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102. Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2

Author

Toyoda, Yu, primary, Cho, Sung Kweon, additional, Tasic, Velibor, additional, Pavelcová, Kateřina, additional, Bohatá, Jana, additional, Suzuki, Hiroshi, additional, David, Victor A., additional, Yoon, Jaeho, additional, Pallaiova, Anna, additional, Šaligová, Jana, additional, Nousome, Darryl, additional, Cachau, Raul, additional, Winkler, Cheryl A., additional, Takada, Tappei, additional, and Stibůrková, Blanka, additional

Published
2023
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103. Age of Onset and Disease Course in Biopsy-Proven Minimal Change Disease: An Analysis From the Cure Glomerulopathy Network

Author

Chen, Dhruti P., primary, Helmuth, Margaret E., additional, Smith, Abigail R., additional, Canetta, Pietro A., additional, Ayoub, Isabelle, additional, Mucha, Krzysztof, additional, Kallash, Mahmoud, additional, Kopp, Jeffrey, additional, Gbadegesin, Rasheed, additional, Gillespie, Brenda W., additional, Greenbaum, Larry A., additional, Parekh, Rulan S., additional, Hunley, Tray, additional, Sperati, C. John, additional, Selewski, David T., additional, Kidd, Jason, additional, Chishti, Aftab, additional, Reidy, Kimberly, additional, Mottl, Amy, additional, Gipson, Debbie S., additional, Srivastava, Tarak, additional, Twombley, Katherine E., additional, Ahn, Wooin, additional, Appel, Gerald, additional, Appelbaum, Paul, additional, Babayev, Revekka, additional, Bomback, Andrew, additional, Chan, Brenda, additional, D'Agati, Vivette Denise, additional, Dogra, Samitri, additional, Fernandez, Hilda, additional, Gharavi, Ali, additional, Hines, William, additional, Husain, Syed Ali, additional, Jain, Namrata, additional, Kiryluk, Krzysztof, additional, Lin, Fangming, additional, Marasa, Maddalena, additional, Markowitz, Glen, additional, Rasouly, Hila Milo, additional, Mohan, Sumit, additional, Mongera, Nicola, additional, Nestor, Jordan, additional, Nickolas, Thomas, additional, Radhakrishnan, Jai, additional, Rao, Maya, additional, Sanna-Cherchi, Simone, additional, Shirazian, Shayan, additional, Stokes, Michael Barry, additional, Uy, Natalie, additional, Valeri, Anthony, additional, Vena, Natalie, additional, Foroncewicz, Bartosz, additional, Moszczuk, Barbara, additional, Perkowska-Ptasińska, Agnieszka, additional, Ghiggeri Francesca Lugani, Gian Marco, additional, Ambruzs, Josephine, additional, Liapis, Helen, additional, Baracco, Rossana, additional, Jain, Amrish, additional, Ashoor, Isa, additional, Aviles, Diego, additional, Ahn, Sun-Young, additional, Devarajan, Prasad, additional, Erkan, Elif, additional, Claes, Donna, additional, Stone, Hillarey, additional, Mason, Sherene, additional, Gomez-Mendez, Liliana, additional, Wang, Chia-shi, additional, Yin, Hong (Julie), additional, Cai, Yi, additional, Jens, Goebel, additional, Steinke, Julia, additional, Weaver, Donald, additional, Lane, Jerome, additional, Cramer, Carl, additional, Pan, Cindy, additional, Paloian, Neil, additional, Sreedharan, Rajasree, additional, Bowers, Corinna, additional, Dreher, Mary, additional, Mahan, John, additional, Sharpe, Samantha, additional, Smoyer, William, additional, Al-Uzri, Amira, additional, Iragorri, Sandra, additional, Khalid, Myda, additional, Belsha, Craig, additional, Alge, Joseph, additional, Braun, Michael, additional, Gomez, A.C., additional, Wenderfer, Scott, additional, Vasylyeva, Tetyana, additional, Feig, Daniel, additional, Fuentes, Gabriel Cara, additional, Hannah, Melisha, additional, Nester, Carla, additional, Klein, Jon, additional, Katsoufis, Chryso, additional, Seeherunvong, Wacharee, additional, Rheault, Michelle, additional, Wong, Craig, additional, Mathews, Nisha, additional, Barcia, John, additional, Swiatecka-Urban, Agnes, additional, Bartosh, Sharon, additional, Dharnidharka, Vikas, additional, Gaut, Joseph, additional, Laurin, Louis-Philippe, additional, Royal, Virginie, additional, Achanti, Anand, additional, Budisavljevic, Milos, additional, Self, Sally, additional, Ghossein, Cybele, additional, Peleg, Yonatan, additional, Wadhwani, Shikha, additional, Almaani, Salem, additional, Nadasdy, Tibor, additional, Parikh, Samir, additional, Rovin, Brad, additional, Chang, Anthony, additional, Fatima, Huma, additional, Julian, Bruce, additional, Novak, Jan, additional, Renfrow, Matthew, additional, Rizk, Dana, additional, Derebail, Vimal, additional, Falk, Ronald, additional, Gibson, Keisha, additional, Glenn, Dorey, additional, Hogan, Susan, additional, Jain, Koyal, additional, Jennette, J. Charles, additional, Poulton, Caroline, additional, Saha, Manish Kanti, additional, Fogo, Agnes, additional, Sanghani, Neil, additional, Muthusamy, Selvaraj, additional, Schelling, Jeffrey, additional, Hou, Jean, additional, Lemley, Kevin, additional, Mika, Warren, additional, Russo, Pierre, additional, Denburg, Michelle, additional, Kogon, Amy, additional, Meyers, Kevin, additional, Pradhan, Madhura, additional, Matar, Raed Bou, additional, O'Toole, John, additional, Sedor, John, additional, Sethna, Christine, additional, Vento, Suzanne, additional, Atta, Mohamed, additional, Bagnasco, Serena, additional, Neu, Alicia, additional, Adler, Sharon, additional, Dai, Tiane, additional, Dukkipati, Ram, additional, Fervenza, Fernando, additional, Sethi, Sanjeev, additional, Kaskel, Frederick, additional, Brathwaite, Kaye, additional, Weisstuch, Joseph, additional, Wu, Ming, additional, Zhdanova, Olga, additional, Heymann, Jurgen, additional, Waldman, Meryl, additional, Winkler, Cheryl, additional, Tuttle, Katherine, additional, Krissberg, Jill, additional, Lafayette, Richard, additional, Fahmeedah, Kamal, additional, Talley, Elizabeth, additional, Hladunewich, Michelle, additional, Avila-Casado, Carmen, additional, Cattran, Daniel, additional, Heather, Reich, additional, Boll, Philip, additional, Drexler, Yelena, additional, Fornoni, Alessia, additional, Gipson, Patrick, additional, Hodgin, Jeffrey, additional, Oliverio, Andrea, additional, Hogan, Jon, additional, Holzman, Lawrence, additional, Palmer, Matthew, additional, Coppock, Gaia, additional, Abromovitz, Blaise, additional, Mortiz, Michael, additional, Alpers, Charles, additional, Jefferson, J. Ashley, additional, Brown, Elizabeth, additional, Sambandam, Kamal, additional, Roehm, Bethany, additional, Nast, Cynthia, additional, Barisoni, Laura, additional, Kretzler, Matthias, additional, Mariani, Laura, additional, and Guay-Woodford, Lisa M., additional

Published
2023
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108. Polymorphisms of large effect explain the majority of the host genetic contribution to variation of HIV-1 virus load

Author

McLaren, Paul J., Coulonges, Cedric, Bartha, István, Lenz, Tobias L., Deutsch, Aaron J., Bashirova, Arman, Buchbinder, Susan, Carrington, Mary N., Cossarizza, Andrea, Dalmau, Judith, De Luca, Andrea, Goedert, James J., Gurdasani, Deepti, Haas, David W., Herbeck, Joshua T., Johnson, Eric O., Kirk, Gregory D., Lambotte, Olivier, Luo, Ma, Mallal, Simon, van Manen, Daniëlle, Martinez-Picado, Javier, Meyer, Laurence, Miro, José M., Mullins, James I., Obel, Niels, Poli, Guido, Sandhu, Manjinder S., Schuitemaker, Hanneke, Shea, Patrick R., Theodorou, Ioannis, Walker, Bruce D., Weintrob, Amy C., Winkler, Cheryl A., Wolinsky, Steven M., Raychaudhuri, Soumya, Goldstein, David B., Telenti, Amalio, de Bakker, Paul I. W., Zagury, Jean-François, and Fellay, Jacques

Published
2015

110. Genetic Variants of APOL1 Are Major Determinants of Kidney Failure in People of African Ancestry With HIV

Author

Hung, Rachel K.Y., primary, Binns-Roemer, Elizabeth, additional, Booth, John W., additional, Hilton, Rachel, additional, Harber, Mark, additional, Santana-Suarez, Beatriz, additional, Campbell, Lucy, additional, Fox, Julie, additional, Ustianowski, Andrew, additional, Cosgrove, Catherine, additional, Burns, James E., additional, Clarke, Amanda, additional, Price, David A., additional, Chadwick, David, additional, Onyango, Denis, additional, Hamzah, Lisa, additional, Bramham, Kate, additional, Sabin, Caroline A., additional, Winkler, Cheryl A., additional, Post, Frank A., additional, Booth, John, additional, Waters, Anele, additional, Hand, James, additional, Clarke, Chris, additional, Murphy, Sarah, additional, Murphy, Maurice, additional, Campbell, Marion, additional, Richardson, Celia, additional, Knott, Alyson, additional, Weir, Gemma, additional, Cleig, Rebecca, additional, Soviarova, Helena, additional, Barbour, Lisa, additional, Adams, Tanya, additional, Kennard, Vicky, additional, Trevitt, Vittorio, additional, Jones, Rachael, additional, Levy, Jeremy, additional, Schoolmeester, Alexandra, additional, Duro, Serah, additional, Rabuya, May, additional, Jordan, Deborah, additional, Solano, Teresa, additional, Uzu, Hiromi, additional, Williams, Karen, additional, Lwanga, Julianne, additional, Reid-Amoruso, Linda Ekaette, additional, Gamlen, Hannah, additional, Stocker, Robert J., additional, Ryan, Fiona, additional, Mahiouz, Karina, additional, Cheetham, Tess, additional, Williams, Claire, additional, Nori, Achyuta, additional, Thomas, Caroline, additional, Venkateshwaran, Sivaraj, additional, Doctor, Jessica, additional, Berlanga, Andrea, additional, Post, Frank, additional, McQueen, Leigh, additional, Bhagwandin, Priya, additional, Barbini, Bee, additional, Wandolo, Emily, additional, Appleby, Tim, additional, Driver, Lois, additional, Parr, Sophy, additional, Deng, Hongbo, additional, Barber, Julie, additional, Crowe, Andrew, additional, Taylor, Chris, additional, Poulton, Mary, additional, Boateng, Vida, additional, Klein, Marie-Pierre, additional, O'Brien, Caitlin, additional, Ohene-Adomako, Samuel, additional, Buckingham, Christian, additional, Trotman, Daniel, additional, Quinn, Killian, additional, Flanagan, Kate, additional, Sullivan, Verity, additional, Middleditch, Holly, additional, Samuel, Itty, additional, Hamlyn, Elizabeth, additional, McDonald, Candice, additional, Canoso, Ana, additional, Agbasi, Emeka, additional, Liskova, Maria, additional, Barber, Sarah, additional, Samarawickrama, Amanda, additional, Ottaway, Zoe, additional, Norcross, Claire, additional, Oliveira, Amelia, additional, Minton, Jane, additional, Lamont, Gary, additional, Cross, Ruby, additional, Saiyad, Gaushiya, additional, Ahmed, Shadia, additional, Ashworth, Rebecca, additional, Window, Nicola, additional, Murira, J., additional, Phyu, Khine, additional, Lindergard, Gabriella, additional, Shaw, Jonathan, additional, Holland, Sarah, additional, Fox, Claire, additional, Flaherty, Jan, additional, Bevan, Margaret-Anne, additional, George, Valerie, additional, Branch, Marie, additional, Lambert, Pauline, additional, Craggs, Adele, additional, Pett, Sarah, additional, Lukha, Hinal, additional, Vora, Nina, additional, Fiorino, Marzia, additional, Nunez, Maria Muller, additional, Sally, Deirdre, additional, Pool, Erica, additional, Matthews, Rebecca, additional, Price, David Ashley, additional, Stothard, Tara, additional, Patel, Bijal, additional, McVittie, Ian, additional, Kennedy, Ciara, additional, Shwab, Uli, additional, Payne, Brendan, additional, Duncan, Sarah, additional, Dixon, Jill, additional, Schmid, Mathias, additional, Evans, Adam, additional, Duncan, Christopher, additional, Hunter, Ewan, additional, Taha, Yusri, additional, Astill, Natasha, additional, Winkler, Cheryl, additional, David, Victor, additional, Ainsworth, Jonathan, additional, Vincent, Rachel, additional, Kegg, Stephen, additional, Saad, Chloe, additional, Skinner, Sarah, additional, Azzoug, Hocine, additional, Russell, Judith, additional, Moussaoui, Tarik, additional, Mabonga, Emily, additional, Ward, Donna, additional, Francoise, J., additional, Larbi, W., additional, Mitchell, Sue, additional, Manning, A., additional, Russell, V., additional, Burns, Fiona, additional, Ngwu, Nnenna, additional, Edwards, Jonathan, additional, Hemat, Nargis, additional, Fernandez, Tom, additional, Ferro, Filippo, additional, Ferreira, Jorge, additional, Nightingale, Alice, additional, Oakes-Monger, Tasha, additional, Matila, Darwin, additional, Nogueira, Pedro, additional, Mutagwanya, Victoria, additional, Isitt, Catherine Emily, additional, Webb, Helen, additional, Popoola, Joyce, additional, Korley, Kate, additional, Mencias, Mark, additional, Ribeiro, Patricia, additional, Ramkhelawn, Rajeshwar, additional, Lara, Sandra Oliva, additional, Sajijad, Sara, additional, Winston, Alan, additional, Shaw, Amber, additional, Petersen, Claire, additional, Ring, Kyle, additional, Rosenvinge, Melanie, additional, Moyo, Thembi, additional, Odong, Faith, additional, Gantert, Katherine, additional, Ibe, Tina, additional, Sabin, Caroline, additional, and Hill, Teresa, additional

Published
2022
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112. Chronic kidney disease (CKD) and associated risk in rural South Africa: a population-based cohort study

Author

Fabian, June, primary, Gondwe, Mwawi, additional, Mayindi, Nokthula, additional, Chipungu, Shingirai, additional, Khoza, Bongekile, additional, Gaylard, Petra, additional, Wade, Alisha N, additional, Gómez-Olivé, F. Xavier, additional, Tomlinson, Laurie A, additional, Ramsay, Michele, additional, Tollman, Stephen, additional, Winkler, Cheryl, additional, George, Jaya A, additional, and Naicker, Saraladevi, additional

Published
2022
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113. PKR activation-induced mitochondrial dysfunction in HIV-transgenic mice with nephropathy

Author

Yoshida, Teruhiko, primary, Latt, Khun Zaw, additional, Rosenberg, Avi Z., additional, Santo, Briana A., additional, Myakala, Komuraiah, additional, Ishimoto, Yu, additional, Zhao, Yongmei, additional, Shrivastav, Shashi, additional, Jones, Bryce A., additional, Yang, Xiaoping, additional, Wang, Xiaoxin X., additional, Tutino, Vincent M., additional, Sarder, Pinaki, additional, Levi, Moshe, additional, Okamoto, Koji, additional, Winkler, Cheryl A., additional, and Kopp, Jeffrey B., additional

Published
2022
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116. Corrigendum to “Genetic Variants of APOL1 Are Major Determinants of Kidney Failure in People of African Ancestry With HIV” [Kidney International Reports Volume 7, Issue 4, April 2022, Pages 786-796]

Author

Hung, Rachel K.Y., Binns-Roemer, Elizabeth, Booth, John W., Hilton, Rachel, Harber, Mark, Santana-Suarez, Beatriz, Campbell, Lucy, Fox, Julie, Ustianowski, Andrew, Cosgrove, Catherine, Burns, James E., Clarke, Amanda, Price, David A., Chadwick, David, Onyango, Denis, Hamzah, Lisa, Bramham, Kate, Sabin, Caroline A., Winkler, Cheryl A., and Post, Frank A.

Published
2024
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117. Evolution of the primate trypanolytic factor APOL1

Author

Thomson, Russell, Genovese, Giulio, Canon, Chelsea, Kovacsics, Daniella, Higgins, Matthew K., Carrington, Mark, Winkler, Cheryl A., Kopp, Jeffrey, Rotimi, Charles, Adeyemo, Adebowale, Doumatey, Ayo, Ayodo, George, Alper, Seth L., Pollak, Martin R., Friedman, David J., and Raper, Jayne

Published
2014

118. Latin Americans show wide-spread Converso ancestry and imprint of local Native ancestry on physical appearance

Author

Chacón-Duque, Juan-Camilo, Adhikari, Kaustubh, Fuentes-Guajardo, Macarena, Mendoza-Revilla, Javier, Acuña-Alonzo, Victor, Barquera, Rodrigo, Quinto-Sánchez, Mirsha, Gómez-Valdés, Jorge, Everardo Martínez, Paola, Villamil-Ramírez, Hugo, Hünemeier, Tábita, Ramallo, Virginia, Silva de Cerqueira, Caio C., Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Villena, Mercedes, Vásquez, René, Llop, Elena, Sandoval, José R., Salazar-Granara, Alberto A., Parolin, Maria-Laura, Sandoval, Karla, Peñaloza-Espinosa, Rosenda I., Rangel-Villalobos, Hector, Winkler, Cheryl A., Klitz, William, Bravi, Claudio, Molina, Julio, Corach, Daniel, Barrantes, Ramiro, Gomes, Verónica, Resende, Carlos, Gusmão, Leonor, Amorim, Antonio, Xue, Yali, Dugoujon, Jean-Michel, Moral, Pedro, González-José, Rolando, Schuler-Faccini, Lavinia, Salzano, Francisco M., Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Poletti, Giovanni, Gallo, Carla, Bedoya, Gabriel, Rothhammer, Francisco, Balding, David, Hellenthal, Garrett, and Ruiz-Linares, Andrés

Published
2018
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120. Sickle Cell Trait and Kidney Disease in People of African Ancestry With HIV

Author

Hung, Rachel K.Y., primary, Binns-Roemer, Elizabeth, additional, Booth, John W., additional, Hilton, Rachel, additional, Fox, Julie, additional, Burns, Fiona, additional, Harber, Mark, additional, Ustianowski, Andrew, additional, Hamzah, Lisa, additional, Burns, James E., additional, Clarke, Amanda, additional, Price, David A., additional, Kegg, Stephen, additional, Onyango, Denis, additional, Santana-Suarez, Beatriz, additional, Campbell, Lucy, additional, Bramham, Kate, additional, Sharpe, Claire C., additional, Sabin, Caroline A., additional, Winkler, Cheryl A., additional, Post, Frank A., additional, Booth, John, additional, Waters, Anele, additional, Hand, James, additional, Clarke, Chris, additional, Murphy, Sarah, additional, Murphy, Maurice, additional, Campbell, Marion, additional, Richardson, Celia, additional, Knott, Alyson, additional, Weir, Gemma, additional, Cleig, Rebecca, additional, Soviarova, Helena, additional, Barbour, Lisa, additional, Adams, Tanya, additional, Kennard, Vicky, additional, Trevitt, Vittorio, additional, Jones, Rachael, additional, Levy, Jeremy, additional, Schoolmeester, Alexandra, additional, Duro, Serah, additional, Rabuya, May, additional, Jordan, Deborah, additional, Solano, Teresa, additional, Uzu, Hiromi, additional, Williams, Karen, additional, Lwanga, Julianne, additional, Reid-Amoruso, Linda Ekaette, additional, Gamlen, Hannah, additional, Stocker, Robert J., additional, Ryan, Fiona, additional, Mahiouz, Karina, additional, Cheetham, Tess, additional, Williams, Claire, additional, Nori, Achyuta, additional, Thomas, Caroline, additional, Venkateshwaran, Sivaraj, additional, Doctor, Jessica, additional, Berlanga, Andrea, additional, Post, Frank, additional, McQueen, Leigh, additional, Bhagwandin, Priya, additional, Barbini, Bee, additional, Wandolo, Emily, additional, Appleby, Tim, additional, Driver, Lois, additional, Parr, Sophy, additional, Deng, Hongbo, additional, Barber, Julie, additional, Crowe, Andrew, additional, Taylor, Chris, additional, Poulton, Mary, additional, Boateng, Vida, additional, Klein, Marie-Pierre, additional, O’Brien, Caitlin, additional, Ohene-Adomako, Samuel, additional, Buckingham, Christian, additional, Trotman, Daniel, additional, Quinn, Killian, additional, Flanagan, Kate, additional, Sullivan, Verity, additional, Middleditch, Holly, additional, Samuel, Itty, additional, Hamlyn, Elizabeth, additional, McDonald, Candice, additional, Canoso, Ana, additional, Agbasi, Emeka, additional, Liskova, Maria, additional, Barber, Sarah, additional, Samarawickrama, Amanda, additional, Ottaway, Zoe, additional, Norcross, Claire, additional, Oliveira, Amelia, additional, Minton, Jane, additional, Lamont, Gary, additional, Cross, Ruby, additional, Saiyad, Gaushiya, additional, Ahmed, Shadia, additional, Ashworth, Rebecca, additional, Window, Nicola, additional, Murira, J., additional, Phyu, Khine, additional, Lindergard, Gabriella, additional, Shaw, Jonathan, additional, Holland, Sarah, additional, Fox, Claire, additional, Flaherty, Jan, additional, Bevan, Margaret-Anne, additional, George, Valerie, additional, Chadwick, David, additional, Branch, Marie, additional, Lambert, Pauline, additional, Craggs, Adele, additional, Pett, Sarah, additional, Lukha, Hinal, additional, Vora, Nina, additional, Fiorino, Marzia, additional, Nunez, Maria Muller, additional, Sally, Deirdre, additional, Pool, Erica, additional, Matthews, Rebecca, additional, Price, David Ashley, additional, Stothard, Tara, additional, Patel, Bijal, additional, McVittie, Ian, additional, Kennedy, Ciara, additional, Shwab, Uli, additional, Payne, Brendan, additional, Duncan, Sarah, additional, Dixon, Jill, additional, Schmid, Mathias, additional, Evans, Adam, additional, Duncan, Christopher, additional, Hunter, Ewan, additional, Taha, Yusri, additional, Astill, Natasha, additional, Winkler, Cheryl, additional, David, Victor, additional, Ainsworth, Jonathan, additional, Vincent, Rachel, additional, Saad, Chloe, additional, Skinner, Sarah, additional, Azzoug, Hocine, additional, Russell, Judith, additional, Moussaoui, Tarik, additional, Mabonga, Emily, additional, Ward, Donna, additional, Francoise, J., additional, Larbi, W., additional, Mitchell, Sue, additional, Manning, A., additional, Russell, V., additional, Ngwu, Nnenna, additional, Edwards, Jonathan, additional, Hemat, Nargis, additional, Fernandez, Tom, additional, Ferro, Filippo, additional, Ferreira, Jorge, additional, Nightingale, Alice, additional, Oakes-Monger, Tasha, additional, Matila, Darwin, additional, Nogueira, Pedro, additional, Mutagwanya, Victoria, additional, Cosgrove, Catherine, additional, Isitt, Catherine Emily, additional, Webb, Helen, additional, Popoola, Joyce, additional, Korley, Kate, additional, Mencias, Mark, additional, Ribeiro, Patricia, additional, Ramkhelawn, Rajeshwar, additional, Lara, Sandra Oliva, additional, Sajijad, Sara, additional, Winston, Alan, additional, Shaw, Amber, additional, Petersen, Claire, additional, Ring, Kyle, additional, Rosenvinge, Melanie, additional, Moyo, Thembi, additional, Odong, Faith, additional, Gantert, Katherine, additional, Ibe, Tina, additional, Sabin, Caroline, additional, and Hill, Teresa, additional

Published
2022
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121. A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis

Author

Yu, Haiyang, Artomov, Mykyta, Brahler, Sebastian, Stander, M. Christine, Shamsan, Ghaidan, Sampson, Matthew G., White, J. Michael, Kretzler, Matthias, Miner, Jeffrey H., Jain, Sanjay, Winkler, Cheryl A., Mitra, Robi D., Kopp, Jeffrey B., Daly, Mark J., and Shaw, Andrey S.

Subjects
Genetic research, Glomerulonephritis -- Genetic aspects -- Risk factors, Genetic variation -- Identification and classification -- Health aspects, Genetic susceptibility -- Research, Health care industry
Abstract

Focal segmental glomerulosclerosis (FSGS) is a syndrome that involves kidney podocyte dysfunction and causes chronic kidney disease. Multiple factors including chemical toxicity, inflammation, and infection underlie FSGS; however, highly penetrant disease genes have been identified in a small fraction of patients with a family history of FSGS. Variants of apolipoprotein L1 (APOL1) have been linked to FSGS in African Americans with HIV or hypertension, supporting the proposal that genetic factors enhance FSGS susceptibility. Here, we used sequencing to investigate whether genetics plays a role in the majority of FSGS cases that are identified as primary or sporadic FSGS and have no known cause. Given the limited number of biopsy-proven cases with ethnically matched controls, we devised an analytic strategy to identify and rank potential candidate genes and used an animal model for validation. Nine candidate FSGS susceptibility genes were identified in our patient cohort, and three were validated using a high-throughput mouse method that we developed. Specifically, we introduced a podocyte-specific, doxycycline-inducible transactivator into a murine embryonic stem cell line with an FSGS-susceptible genetic background that allows shRNA-mediated targeting of candidate genes in the adult kidney. Our analysis supports a broader role for genetic susceptibility of both sporadic and familial cases of FSGS and provides a tool to rapidly evaluate candidate FSGS-associated genes., Introduction The glomerulus of the kidney is a specialized capillary bed that generates an ultrafiltrate that, after modification by the kidney tubule system, becomes urine. Diseases of the glomerulus often [...]

Published
2016
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123. SMOC2 gene interacts with APOL1 in the development of end-stage kidney disease: A genome-wide association study

Author

Chaudhary, Ninad S., primary, Armstrong, Nicole D., additional, Hidalgo, Bertha A., additional, Gutiérrez, Orlando M., additional, Hellwege, Jacklyn N., additional, Limdi, Nita A., additional, Reynolds, Richard J., additional, Judd, Suzanne E., additional, Nadkarni, Girish N., additional, Lange, Leslie, additional, Winkler, Cheryl A., additional, Kopp, Jeffrey B., additional, Arnett, Donna K., additional, Tiwari, Hemant K., additional, and Irvin, Marguerite R., additional

Published
2022
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125. GSTM1 Copy Number and Kidney Disease in People With HIV

Author

Hung, Rachel K.Y., primary, Rosenberg, Kerry-Lee, additional, David, Victor, additional, Binns-Roemer, Elizabeth, additional, Booth, John W., additional, Hilton, Rachel, additional, Fox, Julie, additional, Burns, Fiona, additional, Ustianowski, Andrew, additional, Cosgrove, Catherine, additional, Hamzah, Lisa, additional, Burns, James E., additional, Clarke, Amanda, additional, Chadwick, David, additional, Price, David A., additional, Kegg, Stephen, additional, Campbell, Lucy, additional, Bramham, Kate, additional, Sabin, Caroline A., additional, Post, Frank A., additional, Winkler, Cheryl A., additional, Waters, Anele, additional, Hand, James, additional, Clarke, Chris, additional, Murphy, Sarah, additional, Murphy, Maurice, additional, Campbell, Marion, additional, Richardson, Celia, additional, Knott, Alyson, additional, Weir, Gemma, additional, Cleig, Rebecca, additional, Soviarova, Helena, additional, Barbour, Lisa, additional, Adams, Tanya, additional, Kennard, Vicky, additional, Trevitt, Vittorio, additional, Jones, Rachael, additional, Levy, Jeremy, additional, Schoolmeester, Alexandra, additional, Duro, Serah, additional, Rabuya, May, additional, Jordan, Deborah, additional, Solano, Teresa, additional, Uzu, Hiromi, additional, Williams, Karen, additional, Lwanga, Julianne, additional, Reid-Amoruso, Linda Ekaette, additional, Gamlen, Hannah, additional, Stocker, Robert J., additional, Ryan, Fiona, additional, Mahiouz, Karina, additional, Cheetham, Tess, additional, Williams, Claire, additional, Nori, Achyuta, additional, Thomas, Caroline, additional, Venkateshwaran, Sivaraj, additional, Doctor, Jessica, additional, Berlanga, Andrea, additional, Santana-Suarez, Beatriz, additional, McQueen, Leigh, additional, Bhagwandin, Priya, additional, Barbini, Bee, additional, Wandolo, Emily, additional, Appleby, Tim, additional, Driver, Lois, additional, Parr, Sophy, additional, Deng, Hongbo, additional, Barber, Julie, additional, Crowe, Andrew, additional, Taylor, Chris, additional, Poulton, Mary, additional, Boateng, Vida, additional, Klein, Marie-Pierre, additional, O'Brien, Caitlin, additional, Ohene-Adomako, Samuel, additional, Buckingham, Christian, additional, Trotman, Daniel, additional, Quinn, Killian, additional, Flanagan, Kate, additional, Sullivan, Verity, additional, Middleditch, Holly, additional, Samuel, Itty, additional, Hamlyn, Elizabeth, additional, McDonald, Candice, additional, Canoso, Ana, additional, Agbasi, Emeka, additional, Liskova, Maria, additional, Barber, Sarah, additional, Samarawickrama, Amanda, additional, Ottaway, Zoe, additional, Norcross, Claire, additional, Oliveira, Amelia, additional, Minton, Jane, additional, Lamont, Gary, additional, Cross, Ruby, additional, Saiyad, Gaushiya, additional, Ahmed, Shadia, additional, Ashworth, Rebecca, additional, Window, Nicola, additional, Murira, J., additional, Phyu, Khine, additional, Lindergard, Gabriella, additional, Shaw, Jonathan, additional, Holland, Sarah, additional, Fox, Claire, additional, Flaherty, Jan, additional, Bevan, Margaret-Anne, additional, George, Valerie, additional, Branch, Marie, additional, Lambert, Pauline, additional, Craggs, Adele, additional, Pett, Sarah, additional, Lukha, Hinal, additional, Vora, Nina, additional, Fiorino, Marzia, additional, Nunez, Maria Muller, additional, Sally, Deirdre, additional, Pool, Erica, additional, Matthews, Rebecca, additional, Stothard, Tara, additional, Patel, Bijal, additional, McVittie, Ian, additional, Kennedy, Ciara, additional, Shwab, Uli, additional, Payne, Brendan, additional, Duncan, Sarah, additional, Dixon, Jill, additional, Schmid, Mathias, additional, Evans, Adam, additional, Duncan, Christopher, additional, Hunter, Ewan, additional, Taha, Yusri, additional, Astill, Natasha, additional, Ainsworth, Jonathan, additional, Vincent, Rachel, additional, Saad, Chloe, additional, Skinner, Sarah, additional, Azzoug, Hocine, additional, Russell, Judith, additional, Moussaoui, Tarik, additional, Mabonga, Emily, additional, Ward, Donna, additional, Francoise, J., additional, Larbi, W., additional, Mitchell, Sue, additional, Manning, A., additional, Russell, V., additional, Harber, Mark, additional, Ngwu, Nnenna, additional, Edwards, Jonathan, additional, Hemat, Nargis, additional, Fernandez, Tom, additional, Ferro, Filippo, additional, Ferreira, Jorge, additional, Nightingale, Alice, additional, Oakes-Monger, Tasha, additional, Matila, Darwin, additional, Nogueira, Pedro, additional, Mutagwanya, Victoria, additional, Isitt, Catherine Emily, additional, Webb, Helen, additional, Popoola, Joyce, additional, Korley, Kate, additional, Mencias, Mark, additional, Ribeiro, Patricia, additional, Ramkhelawn, Rajeshwar, additional, Lara, Sandra Oliva, additional, Sajijad, Sara, additional, Winston, Alan, additional, Shaw, Amber, additional, Petersen, Claire, additional, Ring, Kyle, additional, Rosenvinge, Melanie, additional, Moyo, Thembi, additional, Odong, Faith, additional, Gantert, Katherine, additional, Ibe, Tina, additional, Onyango, Denis, additional, and Hill, Teresa, additional

Published
2022
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126. Alpha globin gene copy number and hypertension risk among Black Americans

Author

Ruhl, A. Parker, primary, Jeffries, Neal, additional, Yang, Yu, additional, Gutierrez, Orlando M., additional, Muntner, Paul, additional, Naik, Rakhi P., additional, Pecker, Lydia H., additional, Mott, Bryan T., additional, Zakai, Neil A., additional, Safford, Monika M., additional, Lange, Leslie A., additional, Winkler, Cheryl A., additional, Irvin, Marguerite R., additional, Cushman, Mary, additional, and Ackerman, Hans C., additional

Published
2022
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129. Apolipoprotein L1 gene variants associate with hypertension-attributed nephropathy and the rate of kidney function decline in African Americans

Author

Lipkowitz, Michael S., Freedman, Barry I., Langefeld, Carl D., Comeau, Mary E., Bowden, Donald W., Linda Kao, W.H., Astor, Brad C., Bottinger, Erwin P., Iyengar, Sudha K., Klotman, Paul E., Freedman, Richard G., Zhang, Weijia, Parekh, Rulan S., Choi, Michael J., Nelson, George W., Winkler, Cheryl A., and Kopp, Jeffrey B.

Published
2013
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131. GSTM1 Copy Number and Kidney Disease in People With HIV

Author

Waters, Anele, Hand, James, Clarke, Chris, Murphy, Sarah, Murphy, Maurice, Campbell, Marion, Richardson, Celia, Knott, Alyson, Weir, Gemma, Cleig, Rebecca, Soviarova, Helena, Barbour, Lisa, Adams, Tanya, Kennard, Vicky, Trevitt, Vittorio, Jones, Rachael, Levy, Jeremy, Schoolmeester, Alexandra, Duro, Serah, Rabuya, May, Jordan, Deborah, Solano, Teresa, Uzu, Hiromi, Williams, Karen, Lwanga, Julianne, Reid-Amoruso, Linda Ekaette, Gamlen, Hannah, Stocker, Robert J., Ryan, Fiona, Mahiouz, Karina, Cheetham, Tess, Williams, Claire, Nori, Achyuta, Thomas, Caroline, Venkateshwaran, Sivaraj, Doctor, Jessica, Berlanga, Andrea, Santana-Suarez, Beatriz, McQueen, Leigh, Bhagwandin, Priya, Barbini, Bee, Wandolo, Emily, Appleby, Tim, Driver, Lois, Parr, Sophy, Deng, Hongbo, Barber, Julie, Crowe, Andrew, Taylor, Chris, Poulton, Mary, Boateng, Vida, Klein, Marie-Pierre, O'Brien, Caitlin, Ohene-Adomako, Samuel, Buckingham, Christian, Trotman, Daniel, Quinn, Killian, Flanagan, Kate, Sullivan, Verity, Middleditch, Holly, Samuel, Itty, Hamlyn, Elizabeth, McDonald, Candice, Canoso, Ana, Agbasi, Emeka, Liskova, Maria, Barber, Sarah, Samarawickrama, Amanda, Ottaway, Zoe, Norcross, Claire, Oliveira, Amelia, Minton, Jane, Lamont, Gary, Cross, Ruby, Saiyad, Gaushiya, Ahmed, Shadia, Ashworth, Rebecca, Window, Nicola, Murira, J., Phyu, Khine, Lindergard, Gabriella, Shaw, Jonathan, Holland, Sarah, Fox, Claire, Flaherty, Jan, Bevan, Margaret-Anne, George, Valerie, Branch, Marie, Lambert, Pauline, Craggs, Adele, Pett, Sarah, Lukha, Hinal, Vora, Nina, Fiorino, Marzia, Nunez, Maria Muller, Sally, Deirdre, Pool, Erica, Matthews, Rebecca, Stothard, Tara, Patel, Bijal, McVittie, Ian, Kennedy, Ciara, Shwab, Uli, Payne, Brendan, Duncan, Sarah, Dixon, Jill, Schmid, Mathias, Evans, Adam, Duncan, Christopher, Hunter, Ewan, Taha, Yusri, Astill, Natasha, Ainsworth, Jonathan, Vincent, Rachel, Saad, Chloe, Skinner, Sarah, Azzoug, Hocine, Russell, Judith, Moussaoui, Tarik, Mabonga, Emily, Ward, Donna, Francoise, J., Larbi, W., Mitchell, Sue, Manning, A., Russell, V., Harber, Mark, Ngwu, Nnenna, Edwards, Jonathan, Hemat, Nargis, Fernandez, Tom, Ferro, Filippo, Ferreira, Jorge, Nightingale, Alice, Oakes-Monger, Tasha, Matila, Darwin, Nogueira, Pedro, Mutagwanya, Victoria, Isitt, Catherine Emily, Webb, Helen, Popoola, Joyce, Korley, Kate, Mencias, Mark, Ribeiro, Patricia, Ramkhelawn, Rajeshwar, Lara, Sandra Oliva, Sajijad, Sara, Winston, Alan, Shaw, Amber, Petersen, Claire, Ring, Kyle, Rosenvinge, Melanie, Moyo, Thembi, Odong, Faith, Gantert, Katherine, Ibe, Tina, Onyango, Denis, Hill, Teresa, Hung, Rachel K.Y., Rosenberg, Kerry-Lee, David, Victor, Binns-Roemer, Elizabeth, Booth, John W., Hilton, Rachel, Fox, Julie, Burns, Fiona, Ustianowski, Andrew, Cosgrove, Catherine, Hamzah, Lisa, Burns, James E., Clarke, Amanda, Chadwick, David, Price, David A., Kegg, Stephen, Campbell, Lucy, Bramham, Kate, Sabin, Caroline A., Post, Frank A., and Winkler, Cheryl A.

Published
2022
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132. Renal Risk Variants and Sickle Cell Trait Associations With Reduced Kidney Function in a Large Congolese Population-Based Study.

Author

UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (MGD) Service de néphrologie, Masimango, Mannix Imani, Jadoul, Michel, Binns-Roemer, Elizabeth A, David, Victor A, Sumaili, Ernest Kiswaya, Winkler, Cheryl A, Limou, Sophie, UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (MGD) Service de néphrologie, Masimango, Mannix Imani, Jadoul, Michel, Binns-Roemer, Elizabeth A, David, Victor A, Sumaili, Ernest Kiswaya, Winkler, Cheryl A, and Limou, Sophie

Abstract

risk variants, and sickle cell trait (SCT) are associated with chronic kidney disease (CKD) among African Americans (AAs). Nevertheless, such evidence remains scarce in sub-Saharan Africa (SSA) populations. In a cross-sectional study, we evaluated the prevalence of these risk variants and their association with estimated glomerular filtration rate (eGFR), albuminuria, and CKD in urban (n = 587) and rural (n = 730) adults from South-Kivu, DR Congo (DRC). Furthermore, we evaluated recessive model (high risk [HR] vs. low risk [LR]), SCT carriage, and the active versus inactive genotypes. The frequencies of the G1 and G2 alleles were 8.7% and 9.1%, respectively, and 3.2% carried the HR genotype. SCT and null allele frequencies were 3.8% and 51.2%, respectively. HR was associated with lower eGFR ( = 0.047, odds ratio [OR] = 4). Individuals with SCT exhibited lower eGFR ( = 0.018), higher albuminuria ( = 0.032), and 2.4× increased risk of CKD ( = 0.031). HR and SCT were synergistically associated with lower eGFR ( = 0.012). The null allele was not significantly associated with any renal outcomes. Our study highlighted the impact of and SCT variants on poorer renal outcomes in the DRC and advocates for further genetic studies in SSA settings.

Published
2022

133. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Author

UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, Köttgen, Anna, Cornec-Le Gall, Emilie, Halbritter, Jan, Kiryluk, Krzysztof, Mallett, Andrew J., Parekh, Rulan S., Rasouly, Hila Milo, Sampson, Matthew G., Tin, Adrienne, Antignac, Corinne, Ars, Elisabet, Bergmann, Carsten, Bleyer, Anthony J., Bockenhauer, Detlef, Devuyst, Olivier, Florez, Jose C., Fowler, Kevin J., Franceschini, Nora, Fukagawa, Masafumi, Gale, Daniel P., Gbadegesin, Rasheed A., Goldstein, David B., Grams, Morgan E., Greka, Anna, Gross, Oliver, Guay-Woodford, Lisa M., Harris, Peter C., Hoefele, Julia, Hung, Adriana M., Knoers, Nine V.A.M., Kopp, Jeffrey B., Kretzler, Matthias, Lanktree, Matthew B., Lipska-Ziętkiewicz, Beata S., Nicholls, Kathleen, Nozu, Kandai, Ojo, Akinlolu, Parsa, Afshin, Pattaro, Cristian, Pei, York, Pollak, Martin R., Rhee, Eugene P., Sanna-Cherchi, Simone, Savige, Judy, Sayer, John A., Scolari, Francesco, Sedor, John R., Sim, Xueling, Somlo, Stefan, Susztak, Katalin, Tayo, Bamidele O., Torra, Roser, van Eerde, Albertien M., Weinstock, André, Winkler, Cheryl A., Wuttke, Matthias, Zhang, Hong, King, Jennifer M., Cheung, Michael, Jadoul, Michel, Winkelmayer, Wolfgang C., Gharavi, Ali G., UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, Köttgen, Anna, Cornec-Le Gall, Emilie, Halbritter, Jan, Kiryluk, Krzysztof, Mallett, Andrew J., Parekh, Rulan S., Rasouly, Hila Milo, Sampson, Matthew G., Tin, Adrienne, Antignac, Corinne, Ars, Elisabet, Bergmann, Carsten, Bleyer, Anthony J., Bockenhauer, Detlef, Devuyst, Olivier, Florez, Jose C., Fowler, Kevin J., Franceschini, Nora, Fukagawa, Masafumi, Gale, Daniel P., Gbadegesin, Rasheed A., Goldstein, David B., Grams, Morgan E., Greka, Anna, Gross, Oliver, Guay-Woodford, Lisa M., Harris, Peter C., Hoefele, Julia, Hung, Adriana M., Knoers, Nine V.A.M., Kopp, Jeffrey B., Kretzler, Matthias, Lanktree, Matthew B., Lipska-Ziętkiewicz, Beata S., Nicholls, Kathleen, Nozu, Kandai, Ojo, Akinlolu, Parsa, Afshin, Pattaro, Cristian, Pei, York, Pollak, Martin R., Rhee, Eugene P., Sanna-Cherchi, Simone, Savige, Judy, Sayer, John A., Scolari, Francesco, Sedor, John R., Sim, Xueling, Somlo, Stefan, Susztak, Katalin, Tayo, Bamidele O., Torra, Roser, van Eerde, Albertien M., Weinstock, André, Winkler, Cheryl A., Wuttke, Matthias, Zhang, Hong, King, Jennifer M., Cheung, Michael, Jadoul, Michel, Winkelmayer, Wolfgang C., and Gharavi, Ali G.

Published
2022

135. Multicohort Genomewide Association Study Reveals a New Signal of Protection Against HIV-1 Acquisition

Author

Limou, Sophie, Delaneau, Olivier, van Manen, Daniëlle, An, Ping, Sezgin, Efe, Le Clerc, Sigrid, Coulonges, Cédric, Troyer, Jennifer L., Veldink, Jan H., van den Berg, Leonard H., Spadoni, Jean-Louis, Taing, Lieng, Labib, Taoufik, Montes, Matthieu, Delfraissy, Jean-François, Schachter, François, O'Brien, Stephen J., Buchbinder, Susan, van Natta, Mark L., Jabs, Douglas A., Froguel, Philippe, Schuitemaker, Hanneke, Winkler, Cheryl A., and Zagury, Jean-François

Published
2012
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140. Genome-Wide Association Study Implicates PARD3B-Based AIDS Restriction

Author

Troyer, Jennifer L., Nelson, George W., Lautenberger, James A., Chinn, Leslie, McIntosh, Carl, Johnson, Randall C., Sezgin, Efe, Kessing, Bailey, Malasky, Michael, Hendrickson, Sher L., Li, Guan, Pontius, Joan, Tang, Minzhong, An, Ping, Winkler, Cheryl A., Limou, Sophie, Le Clerc, Sigrid, Delaneau, Olivier, Zagury, Jean-François, Schuitemaker, Hanneke, van Manen, Daniëlle, Bream, Jay H., Gomperts, Edward D., Buchbinder, Susan, Goedert, James J., Kirk, Gregory D., and O'Brien, Stephen J.

Published
2011
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142. APOL1 risk variants associated with serum albumin in a population-based cohort study

Author

Chaudhary, Ninad S, Tiwari, Hemant K., Hidalgo, Bertha A, Limdi, Nita A, Reynolds, Richard J, Cushman, Mary, Zakai, Neil A, Lange, Leslie, Judd, Suzanne E, Winkler, Cheryl A., Kopp, Jeffrey B, Gutiérrez, Orlando M., and Irvin, Marguerite R

Subjects
Adult, Cohort Studies, Risk Factors, Humans, Prospective Studies, Middle Aged, Renal Insufficiency, Chronic, Apolipoprotein L1, Article, Serum Albumin, Glomerular Filtration Rate
Abstract

The association of apolipoprotein L1 (APOL1) nephropathy risk variants (APOL1), unique to African-ancestry (African-American [AA]) populations, with systemic inflammation, a contributor to chronic kidney disease (CKD) and end-stage kidney disease (ESKD) is ill-defined. This study aimed to describe the role of inflammatory markers in the relationship between APOL1 and incident kidney outcomes using a prospective cohort study.APOL1 high-risk status under a recessive genetic model was studied in 10,605 AA adults aged ≥45 years from the Reasons for Geographic and Racial Differences in Stroke study. The primary variables of interest were inflammatory markers: C-reactive protein (mg/dL), white blood cell count (cells/mm3), and serum albumin (sALB) (mg/dL). High inflammation status was defined if at least one of these inflammatory markers exceeded clinical threshold. The association between APOL1 and biomarkers were assessed using regression models adjusting for age, sex, ancestry, hypertension, lipid medications, albumin-to-creatinine ratio, and estimated glomerular filtration rate (eGFR). Models were stratified by diabetes status. We identified incident ESKD using USRDS linkage, and we defined incident CKD as an eGFR60 mL/min/1.73 m2 and ≥25% decline in the eGFR and normal baseline eGFR and tested for mediation of APOL1 and outcomes by biomarkers using the causal inference approach.Among 7,151 participants with data available on all inflammation markers, 4,479 participants had ≥1 marker meeting the clinical threshold. APOL1 high-risk status was associated with lower adjusted odds of reduced sALB {odds ratio (OR) (95% confidence interval [CI]): 0.59 [0.36, 0.96])}, and this association was significant in people with diabetes (OR [95% CI]: 0.40 [0.18, 0.89]) but not in those without diabetes. There was no association of APOL1 high-risk status with other markers or high inflammation status. APOL1 was independently associated with ESKD (OR [95% CI] = 1.78 [1.28, 2.48]) and CKD (OR [95% CI] = 1.38 [1.00, 1.91]). On mediation analysis, the direct effect between APOL1 and ESKD strengthened after accounting for sALB, but the estimated mediated effect was not statistically significant (OR [95% CI]: 0.98 [0.92, 1.05], p = 0.58).APOL1 high-risk variants were associated with sALB. However, sALB did not statistically mediate the association between APOL1 and incident ESKD.

Published
2022

143. Renal Risk Variants and Sickle Cell Trait Associations With Reduced Kidney Function in a Large Congolese Population-Based Study

Author

Masimango, Mannix Imani, Jadoul, Michel, Binns-Roemer, Elizabeth A, David, Victor A, Sumaili, Ernest Kiswaya, Winkler, Cheryl A, Limou, Sophie, UCL - SSS/IREC/NEFR - Pôle de Néphrologie, and UCL - (MGD) Service de néphrologie

Subjects
renal risk, prevalence, APOL1, DR Congo, GSTM1, SCT
Abstract

risk variants, and sickle cell trait (SCT) are associated with chronic kidney disease (CKD) among African Americans (AAs). Nevertheless, such evidence remains scarce in sub-Saharan Africa (SSA) populations. In a cross-sectional study, we evaluated the prevalence of these risk variants and their association with estimated glomerular filtration rate (eGFR), albuminuria, and CKD in urban (n = 587) and rural (n = 730) adults from South-Kivu, DR Congo (DRC). Furthermore, we evaluated recessive model (high risk [HR] vs. low risk [LR]), SCT carriage, and the active versus inactive genotypes. The frequencies of the G1 and G2 alleles were 8.7% and 9.1%, respectively, and 3.2% carried the HR genotype. SCT and null allele frequencies were 3.8% and 51.2%, respectively. HR was associated with lower eGFR ( = 0.047, odds ratio [OR] = 4). Individuals with SCT exhibited lower eGFR ( = 0.018), higher albuminuria ( = 0.032), and 2.4× increased risk of CKD ( = 0.031). HR and SCT were synergistically associated with lower eGFR ( = 0.012). The null allele was not significantly associated with any renal outcomes. Our study highlighted the impact of and SCT variants on poorer renal outcomes in the DRC and advocates for further genetic studies in SSA settings.

Published
2022

144. Additional file 1 of Etiology of Persistent Microalbuminuria in Nigeria (P_MICRO study): protocol and study design

Author

Wester, C. William, Shepherd, Bryan E., Wudil, Usman J., Musa, Baba Maiyaki, Ingles, Donna J., Prigmore, Heather L., Dankishiya, Faisal S., Ahonkhai, Aima A., Grema, Bukar A., Budge, Philip J., Takakura, Ayumi, Olabisi, Opeyemi A., Winkler, Cheryl A., Kopp, Jeffrey B., Bonventre, Joseph V., Wyatt, Christina M., and Aliyu, Muktar H.

Abstract

Additional file 1. SPIRIT Checklist for Trials.

Published
2022
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145. Additional file 2 of Etiology of Persistent Microalbuminuria in Nigeria (P_MICRO study): protocol and study design

Author

Wester, C. William, Shepherd, Bryan E., Wudil, Usman J., Musa, Baba Maiyaki, Ingles, Donna J., Prigmore, Heather L., Dankishiya, Faisal S., Ahonkhai, Aima A., Grema, Bukar A., Budge, Philip J., Takakura, Ayumi, Olabisi, Opeyemi A., Winkler, Cheryl A., Kopp, Jeffrey B., Bonventre, Joseph V., Wyatt, Christina M., and Aliyu, Muktar H.

Subjects
Data_FILES, GeneralLiterature_MISCELLANEOUS
Abstract

Additional file 2. SPIRIT Figure.

Published
2022
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146. Multiple-Cohort Genetic Association Study Reveals CXCR6 as a New Chemokine Receptor Involved in Long-Term Nonprogression to AIDS

Author

Limou, Sophie, Coulonges, Cédric, Herbeck, Joshua T., van Manen, Daniëlle, An, Ping, Le Clerc, Sigrid, Delaneau, Olivier, Diop, Gora, Taing, Lieng, Montes, Matthieu, Wout, Angélique B. van't, Gottlieb, Geoffrey S., Therwath, Amu, Rouzioux, Christine, Delfraissy, Jean-François, Lelièvre, Jean-Daniel, Lévy, Yves, Hercberg, Serge, Dina, Christian, Phair, John, Donfield, Sharyne, Goedert, James J., Buchbinder, Susan, Estaquier, Jérôme, Schächter, François, Gut, Ivo, Froguel, Philippe, Mullins, James I., Schuitemaker, Hanneke, Winkler, Cheryl, and Zagury, Jean-François

Published
2010

147. Reply to Itaya et al

Author

Winkler, Cheryl A., An, Ping, Buchbinder, Susan, Donfield, Sharyne, Goedert, James, Johnson, Randall, Kirk, Gregory, Nelson, George W., and Yu, Xiao-Fang

Published
2010

148. Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans

Author

Genovese, Giulio, Friedman, David J., Ross, Michael D., Lecordier, Laurence, Uzureau, Pierrick, Freedman, Barry I., Bowden, Donald W., Langefeld, Carl D., Oleksyk, Taras K., Knob, Andrea L. Uscinski, Bernhardy, Andrea J., Hicks, Pamela J., Nelson, George W., Vanhollebeke, Benoit, Winkler, Cheryl A., Kopp, Jeffrey B., Pays, Etienne, and Pollak, Martin R.

Published
2010

149. Multistage Genomewide Association Study Identifies a Locus at 1q41 Associated with Rate of HIV-1 Disease Progression to Clinical AIDS

Author

Herbeck, Joshua T., Gottlieb, Geoffrey S., Winkler, Cheryl A., Nelson, George W., An, Ping, Maust, Brandon S., Wong, Kim G., Troyer, Jennifer L., Goedert, James J., Kessing, Bailey D., Detels, Roger, Wolinsky, Steven M., Martinson, Jeremy, Buchbinder, Susan, Kirk, Gregory D., Jacobson, Lisa P., Margolick, Joseph B., Kaslow, Richard A., O'Brien, Stephen J., and Mullins, James I.

Published
2010

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