., Peyser, Patricia A., Psaty, Bruce M., Raffield, Laura M., Redline, Susan, Reiner, Alexander P., Reupena, Muagututi’a Sefuiva, Rice, Kenneth M., Rich, Stephen S., Smith, Jennifer A., Taylor, Kent D., Taub, Margaret A., Vasan, Ramachandran S., Weeks, Daniel E., Wilson, James G., Yanek, Lisa R., Zhao, Wei, Rotter, Jerome I., Willer, Cristen J., Natarajan, Pradeep, Peloso, Gina M., and Lin, Xihong

Published
2022
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9. Further evidence supporting a potential role for ADH1B in obesity

Author

Morales, Liza D., Cromack, Douglas T., Tripathy, Devjit, Fourcaudot, Marcel, Kumar, Satish, Curran, Joanne E., Carless, Melanie, Göring, Harald H. H., Hu, Shirley L., Lopez-Alvarenga, Juan Carlos, Garske, Kristina M., Pajukanta, Päivi, Small, Kerrin S., Glastonbury, Craig A., Das, Swapan K., Langefeld, Carl, Hanson, Robert L., Hsueh, Wen-Chi, Norton, Luke, Arya, Rector, Mummidi, Srinivas, Blangero, John, DeFronzo, Ralph A., Duggirala, Ravindranath, and Jenkinson, Christopher P.

Published
2021
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19. Heritable changes in regional cortical thickness with age

Author

Chouinard-Decorte, Francois, McKay, D. Reese, Reid, Andrew, Khundrakpam, Budhachandra, Zhao, Lu, Karama, Sherif, Rioux, Pierre, Sprooten, Emma, Knowles, Emma, Kent, Jr., Jack W., Curran, Joanne E., Göring, Harald H. H., Dyer, Thomas D., Olvera, Rene L., Kochunov, Peter, Duggirala, Ravi, Fox, Peter T., Almasy, Laura, Blangero, John, Bellec, Pierre, Evans, Alan C., and Glahn, David C.

Published
2014
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20. The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

Author

Thompson, Paul M., Stein, Jason L., Medland, Sarah E., Hibar, Derrek P., Vasquez, Alejandro Arias, Renteria, Miguel E., Toro, Roberto, Jahanshad, Neda, Schumann, Gunter, Franke, Barbara, Wright, Margaret J., Martin, Nicholas G., Agartz, Ingrid, Alda, Martin, Alhusaini, Saud, Almasy, Laura, Almeida, Jorge, Alpert, Kathryn, Andreasen, Nancy C., Andreassen, Ole A., Apostolova, Liana G., Appel, Katja, Armstrong, Nicola J., Aribisala, Benjamin, Bastin, Mark E., Bauer, Michael, Bearden, Carrie E., Bergmann, Ørjan, Binder, Elisabeth B., Blangero, John, Bockholt, Henry J., Bøen, Erlend, Bois, Catherine, Boomsma, Dorret I., Booth, Tom, Bowman, Ian J., Bralten, Janita, Brouwer, Rachel M., Brunner, Han G., Brohawn, David G., Buckner, Randy L., Buitelaar, Jan, Bulayeva, Kazima, Bustillo, Juan R., Calhoun, Vince D., Cannon, Dara M., Cantor, Rita M., Carless, Melanie A., Caseras, Xavier, Cavalleri, Gianpiero L., Chakravarty, M. Mallar, Chang, Kiki D., Ching, Christopher R. K., Christoforou, Andrea, Cichon, Sven, Clark, Vincent P., Conrod, Patricia, Coppola, Giovanni, Crespo-Facorro, Benedicto, Curran, Joanne E., Czisch, Michael, Deary, Ian J., de Geus, Eco J. C., den Braber, Anouk, Delvecchio, Giuseppe, Depondt, Chantal, de Haan, Lieuwe, de Zubicaray, Greig I., Dima, Danai, Dimitrova, Rali, Djurovic, Srdjan, Dong, Hongwei, Donohoe, Gary, Duggirala, Ravindranath, Dyer, Thomas D., Ehrlich, Stefan, Ekman, Carl Johan, Elvsåshagen, Torbjørn, Emsell, Louise, Erk, Susanne, Espeseth, Thomas, Fagerness, Jesen, Fears, Scott, Fedko, Iryna, Fernández, Guillén, Fisher, Simon E., Foroud, Tatiana, Fox, Peter T., Francks, Clyde, Frangou, Sophia, Frey, Eva Maria, Frodl, Thomas, Frouin, Vincent, Garavan, Hugh, Giddaluru, Sudheer, Glahn, David C., Godlewska, Beata, Goldstein, Rita Z., Gollub, Randy L., Grabe, Hans J., Grimm, Oliver, Gruber, Oliver, Guadalupe, Tulio, Gur, Raquel E., Gur, Ruben C., Göring, Harald H. H., Hagenaars, Saskia, Hajek, Tomas, Hall, Geoffrey B., Hall, Jeremy, Hardy, John, Hartman, Catharina A., Hass, Johanna, Hatton, Sean N., Haukvik, Unn K., Hegenscheid, Katrin, Heinz, Andreas, Hickie, Ian B., Ho, Beng-Choon, Hoehn, David, Hoekstra, Pieter J., Hollinshead, Marisa, Holmes, Avram J., Homuth, Georg, Hoogman, Martine, Hong, L. Elliot, Hosten, Norbert, Hottenga, Jouke-Jan, Hulshoff Pol, Hilleke E., Hwang, Kristy S., Jack, Jr, Clifford R., Jenkinson, Mark, Johnston, Caroline, Jönsson, Erik G., Kahn, René S., Kasperaviciute, Dalia, Kelly, Sinead, Kim, Sungeun, Kochunov, Peter, Koenders, Laura, Krämer, Bernd, Kwok, John B. J., Lagopoulos, Jim, Laje, Gonzalo, Landen, Mikael, Landman, Bennett A., Lauriello, John, Lawrie, Stephen M., Lee, Phil H., Le Hellard, Stephanie, Lemaître, Herve, Leonardo, Cassandra D., Li, Chiang-shan, Liberg, Benny, Liewald, David C., Liu, Xinmin, Lopez, Lorna M., Loth, Eva, Lourdusamy, Anbarasu, Luciano, Michelle, Macciardi, Fabio, Machielsen, Marise W. J., MacQueen, Glenda M., Malt, Ulrik F., Mandl, René, Manoach, Dara S., Martinot, Jean-Luc, Matarin, Mar, Mather, Karen A., Mattheisen, Manuel, Mattingsdal, Morten, Meyer-Lindenberg, Andreas, McDonald, Colm, McIntosh, Andrew M., McMahon, Francis J., McMahon, Katie L., Meisenzahl, Eva, Melle, Ingrid, Milaneschi, Yuri, Mohnke, Sebastian, Montgomery, Grant W., Morris, Derek W., Moses, Eric K., Mueller, Bryon A., Muñoz Maniega, Susana, Mühleisen, Thomas W., Müller-Myhsok, Bertram, Mwangi, Benson, Nauck, Matthias, Nho, Kwangsik, Nichols, Thomas E., Nilsson, Lars-Göran, Nugent, Allison C., Nyberg, Lars, Olvera, Rene L., Oosterlaan, Jaap, Ophoff, Roel A., Pandolfo, Massimo, Papalampropoulou-Tsiridou, Melina, Papmeyer, Martina, Paus, Tomas, Pausova, Zdenka, Pearlson, Godfrey D., Penninx, Brenda W., Peterson, Charles P., Pfennig, Andrea, Phillips, Mary, Pike, G. Bruce, Poline, Jean-Baptiste, Potkin, Steven G., Pütz, Benno, Ramasamy, Adaikalavan, Rasmussen, Jerod, Rietschel, Marcella, Rijpkema, Mark, Risacher, Shannon L., Roffman, Joshua L., Roiz-Santiañez, Roberto, Romanczuk-Seiferth, Nina, Rose, Emma J., Royle, Natalie A., Rujescu, Dan, Ryten, Mina, Sachdev, Perminder S., Salami, Alireza, Satterthwaite, Theodore D., Savitz, Jonathan, Saykin, Andrew J., Scanlon, Cathy, Schmaal, Lianne, Schnack, Hugo G., Schork, Andrew J., Schulz, S. Charles, Schür, Remmelt, Seidman, Larry, Shen, Li, Shoemaker, Jody M., Simmons, Andrew, Sisodiya, Sanjay M., Smith, Colin, Smoller, Jordan W., Soares, Jair C., Sponheim, Scott R., Sprooten, Emma, Starr, John M., Steen, Vidar M., Strakowski, Stephen, Strike, Lachlan, Sussmann, Jessika, Sämann, Philipp G., Teumer, Alexander, Toga, Arthur W., Tordesillas-Gutierrez, Diana, Trabzuni, Daniah, Trost, Sarah, Turner, Jessica, Van den Heuvel, Martijn, van der Wee, Nic J., van Eijk, Kristel, van Erp, Theo G. M., van Haren, Neeltje E. M., van ‘t Ent, Dennis, van Tol, Marie-Jose, Valdés Hernández, Maria C., Veltman, Dick J., Versace, Amelia, Völzke, Henry, Walker, Robert, Walter, Henrik, Wang, Lei, Wardlaw, Joanna M., Weale, Michael E., Weiner, Michael W., Wen, Wei, Westlye, Lars T., Whalley, Heather C., Whelan, Christopher D., White, Tonya, Winkler, Anderson M., Wittfeld, Katharina, Woldehawariat, Girma, Wolf, Christiane, Zilles, David, Zwiers, Marcel P., Thalamuthu, Anbupalam, Schofield, Peter R., Freimer, Nelson B., Lawrence, Natalia S., Drevets, Wayne, and the Alzheimer’s Disease Neuroimaging Initiative, EPIGEN Consortium, IMAGEN Consortium, Saguenay Youth Study (SYS) Group

Published
2014
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21. Influence of age, sex and genetic factors on the human brain

Author

McKay, D. Reese, Knowles, Emma E. M., Winkler, Anderson A. M., Sprooten, Emma, Kochunov, Peter, Olvera, Rene L., Curran, Joanne E., Kent, Jr., Jack W., Carless, Melanie A., Göring, Harald H. H., Dyer, Thomas D., Duggirala, Ravi, Almasy, Laura, Fox, Peter T., Blangero, John, and Glahn, David C.

Published
2014
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22. Cocktail-party listening and cognitive abilities show strong pleiotropy.

Author

Mathias, Samuel R., Knowles, Emma E. M., Mollon, Josephine, Rodrigue, Amanda L., Woolsey, Mary K., Hernandez, Alyssa M., Garret, Amy S., Fox, Peter T., Olvera, Rene L., Peralta, Juan M., Kumar, Satish, Göring, Harald H. H., Duggirala, Ravi, Curran, Joanne E., Blangero, John, and Glahn, David C.

Subjects
COGNITIVE ability, RANDOM effects model, GENETIC correlations, COGNITIVE testing, COGNITION
Abstract

Introduction: The cocktail-party problem refers to the difficulty listeners face when trying to attend to relevant sounds that are mixed with irrelevant ones. Previous studies have shown that solving these problems relies on perceptual as well as cognitive processes. Previously, we showed that speech-reception thresholds (SRTs) on a cocktail-party listening task were influenced by genetic factors. Here, we estimated the degree to which these genetic factors overlapped with those influencing cognitive abilities. Methods: We measured SRTs and hearing thresholds (HTs) in 493 listeners, who ranged in age from 18 to 91 years old. The same individuals completed a cognitive test battery comprising 18 measures of various cognitive domains. Individuals belonged to large extended pedigrees, which allowed us to use variance component models to estimate the narrow-sense heritability of each trait, followed by phenotypic and genetic correlations between pairs of traits. Results: All traits were heritable. The phenotypic and genetic correlations between SRTs and HTs were modest, and only the phenotypic correlation was significant. By contrast, all genetic SRT-cognition correlations were strong and significantly different from 0. For some of these genetic correlations, the hypothesis of complete pleiotropy could not be rejected. Discussion: Overall, the results suggest that there was substantial genetic overlap between SRTs and a wide range of cognitive abilities, including abilities without a major auditory or verbal component. The findings highlight the important, yet sometimes overlooked, contribution of higher-order processes to solving the cocktail-party problem, raising an important caveat for future studies aiming to identify specific genetic factors that influence cocktail-party listening. [ABSTRACT FROM AUTHOR]

Published
2023
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25. Common genetic variants influence human subcortical brain structures

Author

Hibar, Derrek P., Stein, Jason L., Renteria, Miguel E., Arias-Vasquez, Alejandro, Desrivières, Sylvane, Jahanshad, Neda, Toro, Roberto, Wittfeld, Katharina, Abramovic, Lucija, Andersson, Micael, Aribisala, Benjamin S., Armstrong, Nicola J., Bernard, Manon, Bohlken, Marc M., Boks, Marco P., Bralten, Janita, Brown, Andrew A., Chakravarty, Mallar M., Chen, Qiang, Ching, Christopher R. K., Cuellar-Partida, Gabriel, den Braber, Anouk, Giddaluru, Sudheer, Goldman, Aaron L., Grimm, Oliver, Guadalupe, Tulio, Hass, Johanna, Woldehawariat, Girma, Holmes, Avram J., Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H., Olde Loohuis, Loes M., Luciano, Michelle, Macare, Christine, Mather, Karen A., Mattheisen, Manuel, Milaneschi, Yuri, Nho, Kwangsik, Papmeyer, Martina, Ramasamy, Adaikalavan, Risacher, Shannon L., Roiz-Santiañez, Roberto, Rose, Emma J., Salami, Alireza, Sämann, Philipp G., Schmaal, Lianne, Schork, Andrew J., Shin, Jean, Strike, Lachlan T., Teumer, Alexander, van Donkelaar, Marjolein M. J., van Eijk, Kristel R., Walters, Raymond K., Westlye, Lars T., Whelan, Christopher D., Winkler, Anderson M., Zwiers, Marcel P., Alhusaini, Saud, Athanasiu, Lavinia, Ehrlich, Stefan, Hakobjan, Marina M. H., Hartberg, Cecilie B., Haukvik, Unn K., Heister, Angelien J. G. A. M., Hoehn, David, Kasperaviciute, Dalia, Liewald, David C. M., Lopez, Lorna M., Makkinje, Remco R. R., Matarin, Mar, Naber, Marlies A. M., McKay, Reese D., Needham, Margaret, Nugent, Allison C., Pütz, Benno, Royle, Natalie A., Shen, Li, Sprooten, Emma, Trabzuni, Daniah, van der Marel, Saskia S. L., van Hulzen, Kimm J. E., Walton, Esther, Wolf, Christiane, Almasy, Laura, Ames, David, Arepalli, Sampath, Assareh, Amelia A., Bastin, Mark E., Brodaty, Henry, Bulayeva, Kazima B., Carless, Melanie A., Cichon, Sven, Corvin, Aiden, Curran, Joanne E., Czisch, Michael, de Zubicaray, Greig I., Dillman, Allissa, Duggirala, Ravi, Dyer, Thomas D., Erk, Susanne, Fedko, Iryna O., Ferrucci, Luigi, Foroud, Tatiana M., Fox, Peter T., Fukunaga, Masaki, Gibbs, Raphael J., Göring, Harald H. H., Green, Robert C., Guelfi, Sebastian, Hansell, Narelle K., Hartman, Catharina A., Hegenscheid, Katrin, Heinz, Andreas, Hernandez, Dena G., Heslenfeld, Dirk J., Hoekstra, Pieter J., Holsboer, Florian, Homuth, Georg, Hottenga, Jouke-Jan, Ikeda, Masashi, Jack, Clifford R., Jr, Jenkinson, Mark, Johnson, Robert, Kanai, Ryota, Keil, Maria, Kent, Jack W., Jr, Kochunov, Peter, Kwok, John B., Lawrie, Stephen M., Liu, Xinmin, Longo, Dan L., McMahon, Katie L., Meisenzahl, Eva, Melle, Ingrid, Mohnke, Sebastian, Montgomery, Grant W., Mostert, Jeanette C., Mühleisen, Thomas W., Nalls, Michael A., Nichols, Thomas E., Nilsson, Lars G., Nöthen, Markus M., Ohi, Kazutaka, Olvera, Rene L., Perez-Iglesias, Rocio, Pike, Bruce G., Potkin, Steven G., Reinvang, Ivar, Reppermund, Simone, Rietschel, Marcella, Romanczuk-Seiferth, Nina, Rosen, Glenn D., Rujescu, Dan, Schnell, Knut, Schofield, Peter R., Smith, Colin, Steen, Vidar M., Sussmann, Jessika E., Thalamuthu, Anbupalam, Toga, Arthur W., Traynor, Bryan J., Troncoso, Juan, Turner, Jessica A., Valdés Hernández, Maria C., van ʼt Ent, Dennis, van der Brug, Marcel, van der Wee, Nic J. A., van Tol, Marie-Jose, Veltman, Dick J., Wassink, Thomas H., Westman, Eric, Zielke, Ronald H., Zonderman, Alan B., Ashbrook, David G., Hager, Reinmar, Lu, Lu, McMahon, Francis J., Morris, Derek W., Williams, Robert W., Brunner, Han G., Buckner, Randy L., Buitelaar, Jan K., Cahn, Wiepke, Calhoun, Vince D., Cavalleri, Gianpiero L., Crespo-Facorro, Benedicto, Dale, Anders M., Davies, Gareth E., Delanty, Norman, Depondt, Chantal, Djurovic, Srdjan, Drevets, Wayne C., Espeseth, Thomas, Gollub, Randy L., Ho, Beng-Choon, Hoffmann, Wolfgang, Hosten, Norbert, Kahn, René S., Le Hellard, Stephanie, Meyer-Lindenberg, Andreas, Müller-Myhsok, Bertram, Nauck, Matthias, Nyberg, Lars, Pandolfo, Massimo, Penninx, Brenda W. J. H., Roffman, Joshua L., Sisodiya, Sanjay M., Smoller, Jordan W., van Bokhoven, Hans, van Haren, Neeltje E. M., Völzke, Henry, Walter, Henrik, Weiner, Michael W., Wen, Wei, White, Tonya, Agartz, Ingrid, Andreassen, Ole A., Blangero, John, Boomsma, Dorret I., Brouwer, Rachel M., Cannon, Dara M., Cookson, Mark R., de Geus, Eco J. C., Deary, Ian J., Donohoe, Gary, Fernández, Guillén, Fisher, Simon E., Francks, Clyde, Glahn, David C., Grabe, Hans J., Gruber, Oliver, Hardy, John, Hashimoto, Ryota, Hulshoff Pol, Hilleke E., Jönsson, Erik G., Kloszewska, Iwona, Lovestone, Simon, Mattay, Venkata S., Mecocci, Patrizia, McDonald, Colm, McIntosh, Andrew M., Ophoff, Roel A., Paus, Tomas, Pausova, Zdenka, Ryten, Mina, Sachdev, Perminder S., Saykin, Andrew J., Simmons, Andy, Singleton, Andrew, Soininen, Hilkka, Wardlaw, Joanna M., Weale, Michael E., Weinberger, Daniel R., Adams, Hieab H. H., Launer, Lenore J., Seiler, Stephan, Schmidt, Reinhold, Chauhan, Ganesh, Satizabal, Claudia L., Becker, James T., Yanek, Lisa, van der Lee, Sven J., Ebling, Maritza, Fischl, Bruce, Longstreth, W. T., Jr, Greve, Douglas, Schmidt, Helena, Nyquist, Paul, Vinke, Louis N., van Duijn, Cornelia M., Xue, Luting, Mazoyer, Bernard, Bis, Joshua C., Gudnason, Vilmundur, Seshadri, Sudha, Ikram, Arfan M., Martin, Nicholas G., Wright, Margaret J., Schumann, Gunter, Franke, Barbara, Thompson, Paul M., and Medland, Sarah E.

Published
2015
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26. Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes

Author

Wood, Andrew R., Tuke, Marcus A., Nalls, Mike, Hernandez, Dena, Gibbs, J. Raphael, Lin, Haoxiang, Xu, Christopher S., Li, Qibin, Shen, Juan, Jun, Goo, Almeida, Marcio, Tanaka, Toshiko, Perry, John R. B., Gaulton, Kyle, Rivas, Manny, Pearson, Richard, Curran, Joanne E., Johnson, Matthew P., Göring, Harald H. H., Duggirala, Ravindranath, Blangero, John, Mccarthy, Mark I., Bandinelli, Stefania, Murray, Anna, Weedon, Michael N., Singleton, Andrew, Melzer, David, Ferrucci, Luigi, and Frayling, Timothy M

Published
2015
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30. Integrating Genomic Analysis with the Genetic Basis of Gene Expression: Preliminary Evidence of the Identification of Causal Genes for Cardiovascular and Metabolic Traits Related to Nutrition in Mexicans1-3

Author

Bastarrachea, Raúl A., Gallegos-Cabriales, Esther C., Nava-González, Edna J., Haack, Karin, Voruganti, Saroja V., Charlesworth, Jac, Laviada-Molina, Hugo A., Veloz-Garza, Rosa A., Cardenas-Villarreal, Velia Margarita, Valdovinos-Chavez, Salvador B., Gomez-Aguilar, Patricia, Meléndez, Guillermo, López-Alvarenga, Juan Carlos, Göring, Harald H. H., Cole, Shelley A., Blangero, John, Comuzzie, Anthony G., and Kent, Jack W., Jr.

Published
2012
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34. Whole Genome Sequence Data From Captive Baboons Implicate RBFOX1 in Epileptic Seizure Risk.

Author

Kos, Mark Z., Carless, Melanie A., Blondell, Lucy, Leland, M. Michelle, Knape, Koyle D., Göring, Harald H. H., and Szabó, Charles Ákos

Subjects
EPILEPSY, BABOONS, GENETIC models, GENOME-wide association studies, PROTEIN-protein interactions, HERITABILITY
Abstract

In this study, we investigate the genetic determinants that underlie epilepsy in a captive baboon pedigree and evaluate the potential suitability of this non-human primate model for understanding the genetic etiology of human epilepsy. Archived whole-genome sequence data were analyzed using both a candidate gene approach that targeted variants in baboon homologs of 19 genes (n = 20,881 SNPs) previously implicated in genetic generalized epilepsy (GGE) and a more agnostic approach that examined protein-altering mutations genome-wide as assessed by snpEff (n = 36,169). Measured genotype association tests for baboon cases of epileptic seizure were performed using SOLAR, as well as gene set enrichment analyses (GSEA) and protein–protein interaction (PPI) network construction of top association hits genome-wide (p < 0.01; n = 441 genes). The maximum likelihood estimate of heritability for epileptic seizure in the pedigreed baboon sample is 0.76 (SE = 0.77; p = 0.07). Among candidate genes for GGE, a significant association was detected for an intronic SNP in RBFOX1 (p = 5.92 × 10–6; adjusted p = 0.016). For protein-altering variants, no genome-wide significant results were observed for epilepsy status. However, GSEA revealed significant positive enrichment for genes involved in the extracellular matrix structure (ECM; FDR = 0.0072) and collagen formation (FDR = 0.017), which was reflected in a major PPI network cluster. This preliminary study highlights the potential role of RBFOX1 in the epileptic baboon, a protein involved in transcriptomic regulation of multiple epilepsy candidate genes in humans and itself previously implicated in human epilepsy, both focal and generalized. Moreover, protein-damaging variants from across the genome exhibit a pattern of association that links collagen-containing ECM to epilepsy risk. These findings suggest a shared genetic etiology between baboon and human forms of GGE and lay the foundation for follow-up research. [ABSTRACT FROM AUTHOR]

Published
2021
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35. Association of differential gene expression with imatinib mesylate and omacetaxine mepesuccinate toxicity in lymphoblastoid cell lines

Author

Kulkarni Hemant, Göring Harald H H, Diego Vincent, Cole Shelley, Walder Ken R, Collier Greg R, Blangero John, and Carless Melanie A

Subjects
Chronic myeloid leukemia, Microarray, Toxicity, Gene expression, Imatinib, Omacetaxine, Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Abstract Background Imatinib mesylate is currently the drug of choice to treat chronic myeloid leukemia. However, patient resistance and cytotoxicity make secondary lines of treatment, such as omacetaxine mepesuccinate, a necessity. Given that drug cytotoxicity represents a major problem during treatment, it is essential to understand the biological pathways affected to better predict poor drug response and prioritize a treatment regime. Methods We conducted cell viability and gene expression assays to determine heritability and gene expression changes associated with imatinib and omacetaxine treatment of 55 non-cancerous lymphoblastoid cell lines, derived from 17 pedigrees. In total, 48,803 transcripts derived from Illumina Human WG-6 BeadChips were analyzed for each sample using SOLAR, whilst correcting for kinship structure. Results Cytotoxicity within cell lines was highly heritable following imatinib treatment (h2 = 0.60-0.73), but not omacetaxine treatment. Cell lines treated with an IC20 dose of imatinib or omacetaxine showed differential gene expression for 956 (1.96%) and 3,892 transcripts (7.97%), respectively; 395 of these (0.8%) were significantly influenced by both imatinib and omacetaxine treatment. k-means clustering and DAVID functional annotation showed expression changes in genes related to kinase binding and vacuole-related functions following imatinib treatment, whilst expression changes in genes related to cell division and apoptosis were evident following treatment with omacetaxine. The enrichment scores for these ontologies were very high (mostly >10). Conclusions Induction of gene expression changes related to different pathways following imatinib and omacetaxine treatment suggests that the cytotoxicity of such drugs may be differentially tolerated by individuals based on their genetic background.

Published
2012
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38. TRAK2, a novel regulator of ABCA1 expression, cholesterol efflux and HDL biogenesis.

Author

Lake, Nicole J., Taylor, Rachael L., Trahair, Hugh, Harikrishnan, K. N., Curran, Joanne E., Almeida, Marcio, Kulkarni, Hemant, Mukhamedova, Nigora, Hoang, Anh, Low, Hann, Murphy, Andrew J., Johnson, Matthew P., Dyer, Thomas D., Mahaney, Michael C., Göring, Harald H. H., Moses, Eric K., Sviridov, Dmitri, Blangero, John, Jowett, Jeremy B. M., and Bozaoglu, Kiymet

Abstract

Aims The recent failures of HDL-raising therapies have underscored our incomplete understanding of HDL biology. Therefore there is an urgent need to comprehensively investigate HDL metabolism to enable the development of effective HDL-centric therapies. To identify novel regulators of HDL metabolism, we performed a joint analysis of human genetic, transcriptomic, and plasma HDL-cholesterol (HDL-C) concentration data and identified a novel association between trafficking protein, kinesin binding 2 (TRAK2) and HDL-C concentration. Here we characterize the molecular basis of the novel association between TRAK2 and HDL-cholesterol concentration. Methods and results Analysis of lymphocyte transcriptomic data together with plasma HDL from the San Antonio Family Heart Study (n = 1240) revealed a significant negative correlation between TRAK2 mRNA levels and HDL-C concentration, HDL particle diameter and HDL subspecies heterogeneity. TRAK2 siRNA-mediated knockdown significantly increased cholesterol efflux to apolipoprotein A-I and isolated HDL from human macrophage (THP-1) and liver (HepG2) cells by increasing the mRNA and protein expression of the cholesterol transporter ATP-binding cassette, sub-family A member 1 (ABCA1). The effect of TRAK2 knockdown on cholesterol efflux was abolished in the absence of ABCA1, indicating that TRAK2 functions in an ABCA1-dependent efflux pathway. TRAK2 knockdown significantly increased liver X receptor (LXR) binding at the ABCA1 promoter, establishing TRAK2 as a regulator of LXR-mediated transcription of ABCA1. Conclusion We show, for the first time, that TRAK2 is a novel regulator of LXR-mediated ABCA1 expression, cholesterol efflux, and HDL biogenesis. TRAK2 may therefore be an important target in the development of anti-atherosclerotic therapies. [ABSTRACT FROM AUTHOR]

Published
2017
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39. Identity-by-Descent Mapping Identifies Major Locus for Serum Triglycerides in Amerindians Largely Explained by an APOC3 Founder Mutation.

Author

Wen-Chi Hsueh, Nair, Anup K., Sayuko Kobes, Peng Chen, Göring, Harald H. H., Pollin, Toni I., Malhotra, Alka, Knowler, William C., Baier, Leslie J., and Hanson, Robert L.

Abstract

Background--Identity-by-descent mapping using empirical estimates of identity-by-descent allele sharing may be useful for studies of complex traits in founder populations, where hidden relationships may augment the inherent genetic information that can be used for localization. Methods and Results--Through identity-by-descent mapping, using ≈400 000 single-nucleotide polymorphisms (SNPs), of serum lipid profiles, we identified a major linkage signal for triglycerides in 1007 Pima Indians (LOD=9.23; P=3.5×10-11 on chromosome 11q). In subsequent fine-mapping and replication association studies in ≈7500 Amerindians, we determined that this signal reflects effects of a loss-of-function Ala43Thr substitution in APOC3 (rs147210663) and 3 established functional SNPs in APOA5. The association with rs147210663 was particularly strong; each copy of the Thr allele conferred 42% lower triglycerides (β=-0.92±0.059 SD unit; P=9.6×10-55 in 4668 Pimas and 2793 Southwest Amerindians combined). The Thr allele is extremely rare in most global populations but has a frequency of 2.5% in Pimas. We further demonstrated that 3 APOA5 SNPs with established functional impact could explain the association with the most well-replicated SNP (rs964184) for triglycerides identified by genome-wide association studies. Collectively, these 4 SNPs account for 6.9% of variation in triglycerides in Pimas (and 4.1% in Southwest Amerindians), and their inclusion in the original linkage model reduced the linkage signal to virtually null. Conclusions--APOC3/APOA5 constitutes a major locus for serum triglycerides in Amerindians, especially the Pimas, and these results provide an empirical example for the concept that population-based linkage analysis is a useful strategy to identify complex trait variants. [ABSTRACT FROM AUTHOR]

Published
2017
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41. ADAM19: A Novel Target for Metabolic Syndrome in Humans and Mice.

Author

Weerasekera, Lakshini, Rudnicka, Caroline, Sang, Qing-Xiang, Curran, Joanne E., Johnson, Matthew P., Moses, Eric K., Göring, Harald H. H., Blangero, John, Hricova, Jana, Schlaich, Markus, and Matthews, Vance B.

Subjects
METABOLIC syndrome, SYNDROMES in animals, OBESITY in animals, INSULIN resistance, METALLOPROTEINASES
Abstract

Obesity is one of the most prevalent metabolic diseases in the Western world and correlates directly with insulin resistance, which may ultimately culminate in type 2 diabetes (T2D). We sought to ascertain whether the human metalloproteinase A Disintegrin and Metalloproteinase 19 (ADAM19) correlates with parameters of the metabolic syndrome in humans and mice. To determine the potential novel role of ADAM19 in the metabolic syndrome, we first conducted microarray studies on peripheral blood mononuclear cells from a well-characterised human cohort. Secondly, we examined the expression of ADAM19 in liver and gonadal white adipose tissue using an in vivo diet induced obesity mouse model. Finally, we investigated the effect of neutralising ADAM19 on diet induced weight gain, insulin resistance in vivo, and liver TNF-α levels. Significantly, we show that, in humans, ADAM19 strongly correlates with parameters of the metabolic syndrome, particularly BMI, relative fat, HOMA-IR, and triglycerides. Furthermore, we identified that ADAM19 expression was markedly increased in the liver and gonadal white adipose tissue of obese and T2D mice. Excitingly, we demonstrate in our diet induced obesity mouse model that neutralising ADAM19 therapy results in weight loss, improves insulin sensitivity, and reduces liver TNF-α levels. Our novel data suggest that ADAM19 is pro-obesogenic and enhances insulin resistance. Therefore, neutralisation of ADAM19 may be a potential therapeutic approach to treat obesity and T2D. [ABSTRACT FROM AUTHOR]

Published
2017
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42. A single nucleotide polymorphism in MGEA5 encoding O-GlcNAc-selective N-acetyl-beta-D glucosaminidase is associated with type 2 diabetes in Mexican Americans.

Author

Lehman, Donna M., Fu, Dong-Jing, Freeman, Angela B., Hunt, Kelly J., Leach, Robin J., Johnson-Pais, Teresa, Hamlington, Jeanette, Dyer, Thomas D., Arya, Rector, Abboud, Hanna, Göring, Harald H. H., Duggirala, Ravindranath, Blangero, John, Konrad, Robert J., Stern, Michael P., and Göring, Harald H H

Subjects
TYPE 2 diabetes, DIABETES, GLYCOSYLATION, GENES, MEXICAN Americans, ACETYLTRANSFERASES, ALLELES, COMPARATIVE studies, DISEASE susceptibility, ENZYMES, GENETIC polymorphisms, GLYCOSIDASES, HISPANIC Americans, RESEARCH methodology, MEDICAL cooperation, PROTEINS, RESEARCH, TRANSFERASES, TUMOR antigens, PHENOTYPES, EVALUATION research, GENOTYPES
Abstract

Excess O-glycosylation of proteins by O-linked beta-N-acetylglucosamine (O-GlcNAc) may be involved in the pathogenesis of type 2 diabetes. The enzyme O-GlcNAc-selective N-acetyl-beta-d glucosaminidase (O-GlcNAcase) encoded by MGEA5 on 10q24.1-q24.3 reverses this modification by catalyzing the removal of O-GlcNAc. We have previously reported the linkage of type 2 diabetes and age at diabetes onset to an overlapping region on chromosome 10q in the San Antonio Family Diabetes Study (SAFADS). In this study, we investigated menangioma-expressed antigen-5 (MGEA5) as a positional candidate gene. Twenty-four single nucleotide polymorphisms (SNPs), identified by sequencing 44 SAFADS subjects, were genotyped in 436 individuals from 27 families whose data were used in the original linkage report. Association tests indicated significant association of a novel SNP with the traits diabetes (P = 0.0128, relative risk = 2.77) and age at diabetes onset (P = 0.0017). The associated SNP is located in intron 10, which contains an alternate stop codon and may lead to decreased expression of the 130-kDa isoform, the isoform predicted to contain the O-GlcNAcase activity. We investigated whether this variant was responsible for the original linkage signal. The variance attributed to this SNP accounted for approximately 25% of the logarithm of odds. These results suggest that this variant within the MGEA5 gene may increase diabetes risk in Mexican Americans. [ABSTRACT FROM AUTHOR]

Published
2005
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43. Genetic loci for Epstein-Barr virus nuclear antigen-1 are associated with risk of multiple sclerosis.

Author

Zhou, Yuan, Zhu, Gu, Charlesworth, Jac C., Simpson, Steve, Rubicz, Rohina, Göring, Harald H. H., Patsopoulos, Nikolaos A., Laverty, Caroline, Wu, Feitong, Henders, Anjali, Ellis, Jonathan J., van der Mei, Ingrid, Montgomery, Grant W., Blangero, John, Curran, Joanne E., Johnson, Matthew P., Martin, Nicholas G., Nyholt, Dale R., and Taylor, Bruce V.

Subjects
EPSTEIN-Barr virus diseases, MULTIPLE sclerosis, HLA histocompatibility antigens, SINGLE nucleotide polymorphisms, IMMUNE response, DISEASE risk factors, PATIENTS
Abstract

Background: Infection with the Epstein-Barr virus (EBV) is associated with an increased risk of multiple sclerosis (MS). Objective: We sought genetic loci influencing EBV nuclear antigen-1 (EBNA-1) IgG titers and hypothesized that they may play a role in MS risk. Methods: We performed a genome-wide association study (GWAS) of anti-EBNA-1 IgG titers in 3599 individuals from an unselected twin family cohort, followed by a meta-analysis with data from an independent EBNA-1 GWAS. We then examined the shared polygenic risk between the EBNA-1 GWAS (effective sample size (Neff) = 5555) and a large MS GWAS (Neff = 15,231). Results: We identified one locus of strong association within the human leukocyte antigen (HLA) region, of which the most significantly associated genotyped single nucleotide polymorphism (SNP) was rs2516049 (p = 4.11 × 10−9). A meta-analysis including data from another EBNA-1 GWAS in a cohort of Mexican-American families confirmed that rs2516049 remained the most significantly associated SNP (p = 3.32 × 10−20). By examining the shared polygenic risk, we show that the genetic risk for elevated anti-EBNA-1 titers is positively correlated with the development of MS, and that elevated EBNA-1 titers are not an epiphenomena secondary to MS. In the joint meta-analysis of EBNA-1 titers and MS, loci at 1p22.1, 3p24.1, 3q13.33, and 10p15.1 reached genome-wide significance (p < 5 × 10−8). Conclusions: Our results suggest that apart from the confirmed HLA region, the association of anti-EBNA-1 IgG titer with MS risk is also mediated through non-HLA genes, and that studies aimed at identifying genetic loci influencing EBNA immune response provides a novel opportunity to identify new and characterize existing genetic risk factors for MS. [ABSTRACT FROM AUTHOR]

Published
2016
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44. Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss.

Author

Runge, Christina L., Indap, Amit, Yifan Zhou, Kent Jr, Jack W., King, Ericka, Erbe, Christy B., Cole, Regina, Littrell, Jack, Merath, Kate, James, Roland, Rüschendorf, Franz, Kerschner, Joseph E., Marth, Gabor, Hübner, Norbert, Göring, Harald H. H., Friedland, David R., Wai-Meng Kwok, Olivier, Michael, Zhou, Yifan, and Kent, Jack W Jr

Published
2016
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45. GWAS and transcriptional analysis prioritize ITPR1 and CNTN4 for a serum uric acid 3p26 QTL in Mexican Americans.

Author

Geetha Chittoor, Kent Jr., Jack W., Almeida, Marcio, Puppala, Sobha, Farook, Vidya S., Cole, Shelley A., Haack, Karin, Göring, Harald H. H., MacCluer, Jean W., Curran, Joanne E., Carless, Melanie A., Johnson, Matthew P., Moses, Eric K., Almasy, Laura, Mahaney, Michael C., Lehman, Donna M., Duggirala, Ravindranath, Comuzzie, Anthony G., Blangero, John, and Saroja Voruganti, Venkata

Subjects
URIC acid, PARKINSON'S disease, ALZHEIMER'S disease, REGRESSION analysis, SINGLE nucleotide polymorphisms
Abstract

Background: The variation in serum uric acid concentrations is under significant genetic influence. Elevated SUA concentrations have been linked to increased risk for gout, kidney stones, chronic kidney disease, and cardiovascular disease whereas reduced serum uric acid concentrations have been linked to multiple sclerosis, Parkinson's disease and Alzheimer's disease. Previously, we identified a novel locus on chromosome 3p26 affecting serum uric acid concentrations in Mexican Americans from San Antonio Family Heart Study. As a follow up, we examined genome-wide single nucleotide polymorphism data in an extended cohort of 1281 Mexican Americans from multigenerational families of the San Antonio Family Heart Study and the San Antonio Family Diabetes/ Gallbladder Study. We used a linear regression-based joint linkage/association test under an additive model of allelic effect, while accounting for non-independence among family members via a kinship variance component. Results: Univariate genetic analysis indicated serum uric acid concentrations to be significant heritable (h2 = 0.50 ± 0.05, p<4× 10-35), and linkage analysis of serum uric acid concentrations confirmed our previous finding of a novel locus on 3p26 (LOD = 4.9, p < 1×10-5) in the extended sample. Additionally, we observed strong association of serum uric acid concentrations with variants in following candidate genes in the 3p26 region; inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), contactin 4 (CNTN4), decapping mRNA 1A (DCP1A); transglutaminase 4 (TGM4) and rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26) [p<3× 10-7; minor allele frequencies ranged between 0.003 and 0.42] and evidence of cis-regulation for ITPR1 transcripts. Conclusion: Our results confirm the importance of the chromosome 3p26 locus and genetic variants in this region in the regulation of serum uric acid concentrations. [ABSTRACT FROM AUTHOR]

Published
2016
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48. Effects of copy number variable regions on local gene expression in white blood cells of Mexican Americans.

Author

Blackburn, August, Almeida, Marcio, Dean, Angela, Curran, Joanne E, Johnson, Matthew P, Moses, Eric K, Abraham, Lawrence J, Carless, Melanie A, Dyer, Thomas D, Kumar, Satish, Almasy, Laura, Mahaney, Michael C, Comuzzie, Anthony, Williams-Blangero, Sarah, Blangero, John, Lehman, Donna M, and Göring, Harald H H

Subjects
HUMAN genetic variation, DNA copy number variations, GENE expression, LEUCOCYTES, AUTOIMMUNITY
Abstract

Only few systematic studies on the contribution of copy number variation to gene expression variation have been published to date. Here we identify effects of copy number variable regions (CNVRs) on nearby gene expression by investigating 909 CNVRs and expression levels of 12059 nearby genes in white blood cells from Mexican-American participants of the San Antonio Family Heart Study. We empirically evaluate our ability to detect the contribution of CNVs to proximal gene expression (presumably in cis) at various window sizes (up to a 10 Mb distance) between the gene and CNV. We found a ~1-Mb window size to be optimal for capturing cis effects of CNVs. Up to 10% of the CNVs in this study were found to be significantly associated with the expression of at least one gene within their vicinity. As expected, we find that CNVs that directly overlap gene sequences have the largest effects on gene expression (compared with non-overlapping CNVRs located nearby), with positive correlation (except for a few exceptions) between estimated genomic dosage and expression level. We find that genes whose expression level is significantly influenced by nearby CNVRs are enriched for immunity and autoimmunity related genes. These findings add to the currently limited catalog of CNVRs that are recognized as expression quantitative trait loci, and have implications for future study designs as well as for prioritizing candidate causal variants in genomic regions associated with disease. [ABSTRACT FROM AUTHOR]

Published
2015
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49. Transcriptomic Identification of ADH1B as a Novel Candidate Gene for Obesity and Insulin Resistance in Human Adipose Tissue in Mexican Americans from the Veterans Administration Genetic Epidemiology Study (VAGES).

Author

Winnier, Deidre A., Fourcaudot, Marcel, Norton, Luke, Abdul-Ghani, Muhammad A., Hu, Shirley L., Farook, Vidya S., Coletta, Dawn K., Kumar, Satish, Puppala, Sobha, Chittoor, Geetha, Dyer, Thomas D., Arya, Rector, Carless, Melanie, Lehman, Donna M., Curran, Joanne E., Cromack, Douglas T., Tripathy, Devjit, Blangero, John, Duggirala, Ravindranath, and Göring, Harald H. H.

Subjects
MESSENGER RNA, INSULIN resistance, OBESITY, ADIPOSE tissues, MEXICAN Americans, VETERANS, EPIDEMIOLOGY, DISEASES
Abstract

Type 2 diabetes (T2D) is a complex metabolic disease that is more prevalent in ethnic groups such as Mexican Americans, and is strongly associated with the risk factors obesity and insulin resistance. The goal of this study was to perform whole genome gene expression profiling in adipose tissue to detect common patterns of gene regulation associated with obesity and insulin resistance. We used phenotypic and genotypic data from 308 Mexican American participants from the Veterans Administration Genetic Epidemiology Study (VAGES). Basal fasting RNA was extracted from adipose tissue biopsies from a subset of 75 unrelated individuals, and gene expression data generated on the Illumina BeadArray platform. The number of gene probes with significant expression above baseline was approximately 31,000. We performed multiple regression analysis of all probes with 15 metabolic traits. Adipose tissue had 3,012 genes significantly associated with the traits of interest (false discovery rate, FDR ≤ 0.05). The significance of gene expression changes was used to select 52 genes with significant (FDR ≤ 10-4) gene expression changes across multiple traits. Gene sets/Pathways analysis identified one gene, alcohol dehydrogenase 1B (ADH1B) that was significantly enriched (P < 10-60) as a prime candidate for involvement in multiple relevant metabolic pathways. Illumina BeadChip derived ADH1B expression data was consistent with quantitative real time PCR data. We observed significant inverse correlations with waist circumference (2.8 x 10-9), BMI (5.4 x 10-6), and fasting plasma insulin (P < 0.001). These findings are consistent with a central role for ADH1B in obesity and insulin resistance and provide evidence for a novel genetic regulatory mechanism for human metabolic diseases related to these traits. [ABSTRACT FROM AUTHOR]

Published
2015
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50. Pleiotropic locus for emotion recognition and amygdala volume identified using univariate and bivariate linkage.

Author

Knowles, Emma E. M., McKay, D. Reese, Kent, Jack W., Sprooten, Emma, Carless, Melanie A., Curran, Joanne E., de Almeida, Marcio A. A., Dyer, Thomas D., Göring, Harald H. H., Olvera, Rene L., Duggirala, Ravi, Fox, Peter T., Almasy, Laura, Blangero, John, Glahn, David C., and Kent, Jack W Jr

Abstract

Objective: The role of the amygdala in emotion recognition is well established, and amygdala volume and emotion recognition performance have each been shown separately to be highly heritable traits, but the potential role of common genetic influences on both traits has not been explored. The authors investigated the pleiotropic influences of amygdala volume and emotion recognition performance.Method: In a sample of randomly selected extended pedigrees (N=858), the authors used a combination of univariate and bivariate linkage to investigate pleiotropy between amygdala volume and emotion recognition performance and followed up with association analysis.Results: The authors found a pleiotropic region for amygdala volume and emotion recognition performance on chromosome 4q26 (LOD score=4.40). Association analysis conducted in the region underlying the bivariate linkage peak revealed a variant meeting the corrected significance level (Bonferroni-corrected p=5.01×10(-5)) within an intron of PDE5A (rs2622497, p=4.4×10(-5)) as being jointly influential on both traits. PDE5A has been implicated previously in recognition-memory deficits and is expressed in subcortical structures that are thought to underlie memory ability, including the amygdala.Conclusions: This study extends our understanding of the shared etiology between the amygdala and emotion recognition by showing that the overlap between amygdala volume and emotion recognition performance is due at least in part to common genetic influences. Moreover, this study identifies a pleiotropic locus for the two traits and an associated variant, which localizes the genetic signal even more precisely. These results, when taken in the context of previous research, highlight the potential utility of PDE5 inhibitors for ameliorating emotion recognition deficits in individuals suffering from mental or neurodegenerative illness. [ABSTRACT FROM AUTHOR]

Published
2015
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