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1. The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

Author

Acosta, Maria T., Adams, David R., Afzali, Ben, Al-Beshri, Ali, Allworth, Aimee, Alvarez, Raquel L., Alvey, Justin, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Borja, Nicholas, Botto, Lorenzo, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Callaway, Kaitlin, Carey, John, Carvalho, George, Cassini, Thomas, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Corner, Brian, Corona, Rosario I., Craigen, William J., Crouse, Andrew B., Cuddapah, Vishnu, Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Delgado, Margaret, Dell’Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douglas, Jessica, Douine, Emilie D., Earl, Dawn, Emrick, Lisa T., Eng, Christine M., Ezell, Kimberly, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Fu, Jiayu, Gahl, William A., Ganetzky, Rebecca, Glanton, Emily, Glass, Ian, Goddard, Page C., Gonzalez, Joanna M., Gropman, Andrea, Halley, Meghan C., Hamid, Rizwan, Hanchard, Neal, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yan, Hurst, Anna, Introne, Wendy, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Marie, Orpa Jean, Jobanputra, Vaidehi, Kaitryn, Emerald, Kanca, Oguz, Karasozen, Yigit, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korf, Bruce, Korrick, Susan, Krakow, Deborah, Kravets, Elijah, Lalani, Seema R., Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Latchman, Kumarie, LeBlanc, Kimberly, Lee, Brendan H., Lewis, Richard A., Liu, Pengfei, Longo, Nicola, Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, Audrey Stephannie, Mahoney, Rachel, Malicdan, May Christine V., Mao, Rong, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McConkie-Rosell, Allyn, McCray, Alexa T., Might, Matthew, Mikati, Mohamad, Miller, Danny, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Morimoto, Marie, Mulvihill, John J., Nakano-Okuno, Mariko, Nelson, Stanley F., Neumann, Serena, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Parker, Neil H., Peart, LéShon, Petcharet, Leoyklang, Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rajagopalan, Ramakrishnan, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Rebelo, Adriana, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rodriguez, Martin, Rosenfeld, Jill A., Rosenthal, Elizabeth, Rossignol, Francis, Ruzhnikov, Maura, Sabaii, Marla, Sampson, Jacinda B., Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Seto, Elaine, Shashi, Vandana, Shelkowitz, Emily, Sheppeard, Sam, Shin, Jimann, Silverman, Edwin K., Sisco, Kathy, Skelton, Tammi, Skraban, Cara, Smith, Carson A., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stergachis, Andrew, Stoler, Joan M., Sullivan, Kathleen, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Taylor, Herman, Tekin, Mustafa, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Wood, Heidi, Worley, Kim, Yamamoto, Shinya, Zhang, Zhe, Zuchner, Stephan, Findley, Laura, Ni, Weihong, Sinsheimer, Janet S., Cole, F. Session, Esteves, Cecilia, Newman, John H., and Mokry, Jill R.

Published
2024
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2. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

Author

Bacino, Carlos A., Balasubramanyam, Ashok, Burrage, Lindsay C., Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Craigen, William J., Dai, Hongzheng, Emrick, Lisa T., Ketkar, Shamika, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Marom, Ronit, Orengo, James P., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Seto, Elaine, Scott, Daryl A., Tarakad, Arjun, Tran, Alyssa A., Vogel, Tiphanie P., Hubshman, Monika Weisz, Worley, Kim, Bellen, Hugo J., Wangler, Michael F., Yamamoto, Shinya, Kanca, Oguz, Eng, Christine M., Liu, Pengfei, Ward, Patricia A., Behrens, Edward, Falk, Marni, Hassey, Kelly, Izumi, Kosuke, Kilich, Gonench, Sullivan, Kathleen, Vanderver, Adeline, Zhang, Zhe, Raper, Anna, Jobanputra, Vaidehi, Mikati, Mohamad, McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Spillmann, Rebecca C., Tan, Queenie K.-G., Walley, Nicole M., Beggs, Alan H., Berry, Gerard T., Briere, Lauren C., Cobban, Laurel A., Coggins, Matthew, Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Korrick, Susan, Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Rodan, Lance H., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walker, Melissa, Douglas, Jessica, Glanton, Emily, Kobren, Shilpa N., Kohane, Isaac S., LeBlanc, Kimberly, Maghiro, Audrey Stephannie C., Mahoney, Rachel, McCray, Alexa T., Tan, Amelia L.M., Dasari, Surendra, Lanpher, Brendan C., Lanza, Ian R., Morava, Eva, Oglesbee, Devin, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Borja, Nicholas, Gonzalez, Joanna M., Latchman, Kumarie, Peart, LéShon, Rebelo, Adriana, Smith, Carson A., Tekin, Mustafa, Thorson, Willa, Zuchner, Stephan, Taylor, Herman, Colley, Heather A., Dayal, Jyoti G., Doss, Argenia L., Eckstein, David J., Hutchison, Sarah, Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Urv, Tiina K., Acosta, Maria T., D'Souza, Precilla, Gropman, Andrea, Macnamara, Ellen F., Maduro, Valerie V., Mulvihill, John J., Novacic, Donna, Pusey Swerdzewski, Barbara N., Toro, Camilo, Wahl, Colleen E., Adams, David R., Afzali, Ben, Burke, Elizabeth A., Davis, Joie, Delgado, Margaret, Fu, Jiayu, Gahl, William A., Hanchard, Neil, Huang, Yan, Introne, Wendy, Jean-Marie, Orpa, Malicdan, May Christine V., Morimoto, Marie, Petcharet, Leoyklang, Rossignol, Francis, Sabaii, Marla, Solomon, Ben, Tifft, Cynthia J., Wolfe, Lynne A., Wood, Heidi, Allworth, Aimee, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Blue, Elizabeth, Byers, Peter, Chanprasert, Sirisak, Cunningham, Michael, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Glass, Ian, Hing, Anne, Hisama, Fuki M., Horike-Pyne, Martha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Kaitryn, Emerald, Lam, Christina, Miller, Danny, Mirzaa, Ghayda, Raskind, Wendy, Rosenthal, Elizabeth, Shelkowitz, Emily, Sheppeard, Sam, Stergachis, Andrew, Sybert, Virginia, Wener, Mark, Wenger, Tara, Alvarez, Raquel L., Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Coakley, Terra R., Fisher, Paul G., Goddard, Page C., Halley, Meghan C., Hom, Jason, Kohler, Jennefer N., Kravets, Elijah, Martin, Beth A., Marwaha, Shruti, Reuter, Chloe M., Ruzhnikov, Maura, Sampson, Jacinda B., Smith, Kevin S., Sutton, Shirley, Tabor, Holly K., Ungar, Rachel A., Wheeler, Matthew T., Ashley, Euan A., Byrd, William E., Crouse, Andrew B., Might, Matthew, Nakano-Okuno, Mariko, Whitlock, Jordan, Butte, Manish J., Corona, Rosario, Dell'Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Fogel, Brent L., Huang, Alden, Krakow, Deborah, Loo, Sandra K., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Papp, Jeanette C., Parker, Neil H., Renteria, Genecee, Sinsheimer, Janet S., Wan, Jijun, Alvey, Justin, Andrews, Ashley, Bale, Jim, Bohnsack, John, Botto, Lorenzo, Carey, John, Longo, Nicola, Moretti, Paolo, Pace, Laura, Quinlan, Aaron, Velinder, Matt, Viskochil, Dave, Marth, Gabor, Bayrak-Toydemir, Pinar, Mao, Rong, Westerfield, Monte, Bican, Anna, Cassini, Thomas, Corner, Brian, Hamid, Rizwan, Neumann, Serena, Phillips, John A., III, Rives, Lynette, Robertson, Amy K., Ezell, Kimberly, Cogan, Joy D., Hayes, Nichole, Kiley, Dana, Sisco, Kathy, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Cole, F. Sessions, Pak, Stephen, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Moulton, Matthew J., Atala, Kristhen, Zheng, Yiming, Dutta, Debdeep, Grange, Dorothy K., Lin, Wen-Wen, Wegner, Daniel J., Wambach, Jennifer A., Duker, Angela L., Bober, Michael B., Kratz, Lisa, Wise, Carol A., Oxendine, Ila, Khanshour, Anas, and Rios, Jonathan

Published
2024
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3. Multi‐phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations

Author

Temprano‐Sagrera, Gerard, Sitlani, Colleen M, Bone, William P, Martin‐Bornez, Miguel, Voight, Benjamin F, Morrison, Alanna C, Damrauer, Scott M, de Vries, Paul S, Smith, Nicholas L, Sabater‐Lleal, Maria, Dehghan, Abbas, Heath, Adam S, Reiner, Alex P, Johnson, Andrew, Richmond, Anne, Peters, Annette, van Hylckama Vlieg, Astrid, McKnight, Barbara, Psaty, Bruce M, Hayward, Caroline, Ward‐Caviness, Cavin, O’Donnell, Christopher, Chasman, Daniel, Strachan, David P, Tregouet, David A, Mook‐Kanamori, Dennis, Gill, Dipender, Thibord, Florian, Asselbergs, Folkert W, Leebeek, Frank WG, Rosendaal, Frits R, Davies, Gail, Homuth, Georg, Temprano, Gerard, Campbell, Harry, Taylor, Herman A, Bressler, Jan, Huffman, Jennifer E, Rotter, Jerome I, Yao, Jie, Wilson, James F, Bis, Joshua C, Hahn, Julie M, Desch, Karl C, Wiggins, Kerri L, Raffield, Laura M, Bielak, Lawrence F, Yanek, Lisa R, Kleber, Marcus E, Mueller, Martina, Kavousi, Maryam, Mangino, Massimo, Liu, Melissa, Brown, Michael R, Conomos, Matthew P, Jhun, Min‐A, Chen, Ming‐Huei, de Maat, Moniek PM, Pankratz, Nathan, Peyser, Patricia A, Elliot, Paul, Wei, Peng, Wild, Philipp S, Morange, Pierre E, van der Harst, Pim, Yang, Qiong, Le, Ngoc‐Quynh, Marioni, Riccardo, Li, Ruifang, Cox, Simon R, Trompet, Stella, Felix, Stephan B, Völker, Uwe, Tang, Weihong, Koenig, Wolfgang, Jukema, J Wouter, Guo, Xiuqing, Lindstrom, Sara, Wang, Lu, Smith, Erin N, Gordon, William, de Andrade, Mariza, Brody, Jennifer A, Pattee, Jack W, Haessler, Jeffrey, Brumpton, Ben M, Chasman, Daniel I, Suchon, Pierre, Turman, Constance, Germain, Marine, MacDonald, James, and Braekkan, Sigrid K

Subjects
Genetics, Biotechnology, Human Genome, Atherosclerosis, Prevention, Cardiovascular, Hematology, 2.1 Biological and endogenous factors, Aetiology, Cardiovascular Diseases, Factor XI, Genetic Predisposition to Disease, Genome-Wide Association Study, Hemostasis, Hemostatics, Humans, Phenotype, Polymorphism, Single Nucleotide, Tissue Plasminogen Activator, blood coagulation, cardiovascular diseases, genetic pleiotropy, genome-wide association study, hemostasis, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Cardiovascular System & Hematology
Abstract

BackgroundMulti-phenotype analysis of genetically correlated phenotypes can increase the statistical power to detect loci associated with multiple traits, leading to the discovery of novel loci. This is the first study to date to comprehensively analyze the shared genetic effects within different hemostatic traits, and between these and their associated disease outcomes.ObjectivesTo discover novel genetic associations by combining summary data of correlated hemostatic traits and disease events.MethodsSummary statistics from genome wide-association studies (GWAS) from seven hemostatic traits (factor VII [FVII], factor VIII [FVIII], von Willebrand factor [VWF] factor XI [FXI], fibrinogen, tissue plasminogen activator [tPA], plasminogen activator inhibitor 1 [PAI-1]) and three major cardiovascular (CV) events (venous thromboembolism [VTE], coronary artery disease [CAD], ischemic stroke [IS]), were combined in 27 multi-trait combinations using metaUSAT. Genetic correlations between phenotypes were calculated using Linkage Disequilibrium Score Regression (LDSC). Newly associated loci were investigated for colocalization. We considered a significance threshold of 1.85 × 10-9 obtained after applying Bonferroni correction for the number of multi-trait combinations performed (n = 27).ResultsAcross the 27 multi-trait analyses, we found 4 novel pleiotropic loci (XXYLT1, KNG1, SUGP1/MAU2, TBL2/MLXIPL) that were not significant in the original individual datasets, were not described in previous GWAS for the individual traits, and that presented a common associated variant between the studied phenotypes.ConclusionsThe discovery of four novel loci contributes to the understanding of the relationship between hemostasis and CV events and elucidate common genetic factors between these traits.

Published
2022

5. A multitrait genetic study of hemostatic factors and hemorrhagic transformation after stroke treatment

Author

Dehghan, Abbas, Heath, Adam S., Morrison, Alanna C., Reiner, Alex P., Johnson, Andrew, Richmond, Anne, Peters, Annette, van Hylckama Vlieg, Astrid, McKnight, Barbara, Psaty, Bruce M., Hayward, Caroline, Ward-Caviness, Cavin, O’Donnell, Christopher, Chasman, Daniel, Strachan, David P., Tregouet, David A., Mook-Kanamori, Dennis, Gill, Dipender, Thibord, Florian, Asselbergs, Folkert W., Leebeek, Frank W.G., Rosendaal, Frits R., Davies, Gail, Homuth, Georg, Temprano, Gerard, Campbell, Harry, Taylor, Herman A., Bressler, Jan, Huffman, Jennifer E., Rotter, Jerome I., Yao, Jie, Wilson, James F., Bis, Joshua C., Hahn, Julie M., Desch, Karl C., Wiggins, Kerri L., Díez-Ahijado, Laia, Raffield, Laura M., Bielak, Lawrence F., Yanek, Lisa R., Kleber, Marcus E., Sabater-Lleal, Maria, Mueller, Martina, Kavousi, Maryam, Mangino, Massimo, Conomos, Matthew P., Liu, Melissa, Brown, Michael R., Jhun, Min-A, Chen, Ming-Huei, de Maat, Moniek P.M., Pankratz, Nathan, Smith, Nicholas L., Peyser, Patricia A., Elliot, Paul, de Vries, Paul S., Wei, Peng, Wild, Philipp S., Morange, Pierre E., van der Harst, Pim, Yang, Qiong, Marioni, Riccardo, Li, Ruifang, Damrauer, Scott M., Cox, Simon R., Trompet, Stella, Felix, Stephan B., Völker, Uwe, Tang, Weihong, Koenig, Wolfgang, Jukema, J. Wouter, Guo, Xiuqing, Gallego-Fabrega, Cristina, Temprano-Sagrera, Gerard, Cárcel-Márquez, Jara, Muiño, Elena, Cullell, Natalia, Lledós, Miquel, Llucià-Carol, Laia, Martin-Campos, Jesús M., Sobrino, Tomás, Castillo, José, Millán, Mònica, Muñoz-Narbona, Lucía, López-Cancio, Elena, Ribó, Marc, Alvarez-Sabin, Jose, Jiménez-Conde, Jordi, Roquer, Jaume, Tur, Silvia, Obach, Victor, Arenillas, Juan F., Segura, Tomas, Serrano-Heras, Gemma, Marti-Fabregas, Joan, Freijo-Guerrero, Marimar, Moniche, Francisco, Castellanos, Maria del Mar, and Fernández-Cadenas, Israel

Published
2024
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6. De novo variants in DENND5B cause a neurodevelopmental disorder

Author

Acosta, Maria T., Adams, David R., Alvarez, Raquel L., Alvey, Justin, Allworth, Aimee, Andrews, Ashley, Ashley, Euan A., Afzali, Ben, Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, HsiaoTuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Delgado, Margaret, Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fu, Jiayu, Gahl, William A., Glass, Ian, Goddard, Page C., Godfrey, Rena A., Grajewski, Alana, Gropman, Andrea, Halley, Meghan C., Hamid, Rizwan, Hanchard, Neal, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yan, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Kaitryn, Emerald, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, AudreyStephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Might, Matthew, Miller, Danny, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Morimoto, Marie, Mulvihill, John J., Nakano-Okuno, Mariko, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Papp, Jeanette C., Parker, Neil H., Petcharet, Leoyklang, Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Swerdzewski, Barbara N. Pusey, Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenthal, Elizabeth, Rossignol, Francis, Ruzhnikov, Maura, Sabaii, Marla, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Seto, Elaine, Sharma, Prashant, Shashi, Vandana, Shelkowitz, Emily, Sheppeard, Sam, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stergachis, Andrew, Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Taylor, Herman, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Weisz Hubshman, Monika, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Yamamoto, Shinya, Zhang, Zhe, Zuchner, Stephan, Scala, Marcello, Tomati, Valeria, Ferla, Matteo, Lena, Mariateresa, Cohen, Julie S., Fatemi, Ali, Brokamp, Elly, Koziura, Mary E., Nicouleau, Michael, Rio, Marlene, Siquier, Karine, Boddaert, Nathalie, Musante, Ilaria, Tamburro, Serena, Baldassari, Simona, Iacomino, Michele, Scudieri, Paolo, Bellus, Gary, Reed, Sara, Al Saif, Hind, Russo, Rossana Sanchez, Walsh, Matthew B., Cantagrel, Vincent, Crunk, Amy, Gustincich, Stefano, Ruggiero, Sarah M., Fitzgerald, Mark P., Helbig, Ingo, Striano, Pasquale, Severino, Mariasavina, Salpietro, Vincenzo, Pedemonte, Nicoletta, and Zara, Federico

Published
2024
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7. Neighborhood characteristics and ideal cardiovascular health among Black adults: results from the Morehouse-Emory Cardiovascular (MECA) Center for Health Equity

Author

Islam, Shabatun J, Kim, Jeong Hwan, Baltrus, Peter, Topel, Matthew L, Liu, Chang, Ko, Yi-An, Mujahid, Mahasin S, Vaccarino, Viola, Sims, Mario, Mubasher, Mohamed, Khan, Ahsan, Ejaz, Kiran, Searles, Charles, Dunbar, Sandra, Pemu, Priscilla, Taylor, Herman A, Quyyumi, Arshed A, and Lewis, Tené T

Subjects
Cardiovascular, Behavioral and Social Science, Prevention, Aetiology, 2.3 Psychological, social and economic factors, Adenosine, Adult, Blood Pressure, Body Mass Index, Cardiovascular Diseases, Female, Health Equity, Health Status, Humans, Male, Middle Aged, Neighborhood Characteristics, Risk Factors, Disparities, Neighborhood, Cardiovascular health, Cardiovascular disease risk factors, African Americans, Black adults, Medical and Health Sciences, Epidemiology
Abstract

PurposeNeighborhood environment is increasingly recognized as an important determinant of cardiovascular health (CVH) among Black adults. Most research to date has focused on negative aspects of the neighborhood environment, with little attention being paid to the specific positive features, in particular the social environment, that promote cardiovascular resilience among Black adults.We examined whether better neighborhood physical and social characteristics are associated with ideal CVH among Black adults, as measured by Life's Simple 7 (LS7) scores.MethodsWe recruited 392 Black adults (age 53 ± 10 years, 39% men) without known CV disease living in Atlanta, GA. Seven neighborhood domains were assessed via questionnaire: asthetic quality, walking environment, safety, food access, social cohesion, activity with neighbors, and violence. CVH was determined by LS7 scores calculated from measured blood pressure; glucose; cholesterol; body mass index (BMI); and self-reported exercise, diet, and smoking, and categorized into poor (0-8), intermediate (9-10), and ideal (11-14). Multinomial logistic regression was used to examine the association between neighborhood characteristics and the odds of intermediate/ideal CVH categories compared with poor CVH after adjustment for age, gender, household income, education, marital status, and employment status.ResultsBetter scores in the neighborhood domains of social cohesion and activity with neighbors were significantly associated with higher adjusted odds of ideal LS7 scores (OR 2.02, 95% CI [1.36-3.01] and 1.71 [1.20-2.45] per 1 standard deviation [SD] increase in respective scores). These associations were stronger for both social cohesion (OR 2.61, 95% CI [1.48-4.61] vs. 1.40 [0.82-2.40]) and activity with neighbors (OR 1.82, 95% CI [1.15-2.86] vs. 1.53 [0.84-2.78]) in Black women than men. Specifically, better scores in social cohesion were associated with higher odds of ideal CVH in exercise (OR 1.73 [1.16-2.59]), diet (OR 1.90 [1.11-3.26]), and BMI (OR 1.52 [1.09-2.09]); better scores in activity with neighbors were also similarly associated with higher odds of ideal CVH in exercise (OR 1.48 [1.00-2.19]), diet (OR 2.15 [1.23-3.77]), and BMI (OR 1.45 [1.07-1.98]; per 1 SD in respective scores).ConclusionsMore desirable neighborhood characteristics, particularly social cohesion and activity with neighbors, were associated with better CVH among Black adults.

Published
2022

8. Association Between Early Trauma and Ideal Cardiovascular Health Among Black Americans: Results From the Morehouse-Emory Cardiovascular (MECA) Center for Health Equity.

Author

Islam, Shabatun J, Hwan Kim, Jeong, Joseph, Emma, Topel, Matthew, Baltrus, Peter, Liu, Chang, Ko, Yi-An, Almuwaqqat, Zakaria, Mujahid, Mahasin S, Sims, Mario, Mubasher, Mohamed, Ejaz, Kiran, Searles, Charles, Dunbar, Sandra B, Pemu, Priscilla, Taylor, Herman, Bremner, J Douglas, Vaccarino, Viola, Quyyumi, Arshed A, and Lewis, Tené T

Subjects
Humans, Cardiovascular Diseases, Blood Glucose, Body Mass Index, Exercise, Risk Factors, Blood Pressure, Adolescent, Adult, Middle Aged, American Heart Association, United States, Female, Male, Health Equity, Black or African American, adverse childhood experiences, cardiovascular disease, emotional abuse, health equity, obesity, risk factors, smoking, Heart Disease, Physical Injury - Accidents and Adverse Effects, Basic Behavioral and Social Science, Cardiovascular, Nutrition, Behavioral and Social Science, Aging, Prevention, Clinical Research, Aetiology, 2.3 Psychological, social and economic factors, Good Health and Well Being, Cardiorespiratory Medicine and Haematology, Public Health and Health Services, Cardiovascular System & Hematology
Abstract

BackgroundEarly trauma (general, emotional, physical, and sexual abuse before age 18 years) has been associated with both cardiovascular disease risk and lifestyle-related risk factors for cardiovascular disease, including smoking, obesity, and physical inactivity. Despite higher prevalence, the association between early trauma and cardiovascular health (CVH) has been understudied in Black Americans, especially those from low-income backgrounds, who may be doubly vulnerable. Therefore, we investigated the association between early trauma and CVH, particularly among low-income Black Americans.MethodsWe recruited 457 Black adults (age 53±10, 38% male) without known cardiovascular disease from the Atlanta, GA, metropolitan area using personalized, community-based recruitment methods. The Early Trauma Inventory was administered to assess overall early traumatic life experiences which include physical, sexual, emotional abuse, and general trauma. Our primary outcome was the American Heart Association Life's Simple 7, which is a set of 7 CVH metrics, including 4 lifestyle-related factors (smoking, body mass index, physical activity, and diet) and three physiologically measured health factors (blood pressure, total blood cholesterol, and blood glucose). We used linear regression models adjusting for age, sex, socioeconomic status, and depression to test the association between early trauma and CVH and tested the early trauma by household income (

Published
2021

9. Identifying neighbourhood and individual resilience profiles for cardiovascular health: a cross-sectional study of blacks living in the Atlanta metropolitan area

Author

Ko, Yi-An, Shen, Jenny, Kim, Jeong Hwan, Topel, Matthew, Mujahid, Mahasin, Taylor, Herman, Quyyumi, Arshed, Sims, Mario, Vaccarino, Viola, Baltrus, Peter, and Lewis, Tene

Subjects
Public Health, Health Sciences, Cardiovascular, Behavioral and Social Science, Pediatric Research Initiative, Clinical Research, Good Health and Well Being, Adult, Black or African American, Aged, Bayes Theorem, Cardiovascular Diseases, Cross-Sectional Studies, Female, Georgia, Humans, Male, Middle Aged, Risk Factors, United States, coronary heart disease, epidemiology, mental health, Clinical Sciences, Public Health and Health Services, Other Medical and Health Sciences, Biomedical and clinical sciences, Health sciences, Psychology
Abstract

ObjectiveTo simultaneously examine multiple individual-level neighbourhood perceptions and psychosocial characteristics and their relationships with cardiovascular health (CVH) among blacks.DesignCross-sectional study.SettingSubjects were recruited between 2016 and 2018 via convenience sampling.Participants385 Black men and women, age 30-70 living in the Atlanta metropolitan area (Georgia, USA).Primary outcome measureIndividual's CVH was summarised as a composite score using American Heart Association's Life's Simple 7 (LS7) metrics.MethodsWe implemented unsupervised learning (k-means) and supervised learning (Bayesian Dirichlet process clustering) to identify clusters based on 11 self-reported neighbourhood perception and psychosocial characteristics. We also performed principal component analysis to summarise neighbourhood perceptions and psychosocial variables and assess their associations with LS7 scores.ResultsK-means and Bayesian clustering resulted in 4 and 5 clusters, respectively. Based on the posterior distributions, higher LS7 scores were associated with better neighbourhood perceptions and psychosocial characteristics, including neighbourhood safety, social cohesion, activities with neighbours, environmental mastery, purpose in life, resilient coping and no depression. Taken together, the first principal components of neighbourhood perceptions and psychosocial characteristics were associated with an increase of 0.07 (95% CI -0.17 to 0.31) and 0.31 (95% CI 0.06 to 0.55) in LS7 score, respectively, after accounting for age, sex, household income and education level.ConclusionBoth neighbourhood perception and psychosocial domains were related to CVH, but individual psychosocial characteristics appeared to contribute to CVH most. Approaches that acknowledge the importance of factors in both domains may prove most beneficial for enhancing resilience and promoting CVH among black communities.

Published
2021

12. Individual Psychosocial Resilience, Neighborhood Context, and Cardiovascular Health in Black Adults

Author

Kim, Jeong Hwan, Islam, Shabatun J, Topel, Matthew L, Ko, Yi-An, Mujahid, Mahasin S, Vaccarino, Viola, Liu, Chang, Sims, Mario, Mubasher, Mohamed, Searles, Charles D, Dunbar, Sandra B, Pemu, Priscilla, Taylor, Herman A, Quyyumi, Arshed A, Baltrus, Peter, and Lewis, Tené T

Subjects
Epidemiology, Public Health, Health Sciences, Basic Behavioral and Social Science, Behavioral and Social Science, Cardiovascular, Prevention, Good Health and Well Being, Adult, Black or African American, Cardiovascular Diseases, Cross-Sectional Studies, Female, Georgia, Health Equity, Health Status Disparities, Healthcare Disparities, Healthy Lifestyle, Humans, Male, Middle Aged, Race Factors, Residence Characteristics, Resilience, Psychological, Risk Assessment, Risk Factors, Risk Reduction Behavior, Social Determinants of Health, cardiovascular diseases, epidemiology, morbidity, racial disparities, resilience, risk factors, Cardiorespiratory Medicine and Haematology, Public Health and Health Services, Cardiovascular System & Hematology, Cardiovascular medicine and haematology, Public health
Abstract

BackgroundDespite well-documented cardiovascular disparities between racial groups, within-race determinants of cardiovascular health among Black adults remain understudied. Factors promoting cardiovascular resilience among Black adults in particular warrant further investigation. Our objective was to examine whether individual psychosocial resilience and neighborhood-level cardiovascular resilience were associated with better cardiovascular health in Black adults, measured utilizing Life's Simple 7 (LS7) scores.MethodsWe assessed LS7 scores in 389 Black adults (mean age, 53±10 years; 39% men) living in Atlanta, Georgia. A composite score of individual psychosocial resilience was created by assessing environmental mastery, purpose in life, optimism, resilient coping, and depressive symptoms. Neighborhood-level cardiovascular resilience was separately determined by the census tract-level rates of cardiovascular mortality/morbidity events. Generalized linear mixed regression models were used to examine the association between individual psychosocial resilience, neighborhood cardiovascular resilience, and LS7 scores.ResultsHigher individual psychosocial resilience was significantly associated with higher LS7 (β=0.38 [0.16-0.59] per 1 SD) after adjustment for sociodemographic factors. Similarly, higher neighborhood-level cardiovascular resilience was significantly associated with higher LS7 (β=0.23 [0.02-0.45] per 1 SD). When jointly examined, high individual psychosocial resilience (>median) was independently associated with higher LS7 (β=0.73 [0.31-1.17]), whereas living in high-resilience neighborhoods (>median) was not. The largest difference in LS7 score was between those with high and low psychosocial resilience living in low-resilience neighborhoods (8.38 [7.90-8.86] versus 7.42 [7.04-7.79]).ConclusionsIndividual psychosocial resilience in Black adults is associated with better cardiovascular health.

Published
2020

13. Cardiovascular Risk and Resilience Among Black Adults: Rationale and Design of the MECA Study

Author

Islam, Shabatun J, Kim, Jeong Hwan, Topel, Matthew, Liu, Chang, Ko, Yi‐An, Mujahid, Mahasin S, Sims, Mario, Mubasher, Mohamed, Ejaz, Kiran, Morgan‐Billingslea, Jan, Jones, Kia, Waller, Edmund K, Jones, Dean, Uppal, Karan, Dunbar, Sandra B, Pemu, Priscilla, Vaccarino, Viola, Searles, Charles D, Baltrus, Peter, Lewis, Tené T, Quyyumi, Arshed A, and Taylor, Herman

Subjects
Clinical Research, Cardiovascular, Prevention, Behavioral and Social Science, Heart Disease, 2.4 Surveillance and distribution, Aetiology, Good Health and Well Being, Adult, African Americans, Aged, Cardiovascular Diseases, Female, Georgia, Health Behavior, Health Knowledge, Attitudes, Practice, Health Status Disparities, Heart Disease Risk Factors, Humans, Life Style, Male, Middle Aged, Prevalence, Preventive Health Services, Prognosis, Race Factors, Research Design, Risk Assessment, Social Determinants of Health, Socioeconomic Factors, Urban Health, cardiovascular disease prevention, disparities, race and ethnicity, risk factor, Black or African American, Cardiorespiratory Medicine and Haematology
Abstract

Background Cardiovascular disease incidence, prevalence, morbidity, and mortality have declined in the past several decades; however, disparities persist among subsets of the population. Notably, blacks have not experienced the same improvements on the whole as whites. Furthermore, frequent reports of relatively poorer health statistics among the black population have led to a broad assumption that black race reliably predicts relatively poorer health outcomes. However, substantial intraethnic and intraracial heterogeneity exists; moreover, individuals with similar risk factors and environmental exposures are often known to experience vastly different cardiovascular health outcomes. Thus, some individuals have good outcomes even in the presence of cardiovascular risk factors, a concept known as resilience. Methods and Results The MECA (Morehouse-Emory Center for Health Equity) Study was designed to investigate the multilevel exposures that contribute to "resilience" in the face of risk for poor cardiovascular health among blacks in the greater Atlanta, GA, metropolitan area. We used census tract data to determine "at-risk" and "resilient" neighborhoods with high or low prevalence of cardiovascular morbidity and mortality, based on cardiovascular death, hospitalization, and emergency department visits for blacks. More than 1400 individuals from these census tracts assented to demographic, health, and psychosocial questionnaires administered through telephone surveys. Afterwards, ≈500 individuals were recruited to enroll in a clinical study, where risk biomarkers, such as oxidative stress, and inflammatory markers, endothelial progenitor cells, metabolomic and microRNA profiles, and subclinical vascular dysfunction were measured. In addition, comprehensive behavioral questionnaires were collected and ideal cardiovascular health metrics were assessed using the American Heart Association's Life Simple 7 measure. Last, 150 individuals with low Life Simple 7 were recruited and randomized to a behavioral mobile health (eHealth) plus health coach or eHealth only intervention and followed up for improvement. Conclusions The MECA Study is investigating socioenvironmental and individual behavioral measures that promote resilience to cardiovascular disease in blacks by assessing biological, functional, and molecular mechanisms. REGISTRATION URL: https://www.clini​caltr​ials.gov. Unique identifier: NCT03308812.

Published
2020

17. Individual Characteristics of Resilience are Associated With Lower‐Than‐Expected Neighborhood Rates of Cardiovascular Disease in Blacks: Results From the Morehouse‐Emory Cardiovascular (MECA) Center for Health Equity Study

Author

Topel, Matthew L, Kim, Jeong Hwan, Mujahid, Mahasin S, Ko, Yi‐An, Vaccarino, Viola, Mubasher, Mohamed, Liu, Chang, Dunbar, Sandra, Sims, Mario, Taylor, Herman A, Quyyumi, Arshed A, Baltrus, Peter, and Lewis, Tené T

Subjects
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Clinical Research, Prevention, Mental Health, Heart Disease, Behavioral and Social Science, Cardiovascular, Basic Behavioral and Social Science, Violence Research, 2.3 Psychological, social and economic factors, Aetiology, Good Health and Well Being, Adult, Black or African American, Attitude to Health, Cardiovascular Diseases, Cross-Sectional Studies, Female, Georgia, Health Equity, Humans, Male, Residence Characteristics, Resilience, Psychological, Risk Assessment, cardiovascular disease, community, health disparities, neighborhood, psychology and behavior, psychosocial factors, social determinants of health, Cardiorespiratory Medicine and Haematology, Cardiovascular medicine and haematology
Abstract

Background Factors promoting cardiovascular health in the face of high risk, ie, resilience, are unknown and may identify novel areas of intervention for reducing racial health disparities. We examined neighborhood perceptions and psychological attributes of blacks living in high and low cardiovascular-risk neighborhoods, as potential characteristics of resilience promoting cardiovascular health. Methods and Results We identified 1433 blacks residing in census tracts of Atlanta, GA , with higher-than-expected ("high" risk) or lower-than-expected ("low" risk) rates of cardiovascular mortality, hospitalizations, and emergency department visits during 2010-2014. Domains of psychosocial well-being and neighborhood quality were assessed via telephone survey between August 2016 and October 2016. Using multilevel logistic regression, odds of reporting better resilient characteristics were compared between individuals living in low- versus high-risk neighborhoods. Those from low-risk (versus high-risk) neighborhoods reported better neighborhood aesthetic quality (odds ratio [ OR ], 1.84), healthy food access ( OR , 1.69), and absence of violence ( OR , 0.67). Individuals from low-risk neighborhoods reported greater optimism ( OR , 1.38), purpose in life ( OR , 1.42), and fewer depressive symptoms ( OR , 0.69). After full adjustment, these associations remained significant for neighborhood factors (aesthetic quality, healthy food access, violence) and psychosocial well-being (purpose in life). We found no evidence of differences in self-reported cardiovascular risk factors or disease history between low- versus high-risk neighborhoods. Conclusions Positive neighborhood environments and psychological characteristics are associated with low cardiovascular-risk neighborhoods, despite similar prevalence of cardiovascular risk factors, in the census tracts studied. These factors may confer cardiovascular resilience among blacks.

Published
2019

18. Identification of Resilient and At-Risk Neighborhoods for Cardiovascular Disease Among Black Residents: the Morehouse-Emory Cardiovascular (MECA) Center for Health Equity Study

Author

Kim, Jeong Hwan, Lewis, Tené T, Topel, Matthew L, Mubasher, Mohamed, Li, Chaohua, Vaccarino, Viola, Mujahid, Mahasin S, Sims, Mario, Quyyumi, Arshed A, Taylor, Herman A, and Baltrus, Peter T

Subjects
Epidemiology, Public Health, Health Sciences, Behavioral and Social Science, Basic Behavioral and Social Science, Cardiovascular, Prevention, Heart Disease, Aging, Good Health and Well Being, Adult, Black or African American, Aged, Aged, 80 and over, Cardiovascular Diseases, Cities, Female, Forecasting, Georgia, Health Equity, Humans, Logistic Models, Male, Middle Aged, Mortality, Prevalence, Risk Assessment, Social Class, Public Health and Health Services, Health services and systems, Public health
Abstract

IntroductionDespite the growing interest in place as a determinant of health, areas that promote rather than reduce cardiovascular disease (CVD) in blacks are understudied. We performed an ecologic analysis to identify areas with high levels of CVD resilience and risk among blacks from a large southern, US metropolitan area.MethodsWe obtained census tract-level rates of cardiovascular deaths, emergency department (ED) visits, and hospitalizations for black adults aged 35 to 64 from 2010 through 2014 for the Atlanta, Georgia, metropolitan area. Census tracts with substantially lower rates of cardiovascular events on the basis of neighborhood socioeconomic status were identified as resilient and those with higher rates were identified as at risk. Logistic regression was used to estimate the odds ratios (OR) and 95% confidence intervals (CIs) of being classified as an at-risk versus resilient tract for differences in census-derived measures.ResultsWe identified 106 resilient and 121 at-risk census tracts, which differed in the rates per 5,000 person years of cardiovascular outcomes (mortality, 8.13 vs 13.81; ED visits, 32.25 vs 146.3; hospitalizations, 26.69 vs 130.0), despite similarities in their median black income ($46,123 vs $45,306). Tracts with a higher percentage of residents aged 65 or older (odds ratio [OR], 2.29; 95% CI, 1.41-3.85 per 5% increment) and those with incomes less than 200% of the federal poverty level (OR, 1.19; 95% CI, 1.02-1.39 per 5% increment) and greater Gini index (OR, 1.56; 95% CI, 1.19- 2.07 per 0.05 increment) were more likely to be classified as at risk than resilient neighborhoods.DiscussionDespite matching on median income level, at-risk neighborhoods for CVD among black populations were associated with a higher prevalence of socioeconomic indicators of inequality than resilient neighborhoods.

Published
2019

19. Lessons Learned from the Jackson Heart Study

Author

Fox, Ervin R., Musani, Solomon K., Henderson, Frances C., Correa, Adolfo, Taylor, Herman A., Jr., Toth, Peter P., Series Editor, Ferdinand, Keith C., editor, Taylor, Jr., Herman A., editor, and Rodriguez, Carlos J., editor

Published
2021
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20. Socioeconomic Status and Cardiovascular Outcomes

Author

Schultz, William M, Kelli, Heval M, Lisko, John C, Varghese, Tina, Shen, Jia, Sandesara, Pratik, Quyyumi, Arshed A, Taylor, Herman A, Gulati, Martha, Harold, John G, Mieres, Jennifer H, Ferdinand, Keith C, Mensah, George A, and Sperling, Laurence S

Subjects
Health Services and Systems, Public Health, Health Sciences, Cardiovascular, Prevention, Clinical Research, Behavioral and Social Science, Heart Disease, Good Health and Well Being, Cardiovascular Diseases, Educational Status, Exercise, Health Behavior, Humans, Income, Risk Factors, Social Class, cardiovascular diseases, epidemiology, social class, social determinants of health, risk factors, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Public Health and Health Services, Cardiovascular System & Hematology, Cardiovascular medicine and haematology, Clinical sciences, Sports science and exercise
Abstract

Socioeconomic status (SES) has a measurable and significant effect on cardiovascular health. Biological, behavioral, and psychosocial risk factors prevalent in disadvantaged individuals accentuate the link between SES and cardiovascular disease (CVD). Four measures have been consistently associated with CVD in high-income countries: income level, educational attainment, employment status, and neighborhood socioeconomic factors. In addition, disparities based on sex have been shown in several studies. Interventions targeting patients with low SES have predominantly focused on modification of traditional CVD risk factors. Promising approaches are emerging that can be implemented on an individual, community, or population basis to reduce disparities in outcomes. Structured physical activity has demonstrated effectiveness in low-SES populations, and geomapping may be used to identify targets for large-scale programs. Task shifting, the redistribution of healthcare management from physician to nonphysician providers in an effort to improve access to health care, may have a role in select areas. Integration of SES into the traditional CVD risk prediction models may allow improved management of individuals with high risk, but cultural and regional differences in SES make generalized implementation challenging. Future research is required to better understand the underlying mechanisms of CVD risk that affect individuals of low SES and to determine effective interventions for patients with high risk. We review the current state of knowledge on the impact of SES on the incidence, treatment, and outcomes of CVD in high-income societies and suggest future research directions aimed at the elimination of these adverse factors, and the integration of measures of SES into the customization of cardiovascular treatment.

Published
2018

21. Concussion burden and later‐life cardiovascular risk factors in former professional American‐style football players

Author

Tan, Can Ozan, primary, Grashow, Rachel, additional, Thorpe, Roland, additional, Miller, Karen K., additional, Nathan, David M., additional, Izzy, Saef, additional, Radmanesh, Farid, additional, Kim, Jonathan H., additional, Weisskopf, Marc G., additional, Taylor, Herman A., additional, Zafonte, Ross D., additional, and Baggish, Aaron L., additional

Published
2024
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22. Age-Specific All-Cause Mortality Disparities by Race and Ethnicity During the COVID-19 Pandemic

Author

Faust, Jeremy Samuel, primary, Renton, Benjamin, additional, Bongiovanni, Tasce, additional, Chen, Alexander Junxiang, additional, Sheares, Karen Dorsey, additional, Du, Chengan, additional, Essien, Utibe R., additional, Fuentes-Afflick, Elena, additional, Haywood, Trent, additional, Khera, Rohan, additional, King, Terris, additional, Li, Shu-Xia, additional, Lin, Zhenqiu, additional, Lu, Yuan, additional, Marshall, Andrew D.A., additional, Ndumele, Chima D., additional, Opara, Ijeoma, additional, Loarte-Rodriguez, Tina, additional, Sawano, Mitsuaki, additional, Taparra, Kekoa, additional, Taylor, Herman A., additional, Watson, Karol E., additional, Yancy, Clyde W., additional, and Krumholz, Harlan M., additional

Published
2024
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23. De novo variants in DENND5B cause a neurodevelopmental disorder

Author

Scala, Marcello, primary, Tomati, Valeria, additional, Ferla, Matteo, additional, Lena, Mariateresa, additional, Cohen, Julie S., additional, Fatemi, Ali, additional, Brokamp, Elly, additional, Bican, Anna, additional, Phillips, John A., additional, Koziura, Mary E., additional, Nicouleau, Michael, additional, Rio, Marlene, additional, Siquier, Karine, additional, Boddaert, Nathalie, additional, Musante, Ilaria, additional, Tamburro, Serena, additional, Baldassari, Simona, additional, Iacomino, Michele, additional, Scudieri, Paolo, additional, Rosenfeld, Jill A., additional, Bellus, Gary, additional, Reed, Sara, additional, Al Saif, Hind, additional, Russo, Rossana Sanchez, additional, Walsh, Matthew B., additional, Cantagrel, Vincent, additional, Crunk, Amy, additional, Gustincich, Stefano, additional, Ruggiero, Sarah M., additional, Fitzgerald, Mark P., additional, Helbig, Ingo, additional, Striano, Pasquale, additional, Severino, Mariasavina, additional, Salpietro, Vincenzo, additional, Pedemonte, Nicoletta, additional, Zara, Federico, additional, Acosta, Maria T., additional, Adams, David R., additional, Alvarez, Raquel L., additional, Alvey, Justin, additional, Allworth, Aimee, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Afzali, Ben, additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Bamshad, Michael, additional, Barbouth, Deborah, additional, Bayrak-Toydemir, Pinar, additional, Beck, Anita, additional, Beggs, Alan H., additional, Behrens, Edward, additional, Bejerano, Gill, additional, Bellen, Hugo J., additional, Bennett, Jimmy, additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bivona, Stephanie, additional, Blue, Elizabeth, additional, Bohnsack, John, additional, Bonner, Devon, additional, Botto, Lorenzo, additional, Briere, Lauren C., additional, Brown, Gabrielle, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Byers, Peter, additional, Byrd, William E., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Cassini, Thomas, additional, Chang, Ta Chen Peter, additional, Chanprasert, Sirisak, additional, Chao, HsiaoTuan, additional, Chinn, Ivan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Coggins, Matthew, additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Cope, Heidi, additional, Corona, Rosario, additional, Craigen, William J., additional, Crouse, Andrew B., additional, Cunningham, Michael, additional, D’Souza, Precilla, additional, Dai, Hongzheng, additional, Dasari, Surendra, additional, Davis, Joie, additional, Dayal, Jyoti G., additional, Delgado, Margaret, additional, Dell'Angelica, Esteban C., additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Dorrani, Naghmeh, additional, Doss, Argenia L., additional, Douine, Emilie D., additional, Earl, Dawn, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Falk, Marni, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Fu, Jiayu, additional, Gahl, William A., additional, Glass, Ian, additional, Goddard, Page C., additional, Godfrey, Rena A., additional, Grajewski, Alana, additional, Gropman, Andrea, additional, Halley, Meghan C., additional, Hamid, Rizwan, additional, Hanchard, Neal, additional, Hassey, Kelly, additional, Hayes, Nichole, additional, High, Frances, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Horike-Pyne, Martha, additional, Huang, Alden, additional, Huang, Yan, additional, Hutchison, Sarah, additional, Introne, Wendy, additional, Isasi, Rosario, additional, Izumi, Kosuke, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Jean-Marie, Orpa, additional, Jobanputra, Vaidehi, additional, Kaitryn, Emerald, additional, Ketkar, Shamika, additional, Kiley, Dana, additional, Kilich, Gonench, additional, Kobren, Shilpa N., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Korrick, Susan, additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Kravets, Elijah, additional, Lalani, Seema R., additional, Lam, Byron, additional, Lam, Christina, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Levitt, Roy, additional, Lewis, Richard A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Maghiro, AudreyStephannie, additional, Mahoney, Rachel, additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCray, Alexa T., additional, McGee, Elisabeth, additional, Might, Matthew, additional, Miller, Danny, additional, Mirzaa, Ghayda, additional, Morava, Eva, additional, Moretti, Paolo, additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Nakano-Okuno, Mariko, additional, Nelson, Stanley F., additional, Nieves-Rodriguez, Shirley, additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J. Carl, additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Petcharet, Leoyklang, additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Swerdzewski, Barbara N. Pusey, additional, Quinlan, Aaron, additional, Rao, Deepak A., additional, Raper, Anna, additional, Raskind, Wendy, additional, Renteria, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenthal, Elizabeth, additional, Rossignol, Francis, additional, Ruzhnikov, Maura, additional, Sabaii, Marla, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Saporta, Mario, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Schoch, Kelly, additional, Scott, Daryl A., additional, Seto, Elaine, additional, Sharma, Prashant, additional, Shashi, Vandana, additional, Shelkowitz, Emily, additional, Sheppeard, Sam, additional, Shin, Jimann, additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Edward C., additional, Smith, Kevin S., additional, Solnica-Krezel, Lilianna, additional, Solomon, Ben, additional, Spillmann, Rebecca C., additional, Stergachis, Andrew, additional, Stoler, Joan M., additional, Sullivan, Kathleen, additional, Sullivan, Jennifer A., additional, Sutton, Shirley, additional, Sweetser, David A., additional, Sybert, Virginia, additional, Tabor, Holly K., additional, Tan, Queenie K.-G., additional, Tan, Amelia L.M., additional, Tarakad, Arjun, additional, Taylor, Herman, additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Ungar, Rachel A., additional, Urv, Tiina K., additional, Vanderver, Adeline, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Walker, Melissa, additional, Walley, Nicole M., additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Wegner, Daniel, additional, Weisz Hubshman, Monika, additional, Wener, Mark, additional, Wenger, Tara, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Whitlock, Jordan, additional, Wolfe, Lynne A., additional, Worley, Kim, additional, Yamamoto, Shinya, additional, Zhang, Zhe, additional, and Zuchner, Stephan, additional

Published
2024
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25. Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms

Author

Rusu, Victor, Hoch, Eitan, Mercader, Josep M, Tenen, Danielle E, Gymrek, Melissa, Hartigan, Christina R, DeRan, Michael, von Grotthuss, Marcin, Fontanillas, Pierre, Spooner, Alexandra, Guzman, Gaelen, Deik, Amy A, Pierce, Kerry A, Dennis, Courtney, Clish, Clary B, Carr, Steven A, Wagner, Bridget K, Schenone, Monica, Ng, Maggie CY, Chen, Brian H, Consortium, MEDIA, Shriner, Daniel, Li, Jiang, Chen, Wei-Min, Guo, Xiuqing, Liu, Jiankang, Bielinski, Suzette J, Yanek, Lisa R, Nalls, Michael A, Comeau, Mary E, Rasmussen-Torvik, Laura J, Jensen, Richard A, Evans, Daniel S, Sun, Yan V, An, Ping, Patel, Sanjay R, Lu, Yingchang, Long, Jirong, Armstrong, Loren L, Wagenknecht, Lynne, Yang, Lingyao, Snively, Beverly M, Palmer, Nicholette D, Mudgal, Poorva, Langefeld, Carl D, Keene, Keith L, Freedman, Barry I, Mychaleckyj, Josyf C, Nayak, Uma, Raffel, Leslie J, Goodarzi, Mark O, Chen, Y-D Ida, Taylor, Herman A, Correa, Adolfo, Sims, Mario, Couper, David, Pankow, James S, Boerwinkle, Eric, Adeyemo, Adebowale, Doumatey, Ayo, Chen, Guanjie, Mathias, Rasika A, Vaidya, Dhananjay, Singleton, Andrew B, Zonderman, Alan B, Igo, Robert P, Sedor, John R, Consortium, the FIND, Kabagambe, Edmond K, Siscovick, David S, McKnight, Barbara, Rice, Kenneth, Liu, Yongmei, Hsueh, Wen-Chi, Zhao, Wei, Bielak, Lawrence F, Kraja, Aldi, Province, Michael A, Bottinger, Erwin P, Gottesman, Omri, Cai, Qiuyin, Zheng, Wei, Blot, William J, Lowe, William L, Pacheco, Jennifer A, Crawford, Dana C, Consortium, the eMERGE, Consortium, the DIAGRAM, Grundberg, Elin, Consortium, the MuTHER, Rich, Stephen S, Hayes, M Geoffrey, Shu, Xiao-Ou, Loos, Ruth JF, Borecki, Ingrid B, Peyser, Patricia A, Cummings, Steven R, and Psaty, Bruce M

Subjects
Biological Sciences, Genetics, Clinical Research, Diabetes, Digestive Diseases, Liver Disease, Aetiology, 2.1 Biological and endogenous factors, Metabolic and endocrine, Basigin, Cell Membrane, Chromosomes, Human, Pair 17, Diabetes Mellitus, Type 2, Gene Knockdown Techniques, Haplotypes, Hepatocytes, Heterozygote, Histone Code, Humans, Liver, Models, Molecular, Monocarboxylic Acid Transporters, MEDIA Consortium, SIGMA T2D Consortium, MCT11, SLC16A11, disease mechanism, fatty acid metabolism, genetics, lipid metabolism, monocarboxylates, precision medicine, solute carrier, type 2 diabetes, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences
Abstract

Type 2 diabetes (T2D) affects Latinos at twice the rate seen in populations of European descent. We recently identified a risk haplotype spanning SLC16A11 that explains ∼20% of the increased T2D prevalence in Mexico. Here, through genetic fine-mapping, we define a set of tightly linked variants likely to contain the causal allele(s). We show that variants on the T2D-associated haplotype have two distinct effects: (1) decreasing SLC16A11 expression in liver and (2) disrupting a key interaction with basigin, thereby reducing cell-surface localization. Both independent mechanisms reduce SLC16A11 function and suggest SLC16A11 is the causal gene at this locus. To gain insight into how SLC16A11 disruption impacts T2D risk, we demonstrate that SLC16A11 is a proton-coupled monocarboxylate transporter and that genetic perturbation of SLC16A11 induces changes in fatty acid and lipid metabolism that are associated with increased T2D risk. Our findings suggest that increasing SLC16A11 function could be therapeutically beneficial for T2D. VIDEO ABSTRACT.

Published
2017

26. Perceived Chronic Traumatic Encephalopathy and Suicidality in Former Professional Football Players

Author

Grashow, Rachel, Terry, Douglas P., Iverson, Grant L., DiGregorio, Heather, Dairi, Inana, Brown, Cheyenne, Atkeson, Paula S., Whittington, Alicia J., Reese, LeRoy, Kim, Jonathan H., Konstantinides, Niki, Taylor, Herman A., Speizer, Frank E., Daneshvar, Daniel H., Zafonte, Ross D., Weisskopf, Marc G., and Baggish, Aaron L.

Abstract

IMPORTANCE: Participation in American-style football (ASF) has been linked to chronic traumatic encephalopathy neuropathological change (CTE-NC), a specific neuropathologic finding that can only be established at autopsy. Despite being a postmortem diagnosis, living former ASF players may perceive themselves to have CTE-NC. At present, the proportion and clinical correlates of living former professional ASF athletes with perceived CTE who report suicidality are unknown. OBJECTIVE: To determine the proportion, clinical correlates, and suicidality of living former professional ASF players with perceived CTE. DESIGN, SETTING, AND PARTICIPANTS: A cross-sectional study within the Football Players Health Study at Harvard University was conducted from 2017 to 2020. Using electronic and paper surveys, this population-based study included former ASF players who contracted with a professional league from 1960 to 2020 and volunteered to fill out a baseline survey. Data for this study were analyzed from June 2023 through March 2024. EXPOSURES: Data included demographics, football-related exposures (eg, position, career duration), and current health problems (anxiety, attention-deficit/hyperactivity disorder, depression, diabetes, emotional and behavioral dyscontrol symptoms, headache, hyperlipidemia, hypertension, low testosterone level, pain, sleep apnea, and subjective cognitive function). MAIN OUTCOMES AND MEASURES: The proportion of participants reporting perceived CTE. Univariable and multivariable models were used to determine clinical and suicidality correlates of perceived CTE. RESULTS: Among 4180 former professional ASF players who volunteered to fill out a baseline survey, 1980 (47.4%) provided follow-up data (mean [SD] age, 57.7 [13.9] years). A total of 681 participants (34.4%) reported perceived CTE. Subjective cognitive difficulties, low testosterone level, headache, concussion signs and symptoms accrued during playing years, depressive/emotional and behavioral dyscontrol symptoms, pain, and younger age were significantly associated with perceived CTE. Suicidality was reported by 171 of 681 participants with perceived CTE (25.4%) and 64 of 1299 without perceived CTE (5.0%). After adjusting for established suicidality predictors (eg, depression), men with perceived CTE remained twice as likely to report suicidality (odds ratio, 2.06; 95% CI, 1.36-3.12; P < .001). CONCLUSIONS AND RELEVANCE: This study found that approximately one-third of living former professional ASF players reported perceived CTE. Men with perceived CTE had an increased prevalence of suicidality and were more likely to have health problems associated with cognitive impairment compared with men without perceived CTE. Perceived CTE represents a novel risk factor for suicidality and, if present, should motivate the diagnostic assessment and treatment of medical and behavioral conditions that may be misattributed to CTE-NC.

Published
2024
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30. Metabolomic signatures of ideal cardiovascular health in black adults

Author

Islam, Shabatun J., primary, Liu, Chang, additional, Mohandas, Appesh N., additional, Rooney, Kimberly, additional, Nayak, Aditi, additional, Mehta, Anurag, additional, Ko, Yi-An, additional, Kim, Jeong Hwan, additional, Sun, Yan V., additional, Dunbar, Sandra B., additional, Lewis, Tené T., additional, Taylor, Herman A., additional, Uppal, Karan, additional, Jones, Dean P., additional, Quyyumi, Arshed A., additional, and Searles, Charles D., additional

Published
2024
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31. Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans

Author

Evans, Daniel S, Avery, Christy L, Nalls, Mike A, Li, Guo, Barnard, John, Smith, Erin N, Tanaka, Toshiko, Butler, Anne M, Buxbaum, Sarah G, Alonso, Alvaro, Arking, Dan E, Berenson, Gerald S, Bis, Joshua C, Buyske, Steven, Carty, Cara L, Chen, Wei, Chung, Mina K, Cummings, Steven R, Deo, Rajat, Eaton, Charles B, Fox, Ervin R, Heckbert, Susan R, Heiss, Gerardo, Hindorff, Lucia A, Hsueh, Wen-Chi, Isaacs, Aaron, Jamshidi, Yalda, Kerr, Kathleen F, Liu, Felix, Liu, Yongmei, Lohman, Kurt K, Magnani, Jared W, Maher, Joseph F, Mehra, Reena, Meng, Yan A, Musani, Solomon K, Newton-Cheh, Christopher, North, Kari E, Psaty, Bruce M, Redline, Susan, Rotter, Jerome I, Schnabel, Renate B, Schork, Nicholas J, Shohet, Ralph V, Singleton, Andrew B, Smith, Jonathan D, Soliman, Elsayed Z, Srinivasan, Sathanur R, Taylor, Herman A, Van Wagoner, David R, Wilson, James G, Young, Taylor, Zhang, Zhu-Ming, Zonderman, Alan B, Evans, Michele K, Ferrucci, Luigi, Murray, Sarah S, Tranah, Gregory J, Whitsel, Eric A, Reiner, Alex P, Consortium, CHARGE QRS, and Sotoodehnia, Nona

Subjects
Biological Sciences, Genetics, Human Genome, Heart Disease, Cardiovascular, Black or African American, Alleles, Cardiovascular Diseases, Electrocardiography, Female, Genome-Wide Association Study, Genotype, Heart Ventricles, Humans, Male, Myocardium, NAV1.5 Voltage-Gated Sodium Channel, Polymorphism, Single Nucleotide, White People, CHARGE QRS Consortium, Medical and Health Sciences, Genetics & Heredity
Abstract

The electrocardiographic QRS duration, a measure of ventricular depolarization and conduction, is associated with cardiovascular mortality. While single nucleotide polymorphisms (SNPs) associated with QRS duration have been identified at 22 loci in populations of European descent, the genetic architecture of QRS duration in non-European populations is largely unknown. We therefore performed a genome-wide association study (GWAS) meta-analysis of QRS duration in 13,031 African Americans from ten cohorts and a transethnic GWAS meta-analysis with additional results from populations of European descent. In the African American GWAS, a single genome-wide significant SNP association was identified (rs3922844, P = 4 × 10-14) in intron 16 of SCN5A, a voltage-gated cardiac sodium channel gene. The QRS-prolonging rs3922844 C allele was also associated with decreased SCN5A RNA expression in human atrial tissue (P = 1.1 × 10-4). High density genotyping revealed that the SCN5A association region in African Americans was confined to intron 16. Transethnic GWAS meta-analysis identified novel SNP associations on chromosome 18 in MYL12A (rs1662342, P = 4.9 × 10-8) and chromosome 1 near CD1E and SPTA1 (rs7547997, P = 7.9 × 10-9). The 22 QRS loci previously identified in populations of European descent were enriched for significant SNP associations with QRS duration in African Americans (P = 9.9 × 10-7), and index SNP associations in or near SCN5A, SCN10A, CDKN1A, NFIA, HAND1, TBX5 and SETBP1 replicated in African Americans. In summary, rs3922844 was associated with QRS duration and SCN5A expression, two novel QRS loci were identified using transethnic meta-analysis, and a significant proportion of QRS-SNP associations discovered in populations of European descent were transferable to African Americans when adequate power was achieved.

Published
2016

32. Cardiovascular Risk Factor Targets and Cardiovascular Disease Event Risk in Diabetes: A Pooling Project of the Atherosclerosis Risk in Communities Study, Multi-Ethnic Study of Atherosclerosis, and Jackson Heart Study

Author

Wong, Nathan D, Zhao, Yanglu, Patel, Rohini, Patao, Christopher, Malik, Shaista, Bertoni, Alain G, Correa, Adolfo, Folsom, Aaron R, Kachroo, Sumesh, Mukherjee, Jayanti, Taylor, Herman, and Selvin, Elizabeth

Subjects
Prevention, Heart Disease - Coronary Heart Disease, Aging, Cardiovascular, Clinical Research, Atherosclerosis, Heart Disease, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Good Health and Well Being, Adult, Aged, Aged, 80 and over, Blood Pressure, Cardiovascular Diseases, Cholesterol, HDL, Cholesterol, LDL, Cohort Studies, Diabetes Mellitus, Type 2, Ethnicity, Female, Follow-Up Studies, Glycated Hemoglobin, Humans, Incidence, Male, Middle Aged, Proportional Hazards Models, Risk Factors, United States
Abstract

ObjectiveControlling cardiovascular disease (CVD) risk factors in diabetes mellitus (DM) reduces the number of CVD events, but the effects of multifactorial risk factor control are not well quantified. We examined whether being at targets for blood pressure (BP), LDL cholesterol (LDL-C), and glycated hemoglobin (HbA1c) together are associated with lower risks for CVD events in U.S. adults with DM.Research design and methodsWe studied 2,018 adults, 28-86 years of age with DM but without known CVD, from the Atherosclerosis Risk in Communities (ARIC) study, Multi-Ethnic Study of Atherosclerosis (MESA), and Jackson Heart Study (JHS). Cox regression examined coronary heart disease (CHD) and CVD events over a mean 11-year follow-up in those individuals at BP, LDL-C, and HbA1c target levels, and by the number of controlled risk factors.ResultsOf 2,018 DM subjects (43% male, 55% African American), 41.8%, 32.1%, and 41.9% were at target levels for BP, LDL-C, and HbA1c, respectively; 41.1%, 26.5%, and 7.2% were at target levels for any one, two, or all three factors, respectively. Being at BP, LDL-C, or HbA1c target levels related to 17%, 33%, and 37% lower CVD risks and 17%, 41%, and 36% lower CHD risks, respectively (P < 0.05 to P < 0.0001, except for BP in CHD risk); those subjects with one, two, or all three risk factors at target levels (vs. none) had incrementally lower adjusted risks of CVD events of 36%, 52%, and 62%, respectively, and incrementally lower adjusted risks of CHD events of 41%, 56%, and 60%, respectively (P < 0.001 to P < 0.0001). Propensity score adjustment showed similar findings.ConclusionsOptimal levels of BP, LDL-C, and HbA1c occurring together in individuals with DM are uncommon, but are associated with substantially lower risk of CHD and CVD.

Published
2016

34. African Ancestry Analysis and Admixture Genetic Mapping for Proliferative Diabetic Retinopathy in African AmericansProliferative Diabetic Retinopathy in African Americans

Author

Tandon, Arti, Chen, Ching J, Penman, Alan, Hancock, Heather, James, Maurice, Husain, Deeba, Andreoli, Christopher, Li, Xiaohui, Kuo, Jane Z, Idowu, Omolola, Riche, Daniel, Papavasilieou, Evangelia, Brauner, Stacey, Smith, Sataria O, Hoadley, Suzanne, Richardson, Cole, Kieser, Troy, Vazquez, Vanessa, Chi, Cheryl, Fernandez, Marlene, Harden, Maegan, Cotch, Mary Frances, Siscovick, David, Taylor, Herman A, Wilson, James G, Reich, David, Wong, Tien Y, Klein, Ronald, Klein, Barbara EK, Rotter, Jerome I, Patterson, Nick, and Sobrin, Lucia

Subjects
Biomedical and Clinical Sciences, Ophthalmology and Optometry, Human Genome, Diabetes, Genetics, Prevention, Eye Disease and Disorders of Vision, Metabolic and endocrine, Adult, Black or African American, Aged, Blood Pressure, Case-Control Studies, Chromosome Mapping, Diabetes Mellitus, Type 2, Diabetic Retinopathy, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Glycated Hemoglobin, Humans, Male, Middle Aged, Odds Ratio, Regression Analysis, Risk Factors, genetics, diabetic retinopathy, proliferative diabetic retinopathy, African Americans, admixture, ancestry, Biological Sciences, Medical and Health Sciences, Ophthalmology & Optometry, Ophthalmology and optometry
Abstract

PurposeTo examine the relationship between proportion of African ancestry (PAA) and proliferative diabetic retinopathy (PDR) and to identify genetic loci associated with PDR using admixture mapping in African Americans with type 2 diabetes (T2D).MethodsBetween 1993 and 2013, 1440 participants enrolled in four different studies had fundus photographs graded using the Early Treatment Diabetic Retinopathy Study scale. Cases (n = 305) had PDR while controls (n = 1135) had nonproliferative diabetic retinopathy (DR) or no DR. Covariates included diabetes duration, hemoglobin A1C, systolic blood pressure, income, and education. Genotyping was performed on the Affymetrix platform. The association between PAA and PDR was evaluated using logistic regression. Genome-wide admixture scanning was performed using ANCESTRYMAP software.ResultsIn the univariate analysis, PDR was associated with increased PAA (odds ratio [OR] = 1.36, 95% confidence interval [CI] = 1.16-1.59, P = 0.0002). In multivariate regression adjusting for traditional DR risk factors, income and education, the association between PAA and PDR was attenuated and no longer significant (OR = 1.21, 95% CI = 0.59-2.47, P = 0.61). For the admixture analyses, the maximum genome-wide score was 1.44 on chromosome 1.ConclusionsIn this largest study of PDR in African Americans with T2D to date, an association between PAA and PDR is not present after adjustment for clinical, demographic, and socioeconomic factors. No genome-wide significant locus (defined as having a locus-genome statistic > 5) was identified with admixture analysis. Further analyses with even larger sample sizes are needed to definitively assess if any admixture signal for DR is present.

Published
2015

35. Drug-Gene Interactions of Antihypertensive Medications and Risk of Incident Cardiovascular Disease: A Pharmacogenomics Study from the CHARGE Consortium.

Author

Bis, Joshua C, Sitlani, Colleen, Irvin, Ryan, Avery, Christy L, Smith, Albert Vernon, Sun, Fangui, Evans, Daniel S, Musani, Solomon K, Li, Xiaohui, Trompet, Stella, Krijthe, Bouwe P, Harris, Tamara B, Quibrera, P Miguel, Brody, Jennifer A, Demissie, Serkalem, Davis, Barry R, Wiggins, Kerri L, Tranah, Gregory J, Lange, Leslie A, Sotoodehnia, Nona, Stott, David J, Franco, Oscar H, Launer, Lenore J, Stürmer, Til, Taylor, Kent D, Cupples, L Adrienne, Eckfeldt, John H, Smith, Nicholas L, Liu, Yongmei, Wilson, James G, Heckbert, Susan R, Buckley, Brendan M, Ikram, M Arfan, Boerwinkle, Eric, Chen, Yii-Der Ida, de Craen, Anton JM, Uitterlinden, Andre G, Rotter, Jerome I, Ford, Ian, Hofman, Albert, Sattar, Naveed, Slagboom, P Eline, Westendorp, Rudi GJ, Gudnason, Vilmundur, Vasan, Ramachandran S, Lumley, Thomas, Cummings, Steven R, Taylor, Herman A, Post, Wendy, Jukema, J Wouter, Stricker, Bruno H, Whitsel, Eric A, Psaty, Bruce M, and Arnett, Donna

Subjects
Humans, Cardiovascular Diseases, Hypertension, Antihypertensive Agents, Treatment Outcome, Incidence, Polymorphism, Single Nucleotide, Aged, Middle Aged, African Americans, European Continental Ancestry Group, Female, Male, Genome-Wide Association Study, Polymorphism, Single Nucleotide, General Science & Technology
Abstract

BackgroundHypertension is a major risk factor for a spectrum of cardiovascular diseases (CVD), including myocardial infarction, sudden death, and stroke. In the US, over 65 million people have high blood pressure and a large proportion of these individuals are prescribed antihypertensive medications. Although large long-term clinical trials conducted in the last several decades have identified a number of effective antihypertensive treatments that reduce the risk of future clinical complications, responses to therapy and protection from cardiovascular events vary among individuals.MethodsUsing a genome-wide association study among 21,267 participants with pharmaceutically treated hypertension, we explored the hypothesis that genetic variants might influence or modify the effectiveness of common antihypertensive therapies on the risk of major cardiovascular outcomes. The classes of drug treatments included angiotensin-converting enzyme inhibitors, beta-blockers, calcium channel blockers, and diuretics. In the setting of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium, each study performed array-based genome-wide genotyping, imputed to HapMap Phase II reference panels, and used additive genetic models in proportional hazards or logistic regression models to evaluate drug-gene interactions for each of four therapeutic drug classes. We used meta-analysis to combine study-specific interaction estimates for approximately 2 million single nucleotide polymorphisms (SNPs) in a discovery analysis among 15,375 European Ancestry participants (3,527 CVD cases) with targeted follow-up in a case-only study of 1,751 European Ancestry GenHAT participants as well as among 4,141 African-Americans (1,267 CVD cases).ResultsAlthough drug-SNP interactions were biologically plausible, exposures and outcomes were well measured, and power was sufficient to detect modest interactions, we did not identify any statistically significant interactions from the four antihypertensive therapy meta-analyses (Pinteraction > 5.0×10-8). Similarly, findings were null for meta-analyses restricted to 66 SNPs with significant main effects on coronary artery disease or blood pressure from large published genome-wide association studies (Pinteraction ≥ 0.01). Our results suggest that there are no major pharmacogenetic influences of common SNPs on the relationship between blood pressure medications and the risk of incident CVD.

Published
2015

42. Neighborhood characteristics and ideal cardiovascular health among Black adults: results from the Morehouse-Emory Cardiovascular (MECA) Center for Health Equity

Author

Islam, Shabatun J., Kim, Jeong Hwan, Baltrus, Peter, Topel, Matthew L., Liu, Chang, Ko, Yi-An, Mujahid, Mahasin S., Vaccarino, Viola, Sims, Mario, Mubasher, Mohamed, Khan, Ahsan, Ejaz, Kiran, Searles, Charles, Dunbar, Sandra, Pemu, Priscilla, Taylor, Herman A., Quyyumi, Arshed A., and Lewis, Tené T.

Published
2022
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43. Tau Positron Emission Tomography and Neurocognitive Function Among Former Professional American-Style Football Players

Author

Dhaynaut, Maeva, primary, Grashow, Rachel, additional, Normandin, Marc D., additional, Wu, Ona, additional, Marengi, Dean, additional, Terry, Douglas P., additional, Sanchez, Justin S., additional, Weisskopf, Marc G., additional, Speizer, Frank E., additional, Taylor, Herman A., additional, Guehl, Nicolas J., additional, Seshadri, Sudha, additional, Beiser, Alexa, additional, Daneshvar, Daniel H., additional, Johnson, Keith, additional, Iverson, Grant L., additional, Zafonte, Ross, additional, Fakhri, Georges El, additional, and Baggish, Aaron L., additional

Published
2023
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46. CD36 regulates factor VIII secretion from liver endothelial cells

Author

Dehghan, Abbas, Gill, Dipender, Elliot, Paul, Pankratz, Nathan, Tang, Weihong, Wei, Peng, deVries, Paul, Brown, Michael, Bressler, Jan, Hahn, Julie, Friedman, Rachel K., Heath, Adam, Morrison, Alanna, Strachan, David, Reiner, Alex P., Conomos, Matt, Psaty, Bruce M., Brody, Jen, Bis, Joshua C., Wiggins, Kerri L., Smith, Nicholas L., Hayward, Caroline, Richmond, Anne, O’Donnell, Chris, Huffman, Jenny, Chen, Ming-Huei, Yang, Qiong, Thibord, Florian, Liu, Melissa, Johnson, Andrew, Desch, Karl, Sabater-Lleal, Maria, Temprano, Gerard, Díez, Laia, Yanek, Lisa, Peyser, Patricia, Jhun, Mina, Wild, Philipp, Reiner, Alex, Raffield, Laura, Taylor, Herman, Nicholas, Jayna, Youkhana, Kim, Peters, Annette, Mueller, Martina, Ward-Caviness, Cavin, Koenig, Wolfgang, Cox, Simon, Davies, Gail, Marioni, Riccardo, Kleber, Marcus, Tregouet, David, Morange, Pierre, Rosendaal, Frits R., van Hylckama Vlieg, Astrid, Rotter, Jerry, Yao, Jie, Guo, Xiuqing, Damrauer, Scott, Li, Ruifang, Mook, Dennis, Campbell, Harry, van der Harst, Pim, Asselbergs, Folkert, Jukema, Wouter, Trompet, Stella, Kavousi, Maryam, Leebeek, Frank, de Maat, Moniek, Felix, Stephan, Voelker, Uwe, Homuth, Georg, Mangino, Massimo, Chasman, Daniel, Reventun, Paula, Toledano-Sanz, Pablo, Alcharani, Nunzio, Viskadourou, Maria, Morrison, Alanna C., Wolberg, Alisa S., de Vries, Paul S., Osburn, William O., Arvanitis, Marios, and Lowenstein, Charles J.

Published
2024
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