Search

Your search keyword '"Winkler, Cheryl A."' showing total 1,046 results
Start Over Author "Winkler, Cheryl A."
1,046 results on '"Winkler, Cheryl A."'

2. Living kidney donors with HIV: experience and outcomes from a case series by the HOPE in Action Consortium.

Author

Durand, Christine, Martinez, Nina, Neumann, Karl, Benedict, Reed, Baker, Arthur, Wolfe, Cameron, Stosor, Valentina, Shetty, Aneesha, Dietch, Zachary, Goudy, Leah, Callegari, Michelle, Massie, Allan, Brown, Diane, Cochran, Willa, Muzaale, Abimereki, Fine, Derek, Tobian, Aaron, Winkler, Cheryl, Segev, Dorry, and Al Ammary, Fawaz

Subjects
HIV Organ Policy Equity Act, HIV donation, HIV to HIV transplantation, HOPE Act, Living kidney donation, Transplantation from donors with HIV to recipients with HIV
Abstract

BACKGROUND: Living kidney donation is possible for people living with HIV (PLWH) in the United States within research studies under the HIV Organ Policy Equity (HOPE) Act. There are concerns that donor nephrectomy may have an increased risk of end-stage renal disease (ESRD) in PLWH due to HIV-associated kidney disease and antiretroviral therapy (ART) nephrotoxicity. Here we report the first 3 cases of living kidney donors with HIV under the HOPE Act in the United States. METHODS: Within the HOPE in Action Multicenter Consortium, we conducted a prospective study of living kidney donors with HIV. Pre-donation, we estimated the 9-year cumulative incidence of ESRD, performed genetic testing of apolipoprotein L1 (APOL1), excluding individuals with high-risk variants, and performed pre-donation kidney biopsies (HOPE Act requirement). The primary endpoint was ≥grade 3 nephrectomy-related adverse events (AEs) in year one. Post-donation, we monitored glomerular filtration rate (measured by iohexol/Tc-99m DTPA [mGFR] or estimated with serum creatinine [eGFR]), HIV RNA, CD4 count, and ART. FINDINGS: There were three donors with two-four years of follow-up: a 35 year-old female, a 52 year-old male, and a 47 year-old male. Pre-donation 9-year estimated cumulative incidence of ESRD was 3.01, 8.01, and 7.76 per 10,000 persons, respectively. In two donors with APOL1 testing, no high-risk variants were detected. Biopsies from all three donors showed no kidney disease. Post-donation, two donors developed nephrectomy-related ≥grade 3 AEs: a medically-managed ileus and a laparoscopically-repaired incisional hernia. GFR declined from 103 to 84 mL/min/1.73 m2 at four years (mGFR) in donor 1, from 77 to 52 mL/min/1.73 m2 at three years (eGFR) in donor 2, and from 65 to 39 mL/min/1.73 m2 at two years (eGFR) in donor 3. HIV RNA remained

Published
2023

3. Associations between APOL1 genetic variants and blood pressure in African American mothers and children from a U.S. pregnancy cohort: Modification by air pollution exposures

Author

Ni, Yu, Simpson, Claire L, Davis, Robert L, Szpiro, Adam A, Karr, Catherine J, Kovesdy, Csaba P, Hjorten, Rebecca C, Tylavsky, Frances A, Bush, Nicole R, LeWinn, Kaja Z, Winkler, Cheryl A, Kopp, Jeffrey B, and Obi, Yoshitsugu

Subjects
Biological Sciences, Environmental Sciences, Chemical Sciences, Genetics, Human Genome, Cardiovascular, Clinical Research, Prevention, 2.1 Biological and endogenous factors, 2.2 Factors relating to the physical environment, Aetiology, Reproductive health and childbirth, Good Health and Well Being, Black or African American, Air Pollution, Apolipoprotein L1, Blood Pressure, Child, Child, Preschool, Female, Genotype, Humans, Hypertension, Male, Mothers, Particulate Matter, Pregnancy, APOL1 genetic variants, Blood pressure, Air pollution exposures, Child health, Gene -environment interaction, Gene–environment interaction, Toxicology, Biological sciences, Chemical sciences, Environmental sciences
Abstract

IntroductionCarriage of high-risk APOL1 genetic variants is associated with increased risks for kidney diseases in people of African descent. Less is known about the variants' associations with blood pressure or potential moderators.MethodsWe investigated these associations in a pregnancy cohort of 556 women and 493 children identified as African American. Participants with two APOL1 risk alleles were defined as having the high-risk genotype. Blood pressure in both populations was measured at the child's 4-6 years visit. We fit multivariate linear and Poisson regressions and further adjusted for population stratification to estimate the APOL1-blood pressure associations. We also examined the associations modified by air pollution exposures (particulate matter ≤2.5 μ m in aerodynamic diameter [PM2.5] and nitrogen dioxide) and explored other moderators such as health conditions and behaviors.ResultsNeither APOL1 risk alleles nor risk genotypes had a main effect on blood pressure in mothers or children. However, each 2-μg/m3 increase of four-year average PM2.5 was associated with a 16.3 (95%CI: 5.7, 26.9) mmHg higher diastolic blood pressure in mothers with the APOL1 high-risk genotype, while the estimated effect was much smaller in mothers with the low-risk genotype (i.e., 2.9 [95%CI: -3.1, 8.8] mmHg; Pinteraction = 0.01). Additionally, the associations of APOL1 risk alleles and the high-risk genotype with high blood pressure (i.e., SBP and/or DBP ≥ 90th percentile) were stronger in girls vs. boys (Pinteraction = 0.02 and 0.005, respectively).ConclusionThis study sheds light on the distribution of high blood pressure by APOL1 genetic variants and informs regulatory policy to protect vulnerable population subgroups.

Published
2022

4. Single-Nucleus RNA Sequencing Reveals Loss of Distal Convoluted Tubule 1 Renal Tubules in HIV Viral Protein R Transgenic Mice

Author

Latt, Khun Zaw, Yoshida, Teruhiko, Shrivastav, Shashi, Abedini, Amin, Reece, Jeff M., Sun, Zeguo, Lee, Hewang, Okamoto, Koji, Dagur, Pradeep, Ishimoto, Yu, Heymann, Jurgen, Zhao, Yongmei, Chung, Joon-Yong, Hewitt, Stephen, Jose, Pedro A., Lee, Kyung, He, John Cijiang, Winkler, Cheryl A., Knepper, Mark A., Kino, Tomoshige, Rosenberg, Avi Z., Susztak, Katalin, and Kopp, Jeffrey B.

Published
2024
Full Text
View/download PDF

5. Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group

Author

Ars, Elisabet, Reza Bekheirnia, Mir, Bier, Louise, Bleyer, Anthony J., Sr., Fuller, Lindsey J., Halbritter, Jan, Harris, Peter C., Kiryluk, Krzysztof, Knoers, Nine V.A.M., Kopp, Jeffrey B., Kramer, Holly, Lagas, Sharon S., Lieske, John C., Lu, Weining, Mannon, Roslyn B., Markowitz, Glen, Moe, Orson W., Nadkarni, Girish N., Nast, Cynthia C., Parekh, Rulan S., Pei, York, Reed, Katie, Rehm, Heidi L., Richards, Denay J., Roberts, Mary-Beth, Sabatello, Maya, Salant, David J., Sampson, Matthew G., Sanna-Cherchi, Simone, Santoriello, Dominick, Sedor, John R., Sneddon, Tam P., Watnick, Terry, Wilfond, Benjamin S., Williams, Winfred W., Wong, Craig S., Franceschini, Nora, Feldman, David L., Berg, Jonathan S., Besse, Whitney, Chang, Alexander R., Dahl, Neera K., Gbadegesin, Rasheed, Pollak, Martin R., Rasouly, Hila Milo, Smith, Richard J.H., Winkler, Cheryl A., and Gharavi, Ali G.

Published
2024
Full Text
View/download PDF

6. Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease

Author

Gupta, Yask, Friedman, David J., McNulty, Michelle T., Khan, Atlas, Lane, Brandon, Wang, Chen, Ke, Juntao, Jin, Gina, Wooden, Benjamin, Knob, Andrea L., Lim, Tze Y., Appel, Gerald B., Huggins, Kinsie, Liu, Lili, Mitrotti, Adele, Stangl, Megan C., Bomback, Andrew, Westland, Rik, Bodria, Monica, Marasa, Maddalena, Shang, Ning, Cohen, David J., Crew, Russell J., Morello, William, Canetta, Pietro, Radhakrishnan, Jai, Martino, Jeremiah, Liu, Qingxue, Chung, Wendy K., Espinoza, Angelica, Luo, Yuan, Wei, Wei-Qi, Feng, Qiping, Weng, Chunhua, Fang, Yilu, Kullo, Iftikhar J., Naderian, Mohammadreza, Limdi, Nita, Irvin, Marguerite R., Tiwari, Hemant, Mohan, Sumit, Rao, Maya, Dube, Geoffrey K., Chaudhary, Ninad S., Gutiérrez, Orlando M., Judd, Suzanne E., Cushman, Mary, Lange, Leslie A., Lange, Ethan M., Bivona, Daniel L., Verbitsky, Miguel, Winkler, Cheryl A., Kopp, Jeffrey B., Santoriello, Dominick, Batal, Ibrahim, Pinheiro, Sérgio Veloso Brant, Oliveira, Eduardo Araújo, Simoes e Silva, Ana Cristina, Pisani, Isabella, Fiaccadori, Enrico, Lin, Fangming, Gesualdo, Loreto, Amoroso, Antonio, Ghiggeri, Gian Marco, D’Agati, Vivette D., Magistroni, Riccardo, Kenny, Eimear E., Loos, Ruth J. F., Montini, Giovanni, Hildebrandt, Friedhelm, Paul, Dirk S., Petrovski, Slavé, Goldstein, David B., Kretzler, Matthias, Gbadegesin, Rasheed, Gharavi, Ali G., Kiryluk, Krzysztof, Sampson, Matthew G., Pollak, Martin R., and Sanna-Cherchi, Simone

Published
2023
Full Text
View/download PDF

7. Africa-specific human genetic variation near CHD1L associates with HIV-1 load

Author

McLaren, Paul J., Porreca, Immacolata, Iaconis, Gennaro, Mok, Hoi Ping, Mukhopadhyay, Subhankar, Karakoc, Emre, Cristinelli, Sara, Pomilla, Cristina, Bartha, István, Thorball, Christian W., Tough, Riley H., Angelino, Paolo, Kiar, Cher S., Carstensen, Tommy, Fatumo, Segun, Porter, Tarryn, Jarvis, Isobel, Skarnes, William C., Bassett, Andrew, DeGorter, Marianne K., Sathya Moorthy, Mohana Prasad, Tuff, Jeffrey F., Kim, Eun-Young, Walter, Miriam, Simons, Lacy M., Bashirova, Arman, Buchbinder, Susan, Carrington, Mary, Cossarizza, Andrea, De Luca, Andrea, Goedert, James J., Goldstein, David B., Haas, David W., Herbeck, Joshua T., Johnson, Eric O., Kaleebu, Pontiano, Kilembe, William, Kirk, Gregory D., Kootstra, Neeltje A., Kral, Alex H., Lambotte, Olivier, Luo, Ma, Mallal, Simon, Martinez-Picado, Javier, Meyer, Laurence, Miro, José M., Moodley, Pravi, Motala, Ayesha A., Mullins, James I., Nam, Kireem, Obel, Niels, Pirie, Fraser, Plummer, Francis A., Poli, Guido, Price, Matthew A., Rauch, Andri, Theodorou, Ioannis, Trkola, Alexandra, Walker, Bruce D., Winkler, Cheryl A., Zagury, Jean-François, Montgomery, Stephen B., Ciuffi, Angela, Hultquist, Judd F., Wolinsky, Steven M., Dougan, Gordon, Lever, Andrew M. L., Gurdasani, Deepti, Groom, Harriet, Sandhu, Manjinder S., and Fellay, Jacques

Published
2023
Full Text
View/download PDF

8. Association of COVID-19 Versus COVID-19 Vaccination With Kidney Function and Disease Activity in Primary Glomerular Disease: A Report of the Cure Glomerulonephropathy Study

Author

Ahn, Wooin, Appel, Gerald, Appelbaum, Paul, Babayev, Revekka, Chan, Brenda, D’Agati, Vivette Denise, Dogra, Samitri, Fernandez, Hilda, Gharavi, Ali, Hines, William, Husain, Syed Ali, Jain, Namrata, Kiryluk, Krzysztof, Lin, Fangming, Marasa, Maddalena, Markowitz, Glen, Rasouly, Hila Milo, Mohan, Sumit, Mongera, Nicola, Nestor, Jordan, Nickolas, Thomas, Radhakrishnan, Jai, Rao, Maya, Sanna-Cherchi, Simone, Shirazian, Shayan, Stokes, Michael Barry, Uy, Natalie, Valeri, Anthony, Vena, Natalie, Foroncewicz, Bartosz, Moszczuk, Barbara, Mucha, Krzysztof, Perkowska-Ptasińska, Agnieszka, Ghiggeri, Gian Marco, Lugani, Francesca, Ambruzs, Josephine, Liapis, Helen, Baracco, Rossana, Jain, Amrish, Isa Ashoor, Aviles, Diego, Srivastava, Tarak, Ahn, Sun-Young, Devarajan, Prasad, Erkan, Elif, Claes, Donna, Stone, Hillarey, Mason, Sherene, Gbadegesin, Rasheed, Gomez-Mendez, Liliana, Yin, Hong (Julie), Cai, Yi, Jens, Goebel, Steinke, Julia, Weaver, Donald, Lane, Jerome, Cramer, Carl, Pan, Cindy, Paloian, Neil, Sreedharan, Rajasree, Selewski, David, Twombley, Katherine, Bowers, Corinna, Dreher, Mary, Kallash, Mahmoud, Mahan, John, Sharpe, Samantha, Al-Uzri, Amira, Iragorri, Sandra, Belsha, Craig, Alge, Joseph, Braun, Michael, Gomez, A.C., Wenderfer, Scott, Vasylyeva, Tetyana, Feig, Daniel, Fuentes, Gabriel Cara, Hannah, Melisha, Nester, Carla, Chishti, Aftab, Klein, Jon, Katsoufis, Chryso, Seeherunvong, Wacharee, Wong, Craig, Mathews, Nisha, Barcia, John, Swiatecka-Urban, Agnes, Bartosh, Sharon, Hunley, Tracy, Dharnidharka, Vikas, Gaut, Joseph, Laurin, Louis-Philippe, Royal, Virginie, Achanti, Anand, Budisavljevic, Milos, Self, Sally, Ghossein, Cybele, Peleg, Yonatan, Wadhwani, Shikha, Almaani, Salem, Ayoub, Isabelle, Nadasdy, Tibor, Parikh, Samir, Rovin, Brad, Chang, Anthony, Fatima, Huma, Julian, Bruce, Novak, Jan, Renfrow, Matthew, Rizk, Dana, Chen, Dhruti, Derebail, Vimal, Falk, Ronald, Gibson, Keisha, Hogan, Susan, Jain, Koyal, Jennette, J. Charles, Mottl, Amy, Poulton, Caroline, Saha, Manish Kanti, Fogo, Agnes, Sanghani, Neil, Kidd, Jason, Muthusamy, Selvaraj, Hou, Jean, Lemley, Kevin, Mika, Warren, Russo, Pierre, Denburg, Michelle, Kogon, Amy, Meyers, Kevin, Pradhan, Madhura, O’Toole, John, Sedor, John, Sethna, Christine, Vento, Suzanne, Atta, Mohamed, Bagnasco, Serena, Neu, Alicia, Sperati, John, Adler, Sharon, Dai, Tiane, Dukkipati, Ram, Fervenza, Fernando, Sethi, Sanjeev, Kaskel, Frederick, Brathwaite, Kaye, Reidy, Kimberly, Weisstuch, Joseph, Wu, Ming, Zhdanova, Olga, Heymann, Jurgen, Kopp, Jeffrey, Waldman, Meryl, Winkler, Cheryl, Krissberg, Jill, Lafayette, Richard, Fahmeedah, Kamal, Talley, Elizabeth, Hladunewich, Michelle, Parekh, Rulan, Avila-Casado, Carmen, Cattran, Daniel, Heather, Reich, Boll, Philip, Drexler, Yelena, Fornoni, Alessia, Blazius, Brooke, Hodgin, Jeffrey, Oliverio, Andrea, Hogan, Jon, Palmer, Matthew, Abromovitz, Blaise, Mortiz, Michael, Alpers, Charles, Jefferson, J. Ashley, Brown, Elizabeth, Sambandam, Kamal, Roehm, Bethany, Graff, John, Gillespie, Brenda, Kretzler, Matthias, Nast, Cynthia, Barisoni, Laura, Guay-Woodford, Lisa M., Wang, Chia-shi, Glenn, Dorey A., Helmuth, Margaret, Smith, Abigail R., Bomback, Andrew S., Canetta, Pietro A., Coppock, Gaia M., Khalid, Myda, Tuttle, Katherine R., Bou-Matar, Raed, Greenbaum, Larry A., Robinson, Bruce M., Holzman, Lawrence B., Smoyer, William E., Rheault, Michelle N., Gipson, Debbie, and Mariani, Laura H.

Published
2024
Full Text
View/download PDF

9. The Significance of Hematuria in Podocytopathies

Author

Marchel, Dorota, Trachtman, Howard, Larkina, Maria, Helmuth, Margaret, Lai Yee, Jennifer Y., Fermin, Damian, Bomback, Andrew S., Canetta, Pietro A., Gipson, Debbie S., Mottl, Amy K., Parekh, Rulan S., Saha, Manish K., Sampson, Matthew G., Lafayette, Richard A., Mariani, Laura H., Massengill, S., Lo, L., Dell, K., Sedor, J., Martin, B., Lemley, K., Fajardo, C., Sharma, S., Srivastava, T., Markus, K., Sethna, C., Vento, S., Canetta, P., Pradhan, A., Gbadegesin, R., Olabisi, O., Smith, M., Greenbaum, L., Wang, C.S., Yun, E., Adler, S., LaPage, J., Amarah, A., Itteera, M., Atkinson, M., Williams, M., Fervenza, F., Hogan, M., Lieske, J., Selewski, D., Alston, C., Kaskel, F., Ross, M., Flynn, P., Kopp, J., Malaga-Dieguez, L., Zhdanova, O., Pehrson, L.J., Almaani, S., Roberts, L., Lafayette, R., Dave, S., Lee, I., Pfeffer, Z., Shah, S., Deslandes, A., Reich, H., Hladunewich, M., Ling, P., Romano, M., Brakeman, P, Podoll, A., Rogers, N., McCarthy, E., Landry, E., Fornoni, A., Bidot, C., Kretzler, M., Gipson, D., Williams, A., Stelzer, M., Nachman, P., Rheault, M., Rao, V., Derebail, V., Gibson, K., Froment, A., Ochoa-Toro, F., Holzman, L., Meyers, K., Kallem, K., Swenson, A., Sharma, K., Sambandam, K., Robles, E., Turk, M., Jefferson, A., Hingorani, S., Tuttle, K., Manahan, L., Pao, E., Kuykendall K, K., Lin, J.J., Cody, E., Kretzler, M., Barisoni, L., Gadegbeku, C., Gillespie, B., Gipson, D., Holzman, L., Mariani, L., Sampson, M.G., Sedor, J., Smith, A., Zee, J., Alter, G., Desmond, H., Eddy, S., Fermin, D., Ju, W., Larkina, M., Li, S., Lienczewski, C.C., Mainieri, T., Scherr, R., Troost, J., Williams, A., Wang, Y., Avila-Casado, Carmen, Bagnasco, Serena, Cassol, Clarissa, Bu, Lihong, Caltharp, Shelley, Demeke, Dawit, Gillespie, Brenda, Hassler, Jared, Herlitz, Leal, Hewitt, Stephen, Hodgin, Jeff, Holanda, Danni, Kambham, Neeraja, Lemley, Kevin, Mariani, Laura, Messias, Nidia, Mikhailov, Alexei, Najafian, Behzad, Palmer, Matthew, Rosenberg, Avi, Royal, Virginie, Stokes, Barry, Thomas, David, Yamashita, Michifumi, Yin, Hong, Zee, Jarcy, Zuo, Yiqin, Barisoni, Laura, Nast, Cynthia, Ahn, Wooin, Appel, Gerald, Appelbaum, Paul, Babayev, Revekka, Bomback, Andrew, Canetta, Pietro, Chan, Brenda, DʼAgati, Vivette Denise, Dogra, Samitri, Fernandez, Hilda, Gharavi, Ali, Hines, William, Husain, Syed Ali, Jain, Namrata, Kiryluk, Krzysztof, Lin, Fangming, Marasa, Maddalena, Markowitz, Glen, Rasouly, Hila Milo, Mohan, Sumit, Mongera, Nicola, Nestor, Jordan, Nickolas, Thomas, Radhakrishnan, Jai, Rao, Maya, Sanna-Cherchi, Simone, Shirazian, Shayan, Stokes, Michael Barry, Uy, Natalie, Valeri, Anthony, Vena, Natalie, Foroncewicz, Bartosz, Moszczuk, Barbara, Mucha, Krzysztof, Perkowska-Ptasińska, Agnieszka, Ghiggeri, Gian Marco, Lugani, Francesca, Ambruzs, Josephine, Liapis, Helen, Baracco, Rossana, Jain, Amrish, Ashoor, Isa, Aviles, Diego, Srivastava, Tarak, Ahn, Sun-Young, Devarajan, Prasad, Erkan, Elif, Claes, Donna, Stone, Hillarey, Mason, Sherene, Gbadegesin, Rasheed, Gomez-Mendez, Liliana, Greenbaum, Larry, Wang, Chia-shi, Yin, Hong (Julie), Cai, Yi, Jens, Goebel, Steinke, Julia, Weaver, Donald, Lane, Jerome, Cramer, Carl, Pan, Cindy, Paloian, Neil, Sreedharan, Rajasree, Selewski, David, Twombley, Katherine, Bowers, Corinna, Dreher, Mary, Kallash, Mahmoud, Mahan, John, Sharpe, Samantha, Smoyer, William, Al-Uzri, Amira, Iragorri, Sandra, Khalid, Myda, Belsha, Craig, Alge, Joseph, Braun, Michael, Gomez, AC, Wenderfer, Scott, Vasylyeva, Tetyana, Feig, Daniel, Fuentes, Gabriel Cara, Hannah, Melisha, Nester, Carla, Chishti, Aftab, Klein, Jon, Katsoufis, Chryso, Seeherunvong, Wacharee, Rheault, Michelle, Wong, Craig, Mathews, Nisha, Barcia, John, Swiatecka-Urban, Agnes, Bartosh, Sharon, Hunley, Tracy, Dharnidharka, Vikas, Gaut, Joseph, Laurin, Louis-Philippe, Royal, Virginie, Achanti, Anand, Budisavljevic, Milos, Self, Sally, Ghossein, Cybele, Peleg, Yonatan, Wadhwani, Shikha, Almaani, Salem, Ayoub, Isabelle, Nadasdy, Tibor, Samir, Parikh, Rovin, Brad, Chang, Anthony, Fatima, Huma, Julian, Bruce, Novak, Jan, Renfrow, Matthew, Rizk, Dana, Chen, Dhruti, Derebail, Vimal, Falk, Ronald, Gibson, Keisha, Glenn, Dorey, Hogan, Susan, Jain, Koyal, Jennette, J. Charles, Mottl, Amy, Poulton, Caroline, Saha, Manish Kanti, Fogo, Agnes, Sanghani, Neil, Kidd, Jason, Muthusamy, Selvaraj, Schelling, Jeffrey, Hou, Jean, Lemley, Kevin, Mika, Warren, Russo, Pierre, Denburg, Michelle, Kogon, Amy, Meyers, Kevin, Pradhan, Madhura, Matar, Raed Bou, OʼToole, John, Sedor, John, Sethna, Christine, Vento, Suzanne, Atta, Mohamed, Bagnasco, Serena, Neu, Alicia, Sperati, John, Adler, Sharon, Dai, Tiane, Dukkipati, Ram, Fervenza, Fernando, Sethi, Sanjeev, Kaskel, Frederick, Brathwaite, Kaye, Reidy, Kimberly, Weisstuch, Joseph, Wu, Ming, Zhdanova, Olga, Heymann, Jurgen, Kopp, Jeffrey, Waldman, Meryl, Winkler, Cheryl, Tuttle, Katherine, Krissberg, Jill, Lafayette, Richard, Fahmeedah, Kamal, Talley, Elizabeth, Hladunewich, Michelle, Parekh, Rulan, Avila-Casado, Carmen, Cattran, Daniel, Heather, Reich, Boll, Philip, Drexler, Yelena, Fornoni, Alessia, Gipson, Patrick, Hodgin, Jeffrey, Oliverio, Andrea, Hogan, Jon, Holzman, Lawrence, Palmer, Matthew, Coppock, Gaia, Abromovitz, Blaise, Mortiz, Michael, Alpers, Charles, Jefferson, J. Ashley, Brown, Elizabeth, Sambandam, Kamal, Roehm, Bethany, Smith, Abigail, Nast, Cynthia, Barisoni, Laura, Gillespie, Brenda, Robinson, Bruce, Kretzler, Matthias, Mariani, Laura, and Guay-Woodford, Lisa M.

Published
2024
Full Text
View/download PDF

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

Author

Booth, John, Waters, Anele, Hand, James, Clarke, Chris, Murphy, Sarah, Murphy, Maurice, Campbell, Marion, Clarke, Amanda, 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, Hilton, Rachel, Fox, Julie, Rabuya, May, Hamzah, Lisa, 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, Post, Frank, Santana-Suarez, Beatriz, McQueen, Leigh, Bhagwandin, Priya, Campbell, Lucy, 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, Bramham, Kate, Minton, Jane, Lamont, Gary, Cross, Ruby, Saiyad, Gaushiya, Ahmed, Shadia, Ashworth, Rebecca, Window, Nicola, Murira, J., Phyu, Khine, Ustianowski, Andrew, Lindergard, Gabriella, Shaw, Jonathan, Holland, Sarah, Fox, Claire, Flaherty, Jan, Bevan, Margaret-Anne, George, Valerie, Chadwick, David, Branch, Marie, Lambert, Pauline, Craggs, Adele, Pett, Sarah, Lukha, Hinal, Vora, Nina, Fiorino, Marzia, Nunez, Maria Muller, Sally, Deirdre, Burns, James E., Pool, Erica, Matthews, Rebecca, Price, David Ashley, 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, Winkler, Cheryl, Binns-Roemer, Elizabeth, David, Victor, Ainsworth, Jonathan, Vincent, Rachel, Kegg, Stephen, Saad, Chloe, Skinner, Sarah, Azzoug, Hocine, Russell, Judith, Moussaoui, Tarik, Mabonga, Emily, Ward, Donna, Francoise, J., Larbi, W., Mitchell, Sue, Manning, A., Russell, V., Burns, Fiona, 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, Cosgrove, Catherine, 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, Sabin, Caroline, Hill, Teresa, Hung, Rachel K.Y., Booth, John W., Price, David A., Sabin, Caroline A., Winkler, Cheryl A., and Post, Frank A.

Published
2022
Full Text
View/download PDF

11. Sickle Cell Trait and Kidney Disease in People of African Ancestry With HIV

Author

Booth, John, Waters, Anele, Hand, James, Clarke, Chris, Murphy, Sarah, Murphy, Maurice, Campbell, Marion, Clarke, Amanda, 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, Hilton, Rachel, Fox, Julie, Rabuya, May, Hamzah, Lisa, 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, Post, Frank, Santana-Suarez, Beatriz, McQueen, Leigh, Bhagwandin, Priya, Campbell, Lucy, 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, Bramham, Kate, Minton, Jane, Lamont, Gary, Cross, Ruby, Saiyad, Gaushiya, Ahmed, Shadia, Ashworth, Rebecca, Window, Nicola, Murira, J., Phyu, Khine, Ustianowski, Andrew, Lindergard, Gabriella, Shaw, Jonathan, Holland, Sarah, Fox, Claire, Flaherty, Jan, Bevan, Margaret-Anne, George, Valerie, Chadwick, David, Branch, Marie, Lambert, Pauline, Craggs, Adele, Pett, Sarah, Lukha, Hinal, Vora, Nina, Fiorino, Marzia, Nunez, Maria Muller, Sally, Deirdre, Burns, James E., Pool, Erica, Matthews, Rebecca, Price, David Ashley, 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, Winkler, Cheryl, Binns-Roemer, Elizabeth, David, Victor, Ainsworth, Jonathan, Vincent, Rachel, Kegg, Stephen, Saad, Chloe, Skinner, Sarah, Azzoug, Hocine, Russell, Judith, Moussaoui, Tarik, Mabonga, Emily, Ward, Donna, Francoise, J., Larbi, W., Mitchell, Sue, Manning, A., Russell, V., Burns, Fiona, 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, Cosgrove, Catherine, 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, Sabin, Caroline, Hill, Teresa, Hung, Rachel K.Y., Booth, John W., Price, David A., Sharpe, Claire C., Sabin, Caroline A., Winkler, Cheryl A., and Post, Frank A.

Published
2022
Full Text
View/download PDF

12. Living kidney donors with HIV: experience and outcomes from a case series by the HOPE in Action Consortium

Author

Agrawal, Neerja, Pereira, Marcus, Ranganna, Karthik, Wolfe, Cameron, Friedman-Moraco, Rachel, Kitchens, William, Adebiyi, Oluwafisayo, Kubal, Chandrashekhar, Cameron, Andrew, Desai, Niraj, Durand, Christine, Ottmann, Shane, Elias, Nahel, Gilbert, Alexander, Smith, Coleman, Castillo-Lugo, Jose A., Florman, Sander, Segev, Dorry L., Massie, Allan, Mehta, Sapna, Stosor, Valentina, Hand, Jonathan, Blumberg, Emily, Santos, Carlos A.Q., Goldberg, Ryan, Mehta, Shikha, Cannon, Robert, Giorgakis, Emmanouil, Schaenman, Joanna, Aslam, Saima, Stock, Peter, Price, Jennifer, Apewokin, Senu, Benamu, Esther, Spaggiari, Mario, Baddley, John, Morris, Michele I., Simkins, Jacques, Pruett, Timothy, Haidar, Ghady, Wojciechowski, David, Agarwal, Avinash, Balaraman, Vasanthi, Gupta, Gaurav, Chapman, Will, Muthukumar, Thangamani, Small, Catherine B., Malinis, Maricar, Durand, Christine M., Martinez, Nina, Neumann, Karl, Benedict, Reed C., Baker, Arthur W., Wolfe, Cameron R., Shetty, Aneesha, Dietch, Zachary C., Goudy, Leah, Callegari, Michelle A., Massie, Allan B., Brown, Diane, Cochran, Willa, Muzaale, Abimereki, Fine, Derek, Tobian, Aaron A.R., Winkler, Cheryl A., and Al Ammary, Fawaz

Published
2023
Full Text
View/download PDF

13. APOL1 Nephropathy Risk Alleles and Mortality in African American Adults: A Cohort Study

Author

Gutiérrez, Orlando M, Irvin, Marguerite R, Zakai, Neil A, Naik, Rakhi P, Chaudhary, Ninad S, Estrella, Michelle M, Limou, Sophie, Judd, Suzanne E, Cushman, Mary, Kopp, Jeffrey B, and Winkler, Cheryl A

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Kidney Disease, Genetics, Clinical Research, Prevention, Renal and urogenital, Good Health and Well Being, Black or African American, Aged, Alleles, Apolipoprotein L1, Cause of Death, Female, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Mortality, Proportional Hazards Models, Renal Insufficiency, Chronic, APOL1 genotype, African American, CKD progression, chronic kidney disease, genetic differences, genetic risk factor, mortality, nephropathy, racial/ethnic disparities, risk allele, survival, Public Health and Health Services, Urology & Nephrology, Clinical sciences
Abstract

Rationale & objectiveAPOL1 nephropathy risk alleles are associated with the development of chronic kidney disease (CKD) in African Americans. Although CKD is an established risk factor for mortality, associations of APOL1 risk alleles with mortality are uncertain.Study designProspective cohort.Settings & participants10,380 African American and 17,485 white American participants in the Reasons for Geographic and Racial Differences in Stroke (REGARDS) Study.ExposuresAPOL1 nephropathy risk alleles.OutcomesAll-cause and cause-specific mortality.Analytical approachCox proportional hazards models were used to examine the association of APOL1 high-risk genotypes (2 risk alleles) versus APOL1 low-risk genotypes (0/1 risk allele) with all-cause and cause-specific mortality in African Americans and examine the risk for all-cause mortality in African Americans with high-risk genotypes versus African Americans with low-risk genotypes and white Americans.ResultsAPOL1 high-risk participants were younger and had a higher prevalence of albuminuria than low-risk participants. There was no statistically significant association of APOL1 high- versus low-risk genotypes with all-cause mortality in models adjusted for sociodemographic variables, comorbid conditions, and kidney function (HR, 0.88; 95% CI, 0.77-1.01). After further adjustment for genetic ancestry in a subset with available data, a statistically significant association emerged (HR, 0.81; 95% CI, 0.69-0.96). Associations differed by CKD status (Pinteraction=0.04), with African Americans with high-risk genotypes having lower risk for mortality than those with low-risk genotypes in fully adjusted models (HR, 0.78; 95% CI, 0.62-0.99) among those with CKD, but not those without CKD (HR, 0.84; 95% CI, 0.66-1.05). Compared with white Americans, African Americans with high-risk genotypes had a similar rate of mortality, whereas African Americans with low-risk genotypes had a higher rate of mortality (HR, 1.07; 95% CI, 1.00-1.14) in fully adjusted models.LimitationsLack of follow-up measures of kidney function.ConclusionsAfrican Americans with high-risk APOL1 genotypes had lower mortality than those with low-risk genotypes in multivariable-adjusted models including genetic ancestry.

Published
2020

15. Racial and Ethnic Disparities in Acute Care Utilization Among Patients With Glomerular Disease

Author

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

Published
2023
Full Text
View/download PDF

19. Author Correction: Africa-specific human genetic variation near CHD1L associates with HIV-1 load

Author

McLaren, Paul J., Porreca, Immacolata, Iaconis, Gennaro, Mok, Hoi Ping, Mukhopadhyay, Subhankar, Karakoc, Emre, Cristinelli, Sara, Pomilla, Cristina, Bartha, István, Thorball, Christian W., Tough, Riley H., Angelino, Paolo, Kiar, Cher S., Carstensen, Tommy, Fatumo, Segun, Porter, Tarryn, Jarvis, Isobel, Skarnes, William C., Bassett, Andrew, DeGorter, Marianne K., Sathya Moorthy, Mohana Prasad, Tuff, Jeffrey F., Kim, Eun-Young, Walter, Miriam, Simons, Lacy M., Bashirova, Arman, Buchbinder, Susan, Carrington, Mary, Cossarizza, Andrea, De Luca, Andrea, Goedert, James J., Goldstein, David B., Haas, David W., Herbeck, Joshua T., Johnson, Eric O., Kaleebu, Pontiano, Kilembe, William, Kirk, Gregory D., Kootstra, Neeltje A., Kral, Alex H., Lambotte, Olivier, Luo, Ma, Mallal, Simon, Martinez-Picado, Javier, Meyer, Laurence, Miro, José M., Moodley, Pravi, Motala, Ayesha A., Mullins, James I., Nam, Kireem, Obel, Niels, Pirie, Fraser, Plummer, Francis A., Poli, Guido, Price, Matthew A., Rauch, Andri, Theodorou, Ioannis, Trkola, Alexandra, Walker, Bruce D., Winkler, Cheryl A., Zagury, Jean-François, Montgomery, Stephen B., Ciuffi, Angela, Hultquist, Judd F., Wolinsky, Steven M., Dougan, Gordon, Lever, Andrew M. L., Gurdasani, Deepti, Groom, Harriet, Sandhu, Manjinder S., and Fellay, Jacques

Published
2023
Full Text
View/download PDF

20. Genetic analyses of diverse populations improves discovery for complex traits.

Author

Wojcik, Genevieve L, Graff, Mariaelisa, Nishimura, Katherine K, Tao, Ran, Haessler, Jeffrey, Gignoux, Christopher R, Highland, Heather M, Patel, Yesha M, Sorokin, Elena P, Avery, Christy L, Belbin, Gillian M, Bien, Stephanie A, Cheng, Iona, Cullina, Sinead, Hodonsky, Chani J, Hu, Yao, Huckins, Laura M, Jeff, Janina, Justice, Anne E, Kocarnik, Jonathan M, Lim, Unhee, Lin, Bridget M, Lu, Yingchang, Nelson, Sarah C, Park, Sung-Shim L, Poisner, Hannah, Preuss, Michael H, Richard, Melissa A, Schurmann, Claudia, Setiawan, Veronica W, Sockell, Alexandra, Vahi, Karan, Verbanck, Marie, Vishnu, Abhishek, Walker, Ryan W, Young, Kristin L, Zubair, Niha, Acuña-Alonso, Victor, Ambite, Jose Luis, Barnes, Kathleen C, Boerwinkle, Eric, Bottinger, Erwin P, Bustamante, Carlos D, Caberto, Christian, Canizales-Quinteros, Samuel, Conomos, Matthew P, Deelman, Ewa, Do, Ron, Doheny, Kimberly, Fernández-Rhodes, Lindsay, Fornage, Myriam, Hailu, Benyam, Heiss, Gerardo, Henn, Brenna M, Hindorff, Lucia A, Jackson, Rebecca D, Laurie, Cecelia A, Laurie, Cathy C, Li, Yuqing, Lin, Dan-Yu, Moreno-Estrada, Andres, Nadkarni, Girish, Norman, Paul J, Pooler, Loreall C, Reiner, Alexander P, Romm, Jane, Sabatti, Chiara, Sandoval, Karla, Sheng, Xin, Stahl, Eli A, Stram, Daniel O, Thornton, Timothy A, Wassel, Christina L, Wilkens, Lynne R, Winkler, Cheryl A, Yoneyama, Sachi, Buyske, Steven, Haiman, Christopher A, Kooperberg, Charles, Le Marchand, Loic, Loos, Ruth JF, Matise, Tara C, North, Kari E, Peters, Ulrike, Kenny, Eimear E, and Carlson, Christopher S

Subjects
Humans, Body Height, Cohort Studies, Genetics, Medical, Multifactorial Inheritance, Minority Groups, African Continental Ancestry Group, Asian Continental Ancestry Group, Hispanic Americans, Women's Health, United States, Female, Male, Health Status Disparities, Genome-Wide Association Study, Health Equity, Genetics, Medical, General Science & Technology
Abstract

Genome-wide association studies (GWAS) have laid the foundation for investigations into the biology of complex traits, drug development and clinical guidelines. However, the majority of discovery efforts are based on data from populations of European ancestry1-3. In light of the differential genetic architecture that is known to exist between populations, bias in representation can exacerbate existing disease and healthcare disparities. Critical variants may be missed if they have a low frequency or are completely absent in European populations, especially as the field shifts its attention towards rare variants, which are more likely to be population-specific4-10. Additionally, effect sizes and their derived risk prediction scores derived in one population may not accurately extrapolate to other populations11,12. Here we demonstrate the value of diverse, multi-ethnic participants in large-scale genomic studies. The Population Architecture using Genomics and Epidemiology (PAGE) study conducted a GWAS of 26 clinical and behavioural phenotypes in 49,839 non-European individuals. Using strategies tailored for analysis of multi-ethnic and admixed populations, we describe a framework for analysing diverse populations, identify 27 novel loci and 38 secondary signals at known loci, as well as replicate 1,444 GWAS catalogue associations across these traits. Our data show evidence of effect-size heterogeneity across ancestries for published GWAS associations, substantial benefits for fine-mapping using diverse cohorts and insights into clinical implications. In the United States-where minority populations have a disproportionately higher burden of chronic conditions13-the lack of representation of diverse populations in genetic research will result in inequitable access to precision medicine for those with the highest burden of disease. We strongly advocate for continued, large genome-wide efforts in diverse populations to maximize genetic discovery and reduce health disparities.

Published
2019

21. A genome-wide association and admixture mapping study of bronchodilator drug response in African Americans with asthma

Author

Spear, Melissa L, Hu, Donglei, Pino-Yanes, Maria, Huntsman, Scott, Eng, Celeste, Levin, Albert M, Ortega, Victor E, White, Marquitta J, McGarry, Meghan E, Thakur, Neeta, Galanter, Joshua, Mak, Angel CY, Oh, Sam S, Ampleford, Elizabeth, Peters, Stephen P, Davis, Adam, Kumar, Rajesh, Farber, Harold J, Meade, Kelley, Avila, Pedro C, Serebrisky, Denise, Lenoir, Michael A, Brigino-Buenaventura, Emerita, Cintron, William Rodriguez, Thyne, Shannon M, Rodriguez-Santana, Jose R, Ford, Jean G, Chapela, Rocio, Estrada, Andrés Moreno, Sandoval, Karla, Seibold, Max A, Winkler, Cheryl A, Bleecker, Eugene R, Myers, Deborah A, Williams, L Keoki, Hernandez, Ryan D, Torgerson, Dara G, and Burchard, Esteban G

Subjects
Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Lung, Genetics, Asthma, Human Genome, Respiratory, Pharmacology & Pharmacy, Pharmacology and pharmaceutical sciences
Abstract

Short-acting β2-adrenergic receptor agonists (SABAs) are the most commonly prescribed asthma medications worldwide. Response to SABAs is measured as bronchodilator drug response (BDR), which varies among racial/ethnic groups in the United States. However, the genetic variation that contributes to BDR is largely undefined in African Americans with asthma. To identify genetic variants that may contribute to differences in BDR in African Americans with asthma, we performed a genome-wide association study (GWAS) of BDR in 949 African-American children with asthma, genotyped with the Axiom World Array 4 (Affymetrix, Santa Clara, CA) followed by imputation using 1000 Genomes phase III genotypes. We used linear regression models adjusting for age, sex, body mass index (BMI) and genetic ancestry to test for an association between BDR and genotype at single-nucleotide polymorphisms (SNPs). To increase power and distinguish between shared vs. population-specific associations with BDR in children with asthma, we performed a meta-analysis across 949 African Americans and 1830 Latinos (total = 2779). Finally, we performed genome-wide admixture mapping to identify regions whereby local African or European ancestry is associated with BDR in African Americans. We identified a population-specific association with an intergenic SNP on chromosome 9q21 that was significantly associated with BDR (rs73650726, p = 7.69 × 10-9). A trans-ethnic meta-analysis across African Americans and Latinos identified three additional SNPs within the intron of PRKG1 that were significantly associated with BDR (rs7903366, rs7070958 and rs7081864, p ≤ 5 × 10-8). Our results failed to replicate in three additional populations of 416 Latinos and 1615 African Americans. Our findings indicate that both population-specific and shared genetic variation contributes to differences in BDR in minority children with asthma, and that the genetic underpinnings of BDR may differ between racial/ethnic groups.

Published
2019

22. An admixture mapping meta-analysis implicates genetic variation at 18q21 with asthma susceptibility in Latinos

Author

Gignoux, Christopher R, Torgerson, Dara G, Pino-Yanes, Maria, Uricchio, Lawrence H, Galanter, Joshua, Roth, Lindsey A, Eng, Celeste, Hu, Donglei, Nguyen, Elizabeth A, Huntsman, Scott, Mathias, Rasika A, Kumar, Rajesh, Rodriguez-Santana, Jose, Thakur, Neeta, Oh, Sam S, McGarry, Meghan, Moreno-Estrada, Andres, Sandoval, Karla, Winkler, Cheryl A, Seibold, Max A, Padhukasahasram, Badri, Conti, David V, Farber, Harold J, Avila, Pedro, Brigino-Buenaventura, Emerita, Lenoir, Michael, Meade, Kelley, Serebrisky, Denise, Borrell, Luisa N, Rodriguez-Cintron, William, Thyne, Shannon, Joubert, Bonnie R, Romieu, Isabelle, Levin, Albert M, Sienra-Monge, Juan-Jose, Del Rio-Navarro, Blanca Estela, Gan, Weiniu, Raby, Benjamin A, Weiss, Scott T, Bleecker, Eugene, Meyers, Deborah A, Martinez, Fernando J, Gauderman, W James, Gilliland, Frank, London, Stephanie J, Bustamante, Carlos D, Nicolae, Dan L, Ober, Carole, Sen, Saunak, Barnes, Kathleen, Williams, L Keoki, Hernandez, Ryan D, and Burchard, Esteban G

Subjects
Biomedical and Clinical Sciences, Immunology, Human Genome, Clinical Research, Lung, Asthma, Genetics, Aetiology, 2.1 Biological and endogenous factors, Respiratory, Chromosome Mapping, Chromosomes, Human, Pair 18, Genetic Predisposition to Disease, Hispanic or Latino, Humans, Polymorphism, Single Nucleotide, Smad2 Protein, asthma exacerbations, admixture mapping, meta-analysis, Latinos, SMAD2, gene expression, targeted sequencing, rare variation, Allergy
Abstract

BackgroundAsthma is a common but complex disease with racial/ethnic differences in prevalence, morbidity, and response to therapies.ObjectiveWe sought to perform an analysis of genetic ancestry to identify new loci that contribute to asthma susceptibility.MethodsWe leveraged the mixed ancestry of 3902 Latinos and performed an admixture mapping meta-analysis for asthma susceptibility. We replicated associations in an independent study of 3774 Latinos, performed targeted sequencing for fine mapping, and tested for disease correlations with gene expression in the whole blood of more than 500 subjects from 3 racial/ethnic groups.ResultsWe identified a genome-wide significant admixture mapping peak at 18q21 in Latinos (P = 6.8 × 10-6), where Native American ancestry was associated with increased risk of asthma (odds ratio [OR], 1.20; 95% CI, 1.07-1.34; P = .002) and European ancestry was associated with protection (OR, 0.86; 95% CI, 0.77-0.96; P = .008). Our findings were replicated in an independent childhood asthma study in Latinos (P = 5.3 × 10-3, combined P = 2.6 × 10-7). Fine mapping of 18q21 in 1978 Latinos identified a significant association with multiple variants 5' of SMAD family member 2 (SMAD2) in Mexicans, whereas a single rare variant in the same window was the top association in Puerto Ricans. Low versus high SMAD2 blood expression was correlated with case status (13.4% lower expression; OR, 3.93; 95% CI, 2.12-7.28; P

Published
2019

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

Author

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
Full Text
View/download PDF

28. NAD deficiency contributes to progressive kidney disease in HIV-nephropathy mice.

Author

Yoshida, Teruhiko, Myakala, Komuraiah, Jones, Bryce A., Wang, Xiaoxin X., Shrivastav, Shashi, Santo, Briana A., Patel, Tatsat R., Zhao, Yongmei, Tutino, Vincent M., Sarder, Pinaki, Rosenberg, Avi Z., Winkler, Cheryl A., Levi, Moshe, and Kopp, Jeffrey B.

Subjects
FARNESOID X receptor, TRANSGENIC mice, NICOTINAMIDE, OXIDATIVE phosphorylation, METABOLOMICS
Abstract

HIV disease remains prevalent in the United States and is particularly prevalent in sub-Saharan Africa. Recent investigations revealed that mitochondrial dysfunction in kidney contributes to HIV-associated nephropathy (HIVAN) in Tg26 transgenic mice. We hypothesized that nicotinamide adenine dinucleotide (NAD) deficiency contributes to energetic dysfunction and progressive tubular injury. We investigated metabolomic mechanisms of HIVAN tubulopathy. Tg26 and wild-type (WT) mice were treated with the farnesoid X receptor (FXR) agonist INT-747 or nicotinamide riboside (NR) from 6 to 12 wk of age. Multiomic approaches were used to characterize kidney tissue transcriptomes and metabolomes. Treatment with INT-747 or NR ameliorated kidney tubular injury, as shown by serum creatinine, the tubular injury marker urinary neutrophil-associated lipocalin, and tubular morphometry. Integrated analysis of metabolomic and transcriptomic measurements showed that NAD levels and production were globally downregulated in Tg26 mouse kidneys, especially nicotinamide phosphoribosyltransferase (NAMPT), the rate-limiting enzyme in the NAD salvage pathway. Furthermore, NAD-dependent deacetylase sirtuin3 activity and mitochondrial oxidative phosphorylation activity were lower in ex vivo proximal tubules from Tg26 mouse kidneys compared with those of WT mice. Restoration of NAD levels in the kidney improved these abnormalities. These data suggest that NAD deficiency might be a treatable target for HIVAN. NEW & NOTEWORTHY: The study describes a novel investigation that identified nicotinamide adenine dinucleotide (NAD) deficiency in a widely used HIV-associated nephropathy (HIVAN) transgenic mouse model. We show that INT-747, a farnesoid X receptor agonist, and nicotinamide riboside (NR), a precursor of nicotinamide, each ameliorated HIVAN tubulopathy. Multiomic analysis of mouse kidneys revealed that NAD deficiency was an upstream metabolomic mechanism contributing to HIVAN tubulopathy. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

29. Urine Single-Cell RNA Sequencing in Focal Segmental Glomerulosclerosis Reveals Inflammatory Signatures

Author

Latt, Khun Zaw, Heymann, Jurgen, Jessee, Joseph H., Rosenberg, Avi Z., Berthier, Celine C., Arazi, Arnon, Eddy, Sean, Yoshida, Teruhiko, Zhao, Yongmei, Chen, Vicky, Nelson, George W., Cam, Margaret, Kumar, Parimal, Mehta, Monika, Kelly, Michael C., Kretzler, Matthias, Ray, Patricio E., Moxey-Mims, Marva, Gorman, Gregory H., Lechner, Brent L., Regunathan-Shenk, Renu, Raj, Dominic S., Susztak, Katalin, Winkler, Cheryl A., and Kopp, Jeffrey B.

Published
2022
Full Text
View/download PDF

31. Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma

Author

Mak, Angel CY, White, Marquitta J, Eckalbar, Walter L, Szpiech, Zachary A, Oh, Sam S, Pino-Yanes, Maria, Hu, Donglei, Goddard, Pagé, Huntsman, Scott, Galanter, Joshua, Wu, Ann Chen, Himes, Blanca E, Germer, Soren, Vogel, Julia M, Bunting, Karen L, Eng, Celeste, Salazar, Sandra, Keys, Kevin L, Liberto, Jennifer, Nuckton, Thomas J, Nguyen, Thomas A, Torgerson, Dara G, Kwok, Pui-Yan, Levin, Albert M, Celedón, Juan C, Forno, Erick, Hakonarson, Hakon, Sleiman, Patrick M, Dahlin, Amber, Tantisira, Kelan G, Weiss, Scott T, Serebrisky, Denise, Brigino-Buenaventura, Emerita, Farber, Harold J, Meade, Kelley, Lenoir, Michael A, Avila, Pedro C, Sen, Saunak, Thyne, Shannon M, Rodriguez-Cintron, William, Winkler, Cheryl A, Moreno-Estrada, Andrés, Sandoval, Karla, Rodriguez-Santana, Jose R, Kumar, Rajesh, Williams, L Keoki, Ahituv, Nadav, Ziv, Elad, Seibold, Max A, Darnell, Robert B, Zaitlen, Noah, Hernandez, Ryan D, and Burchard, Esteban G

Subjects
Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Health Disparities, Precision Medicine, Lung, Genetics, Asthma, Human Genome, Pediatric, Minority Health, Biotechnology, 2.1 Biological and endogenous factors, Respiratory, Good Health and Well Being, Adolescent, Black or African American, Albuterol, Bronchodilator Agents, Child, Female, Genome-Wide Association Study, Hispanic or Latino, Humans, Male, Mexican Americans, Pharmacogenomic Variants, Polymorphism, Single Nucleotide, Race Factors, United States, albuterol, asthma, minority, NFKB1, Latinos, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Medical and Health Sciences, Respiratory System, Cardiovascular medicine and haematology, Clinical sciences
Abstract

RationaleAlbuterol, a bronchodilator medication, is the first-line therapy for asthma worldwide. There are significant racial/ethnic differences in albuterol drug response.ObjectivesTo identify genetic variants important for bronchodilator drug response (BDR) in racially diverse children.MethodsWe performed the first whole-genome sequencing pharmacogenetics study from 1,441 children with asthma from the tails of the BDR distribution to identify genetic association with BDR.Measurements and main resultsWe identified population-specific and shared genetic variants associated with BDR, including genome-wide significant (P

Published
2018

32. Kidney disease in the setting of HIV infection: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Author

Swanepoel, Charles R, Atta, Mohamed G, D’Agati, Vivette D, Estrella, Michelle M, Fogo, Agnes B, Naicker, Saraladevi, Post, Frank A, Wearne, Nicola, Winkler, Cheryl A, Cheung, Michael, Wheeler, David C, Winkelmayer, Wolfgang C, Wyatt, Christina M, Participants, Conference, Abu-Alfa, Ali, Adu, Dwomoa, Agodoa, Lawrence Y, Alpers, Charles E, Arogundade, Fatiu A, Ashuntantang, Gloria, Bagnis, Corinne I, Bhimma, Raj, Brocheriou, Isabelle, Cohen, Arthur H, Cohen, Karen, Cook, H Terence, de Seigneux, Sophie, Fabian, June, Finkelstein, Fredric O, Haas, Mark, Hamzah, Lisa, Hendry, Bruce M, Imonje, Valentine, Jennette, J Charles, Kimmel, Paul L, Klotman, Mary E, Klotman, Paul E, Larsen, Chris P, McCulloch, Mignon I, Mosiane, Pulane, Nast, Cynthia C, Okpechi, Ikechi G, Ray, Patricio E, Rosenberg, Avi Z, Ross, Michael J, Ryom, Lene, Truong, Luan, Ulasi, Ifeoma, Vogt, Liffert, and Zeier, Martin

Subjects
HIV/AIDS, Pediatric, Kidney Disease, Prevention, Infectious Diseases, 2.1 Biological and endogenous factors, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Aetiology, Infection, Renal and urogenital, Good Health and Well Being, AIDS-Associated Nephropathy, Anti-HIV Agents, Comorbidity, Diagnosis, Differential, Evidence-Based Medicine, Genetic Predisposition to Disease, HIV, Host-Pathogen Interactions, Humans, Kidney, Nephrology, Predictive Value of Tests, Renal Insufficiency, Chronic, Risk Factors, Treatment Outcome, antiretroviral therapy, APOL1, CKD progression, immune complex kidney disease, podocytopathy, renal pathology, Conference Participants, Clinical Sciences, Urology & Nephrology
Abstract

HIV-positive individuals are at increased risk for kidney disease, including HIV-associated nephropathy, noncollapsing focal segmental glomerulosclerosis, immune-complex kidney disease, and comorbid kidney disease, as well as kidney injury resulting from prolonged exposure to antiretroviral therapy or from opportunistic infections. Clinical guidelines for kidney disease prevention and treatment in HIV-positive individuals are largely extrapolated from studies in the general population, and do not fully incorporate existing knowledge of the unique HIV-related pathways and genetic factors that contribute to the risk of kidney disease in this population. We convened an international panel of experts in nephrology, renal pathology, and infectious diseases to define the pathology of kidney disease in the setting of HIV infection; describe the role of genetics in the natural history, diagnosis, and treatment of kidney disease in HIV-positive individuals; characterize the renal risk-benefit of antiretroviral therapy for HIV treatment and prevention; and define best practices for the prevention and management of kidney disease in HIV-positive individuals.

Published
2018

33. 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
2024
Full Text
View/download PDF

35. Apolipoprotein-1 risk variants and associated kidney phenotypes in an adult HIV cohort in Nigeria

Author

Wudil, Usman J., Aliyu, Muktar H., Prigmore, Heather L., Ingles, Donna J., Ahonkhai, Aima A., Musa, Baba M., Muhammad, Hamza, Sani, Mahmoud U., Nalado, Aisha M., Abdu, Aliyu, Abdussalam, Kabiru, Shepherd, Bryan E., Dankishiya, Faisal S., Burgner, Anna M., Ikizler, T. Alp, Wyatt, Christina M., Kopp, Jeffrey B., Kimmel, Paul L., Winkler, Cheryl A., and Wester, C. William

Published
2021
Full Text
View/download PDF

36. APOL1 genetic variants are not associated with longitudinal blood pressure in young black adults

Author

Chen, Teresa K, Estrella, Michelle M, Vittinghoff, Eric, Lin, Feng, Gutierrez, Orlando M, Kramer, Holly, Lewis, Cora E, Kopp, Jeffrey B, Allen, Norrina B, Winkler, Cheryl A, Bibbins-Domingo, Kirsten B, and Peralta, Carmen A

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Hypertension, Prevention, Cardiovascular, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Adult, Female, Humans, Male, Young Adult, Alleles, Antihypertensive Agents, Apolipoprotein L1, Black or African American, Blood Pressure, Blood Pressure Determination, Follow-Up Studies, Genotyping Techniques, Longitudinal Studies, Models, Biological, Polymorphism, Genetic, Risk Assessment, Risk Factors, Self Report, Sequence Analysis, DNA, Socioeconomic Factors, White, APOL1, apolipoprotein L1, blood pressure, CARDIA, hypertension, Urology & Nephrology, Clinical sciences
Abstract

Whether APOL1 polymorphisms contribute to the excess risk of hypertension among blacks is unknown. To assess this we evaluated whether self-reported race and, in blacks, APOL1 risk variants (high-risk [2 risk alleles] versus low-risk [0-1 risk allele]) were associated with longitudinal blood pressure. Blood pressure trajectories were determined using linear mixed-effects (slope) and latent class models (5 distinct groups) during 25 years of follow-up in the Coronary Artery Risk Development in Young Adults Study. Associations of race and APOL1 genotypes with blood pressure change, separately, using linear mixed-effects and multinomial logistic regression models, adjusting for demographic, socioeconomic, and traditional hypertension risk factors, anti-hypertensive medication use, and kidney function were evaluated. Among 1700 whites and 1330 blacks (13% APOL1 high-risk, mean age 25 years; 46% male) mean mid-, ([systolic + diastolic blood pressure]/2), systolic, and diastolic blood pressures were 89, 110, and 69 mm Hg, respectively. One percent of participants used anti-hypertensive medications at baseline. Compared to whites, blacks, regardless of APOL1 genotype, had significantly greater increases in mid-blood pressure and were more likely to experience significantly increasing mid-blood pressure trajectories with adjusted relative risk ratios of 5.21 and 7.27 for moderate-increasing and elevated-increasing versus low-stable blood pressure, respectively. Among blacks, longitudinal mid-blood pressure changes and mid-blood pressure trajectory classification were similar by APOL1 risk status. Modeling systolic and diastolic blood pressure as outcomes yielded similar findings. From young adulthood to mid-life, blacks have greater blood pressure increases versus whites that are not fully explained by traditional risk factors. Thus APOL1 variants are not associated with longitudinal blood pressure in blacks.

Published
2017

37. Selecting SNPs informative for African, American Indian and European Ancestry: application to the Family Investigation of Nephropathy and Diabetes (FIND)

Author

Williams, Robert C, Elston, Robert C, Kumar, Pankaj, Knowler, William C, Abboud, Hanna E, Adler, Sharon, Bowden, Donald W, Divers, Jasmin, Freedman, Barry I, Igo, Robert P, Ipp, Eli, Iyengar, Sudha K, Kimmel, Paul L, Klag, Michael J, Kohn, Orly, Langefeld, Carl D, Leehey, David J, Nelson, Robert G, Nicholas, Susanne B, Pahl, Madeleine V, Parekh, Rulan S, Rotter, Jerome I, Schelling, Jeffrey R, Sedor, John R, Shah, Vallabh O, Smith, Michael W, Taylor, Kent D, Thameem, Farook, Thornley-Brown, Denyse, Winkler, Cheryl A, Guo, Xiuqing, Zager, Phillip, Hanson, Robert L, and the FIND Research Group

Subjects
Biological Sciences, Genetics, Diabetes, Human Genome, American Indian or Alaska Native, Health Disparities, Minority Health, Metabolic and endocrine, Black or African American, Algorithms, Chromosome Mapping, Diabetic Nephropathies, Genetic Markers, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Indians, North American, Likelihood Functions, Mexican Americans, Models, Genetic, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Principal Component Analysis, United States, White People, Individual genetic ancestry, Population structure, SNP, Diabetic nephropathy, FIND Research Group, Information and Computing Sciences, Medical and Health Sciences, Bioinformatics, Biological sciences, Biomedical and clinical sciences
Abstract

BackgroundThe presence of population structure in a sample may confound the search for important genetic loci associated with disease. Our four samples in the Family Investigation of Nephropathy and Diabetes (FIND), European Americans, Mexican Americans, African Americans, and American Indians are part of a genome- wide association study in which population structure might be particularly important. We therefore decided to study in detail one component of this, individual genetic ancestry (IGA). From SNPs present on the Affymetrix 6.0 Human SNP array, we identified 3 sets of ancestry informative markers (AIMs), each maximized for the information in one the three contrasts among ancestral populations: Europeans (HAPMAP, CEU), Africans (HAPMAP, YRI and LWK), and Native Americans (full heritage Pima Indians). We estimate IGA and present an algorithm for their standard errors, compare IGA to principal components, emphasize the importance of balancing information in the ancestry informative markers (AIMs), and test the association of IGA with diabetic nephropathy in the combined sample.ResultsA fixed parental allele maximum likelihood algorithm was applied to the FIND to estimate IGA in four samples: 869 American Indians; 1385 African Americans; 1451 Mexican Americans; and 826 European Americans. When the information in the AIMs is unbalanced, the estimates are incorrect with large error. Individual genetic admixture is highly correlated with principle components for capturing population structure. It takes ~700 SNPs to reduce the average standard error of individual admixture below 0.01. When the samples are combined, the resulting population structure creates associations between IGA and diabetic nephropathy.ConclusionsThe identified set of AIMs, which include American Indian parental allele frequencies, may be particularly useful for estimating genetic admixture in populations from the Americas. Failure to balance information in maximum likelihood, poly-ancestry models creates biased estimates of individual admixture with large error. This also occurs when estimating IGA using the Bayesian clustering method as implemented in the program STRUCTURE. Odds ratios for the associations of IGA with disease are consistent with what is known about the incidence and prevalence of diabetic nephropathy in these populations.

Published
2016

43. The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

Author

Mallick, Swapan, Li, Heng, Lipson, Mark, Mathieson, Iain, Gymrek, Melissa, Racimo, Fernando, Zhao, Mengyao, Chennagiri, Niru, Nordenfelt, Susanne, Tandon, Arti, Skoglund, Pontus, Lazaridis, Iosif, Sankararaman, Sriram, Fu, Qiaomei, Rohland, Nadin, Renaud, Gabriel, Erlich, Yaniv, Willems, Thomas, Gallo, Carla, Spence, Jeffrey P, Song, Yun S, Poletti, Giovanni, Balloux, Francois, van Driem, George, de Knijff, Peter, Romero, Irene Gallego, Jha, Aashish R, Behar, Doron M, Bravi, Claudio M, Capelli, Cristian, Hervig, Tor, Moreno-Estrada, Andres, Posukh, Olga L, Balanovska, Elena, Balanovsky, Oleg, Karachanak-Yankova, Sena, Sahakyan, Hovhannes, Toncheva, Draga, Yepiskoposyan, Levon, Tyler-Smith, Chris, Xue, Yali, Abdullah, M Syafiq, Ruiz-Linares, Andres, Beall, Cynthia M, Di Rienzo, Anna, Jeong, Choongwon, Starikovskaya, Elena B, Metspalu, Ene, Parik, Jüri, Villems, Richard, Henn, Brenna M, Hodoglugil, Ugur, Mahley, Robert, Sajantila, Antti, Stamatoyannopoulos, George, Wee, Joseph TS, Khusainova, Rita, Khusnutdinova, Elza, Litvinov, Sergey, Ayodo, George, Comas, David, Hammer, Michael F, Kivisild, Toomas, Klitz, William, Winkler, Cheryl A, Labuda, Damian, Bamshad, Michael, Jorde, Lynn B, Tishkoff, Sarah A, Watkins, W Scott, Metspalu, Mait, Dryomov, Stanislav, Sukernik, Rem, Singh, Lalji, Thangaraj, Kumarasamy, Pääbo, Svante, Kelso, Janet, Patterson, Nick, and Reich, David

Subjects
Human Genome, Genetics, Animals, Australia, Black People, Datasets as Topic, Genetic Variation, Genetics, Population, Genome, Human, Genomics, History, Ancient, Human Migration, Humans, Mutation Rate, Native Hawaiian or Other Pacific Islander, Neanderthals, New Guinea, Phylogeny, Racial Groups, Sequence Analysis, DNA, Species Specificity, Time Factors, General Science & Technology
Abstract

Here we report the Simons Genome Diversity Project data set: high quality genomes from 300 individuals from 142 diverse populations. These genomes include at least 5.8 million base pairs that are not present in the human reference genome. Our analysis reveals key features of the landscape of human genome variation, including that the rate of accumulation of mutations has accelerated by about 5% in non-Africans compared to Africans since divergence. We show that the ancestors of some pairs of present-day human populations were substantially separated by 100,000 years ago, well before the archaeologically attested onset of behavioural modernity. We also demonstrate that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans; instead, their modern human ancestry is consistent with coming from the same source as that of other non-Africans.

Published
2016

44. Ancient human genomes suggest three ancestral populations for present-day Europeans

Author

Lazaridis, Iosif, Patterson, Nick, Mittnik, Alissa, Renaud, Gabriel, Mallick, Swapan, Kirsanow, Karola, Sudmant, Peter H., Schraiber, Joshua G., Castellano, Sergi, Lipson, Mark, Berger, Bonnie, Economou, Christos, Bollongino, Ruth, Fu, Qiaomei, Bos, Kirsten I., Nordenfelt, Susanne, Li, Heng, de Filippo, Cesare, Prüfer, Kay, Sawyer, Susanna, Posth, Cosimo, Haak, Wolfgang, Hallgren, Fredrik, Fornander, Elin, Rohland, Nadin, Delsate, Dominique, Francken, Michael, Guinet, Jean-Michel, Wahl, Joachim, Ayodo, George, Babiker, Hamza A., Bailliet, Graciela, Balanovska, Elena, Balanovsky, Oleg, Barrantes, Ramiro, Bedoya, Gabriel, Ben-Ami, Haim, Bene, Judit, Berrada, Fouad, Bravi, Claudio M., Brisighelli, Francesca, Busby, George, Cali, Francesco, Churnosov, Mikhail, Cole, David E. C., Corach, Daniel, Damba, Larissa, van Driem, George, Dryomov, Stanislav, Dugoujon, Jean-Michel, Fedorova, Sardana A., Romero, Irene Gallego, Gubina, Marina, Hammer, Michael, Henn, Brenna, Hervig, Tor, Hodoglugil, Ugur, Jha, Aashish R., Karachanak-Yankova, Sena, Khusainova, Rita, Khusnutdinova, Elza, Kittles, Rick, Kivisild, Toomas, Klitz, William, Kučinskas, Vaidutis, Kushniarevich, Alena, Laredj, Leila, Litvinov, Sergey, Loukidis, Theologos, Mahley, Robert W., Melegh, Béla, Metspalu, Ene, Molina, Julio, Mountain, Joanna, Näkkäläjärvi, Klemetti, Nesheva, Desislava, Nyambo, Thomas, Osipova, Ludmila, Parik, Jüri, Platonov, Fedor, Posukh, Olga, Romano, Valentino, Rothhammer, Francisco, Rudan, Igor, Ruizbakiev, Ruslan, Sahakyan, Hovhannes, Sajantila, Antti, Salas, Antonio, Starikovskaya, Elena B., Tarekegn, Ayele, Toncheva, Draga, Turdikulova, Shahlo, Uktveryte, Ingrida, Utevska, Olga, Vasquez, René, Villena, Mercedes, Voevoda, Mikhail, Winkler, Cheryl, Yepiskoposyan, Levon, Zalloua, Pierre, Zemunik, Tatijana, Cooper, Alan, Capelli, Cristian, Thomas, Mark G., Ruiz-Linares, Andres, Tishkoff, Sarah A., Singh, Lalji, Thangaraj, Kumarasamy, Villems, Richard, Comas, David, Sukernik, Rem, Metspalu, Mait, Meyer, Matthias, Eichler, Evan E., Burger, Joachim, Slatkin, Montgomery, Pääbo, Svante, Kelso, Janet, Reich, David, and Krause, Johannes

Subjects
Quantitative Biology - Populations and Evolution
Abstract

We sequenced genomes from a $\sim$7,000 year old early farmer from Stuttgart in Germany, an $\sim$8,000 year old hunter-gatherer from Luxembourg, and seven $\sim$8,000 year old hunter-gatherers from southern Sweden. We analyzed these data together with other ancient genomes and 2,345 contemporary humans to show that the great majority of present-day Europeans derive from at least three highly differentiated populations: West European Hunter-Gatherers (WHG), who contributed ancestry to all Europeans but not to Near Easterners; Ancient North Eurasians (ANE), who were most closely related to Upper Paleolithic Siberians and contributed to both Europeans and Near Easterners; and Early European Farmers (EEF), who were mainly of Near Eastern origin but also harbored WHG-related ancestry. We model these populations' deep relationships and show that EEF had $\sim$44% ancestry from a "Basal Eurasian" lineage that split prior to the diversification of all other non-African lineages.

Published
2013
Full Text
View/download PDF

48. Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group

Author

Franceschini, Nora, Feldman, David L., Berg, Jonathan S., Besse, Whitney, Chang, Alexander R., Dahl, Neera K., Gbadegesin, Rasheed, Pollak, Martin R., Rasouly, Hila Milo, Smith, Richard J.H., Winkler, Cheryl A., Gharavi, Ali G., Ars, Elisabet, Reza Bekheirnia, Mir, Bier, Louise, Bleyer, Anthony J., Fuller, Lindsey J., Halbritter, Jan, Harris, Peter C., Kiryluk, Krzysztof, Knoers, Nine V.A.M., Kopp, Jeffrey B., Kramer, Holly, Lagas, Sharon S., Lieske, John C., Lu, Weining, Mannon, Roslyn B., Markowitz, Glen, Moe, Orson W., Nadkarni, Girish N., Nast, Cynthia C., Parekh, Rulan S., Pei, York, Reed, Katie, Rehm, Heidi L., Richards, Denay J., Roberts, Mary-Beth, Sabatello, Maya, Salant, David J., Sampson, Matthew G., Sanna-Cherchi, Simone, Santoriello, Dominick, Sedor, John R., Sneddon, Tam P., Watnick, Terry, Wilfond, Benjamin S., Williams, Winfred W., and Wong, Craig S.

Abstract

About 37 million people in the United States have chronic kidney disease, a disease that encompasses multiple causes. About 10% or more of kidney diseases in adults and as many as 70% of selected chronic kidney diseases in children are expected to be explained by genetic causes. Despite the advances in genetic testing and an increasing understanding of the genetic bases of certain kidney diseases, genetic testing in nephrology lags behind other medical fields. More understanding of the benefits and logistics of genetic testing is needed to advance the implementation of genetic testing in chronic kidney diseases. Accordingly, the National Kidney Foundation convened a Working Group of experts with diverse expertise in genetics, nephrology, and allied fields to develop recommendations for genetic testing for monogenic disorders and to identify genetic risk factors for oligogenic and polygenic causes of kidney diseases. Algorithms for clinical decision making on genetic testing and a road map for advancing genetic testing in kidney diseases were generated. An important aspect of this initiative was the use of a modified Delphi process to reach group consensus on the recommendations. The recommendations and resources described herein provide support to nephrologists and allied health professionals to advance the use of genetic testing for diagnosis and screening of kidney diseases.

Published
2024
Full Text
View/download PDF

49. Global diversity, population stratification, and selection of human copy-number variation.

Author

Krumm, Niklas, Huddleston, John, Coe, Bradley, Baker, Carl, Nordenfelt, Susanne, Bamshad, Michael, Jorde, Lynn, Posukh, Olga, Sahakyan, Hovhannes, Watkins, W, Yepiskoposyan, Levon, Abdullah, M, Bravi, Claudio, Capelli, Cristian, Hervig, Tor, Wee, Joseph, Tyler-Smith, Chris, van Driem, George, Romero, Irene, Jha, Aashish, Karachanak-Yankova, Sena, Toncheva, Draga, Comas, David, Kivisild, Toomas, Ruiz-Linares, Andres, Sajantila, Antti, Metspalu, Ene, Parik, Jüri, Villems, Richard, Starikovskaya, Elena, Ayodo, George, Beall, Cynthia, Di Rienzo, Anna, Hammer, Michael, Khusainova, Rita, Khusnutdinova, Elza, Klitz, William, Winkler, Cheryl, Labuda, Damian, Metspalu, Mait, Tishkoff, Sarah, Dryomov, Stanislav, Sukernik, Rem, Patterson, Nick, Reich, David, Eichler, Evan, Mallick, Swapan, Nelson, Bradley, Hormozdiari, Fereydoun, Henn, Brenna, and Sudmant, Peter

Subjects
Animals, Black People, DNA Copy Number Variations, Evolution, Molecular, Gene Duplication, Genome, Human, Hominidae, Humans, Native Hawaiian or Other Pacific Islander, Phylogeny, Polymorphism, Single Nucleotide, Population, Selection, Genetic, Sequence Deletion
Abstract

In order to explore the diversity and selective signatures of duplication and deletion human copy-number variants (CNVs), we sequenced 236 individuals from 125 distinct human populations. We observed that duplications exhibit fundamentally different population genetic and selective signatures than deletions and are more likely to be stratified between human populations. Through reconstruction of the ancestral human genome, we identify megabases of DNA lost in different human lineages and pinpoint large duplications that introgressed from the extinct Denisova lineage now found at high frequency exclusively in Oceanic populations. We find that the proportion of CNV base pairs to single-nucleotide-variant base pairs is greater among non-Africans than it is among African populations, but we conclude that this difference is likely due to unique aspects of non-African population history as opposed to differences in CNV load.

Published
2015

50. Global diversity, population stratification, and selection of human copy-number variation

Author

Sudmant, Peter H, Mallick, Swapan, Nelson, Bradley J, Hormozdiari, Fereydoun, Krumm, Niklas, Huddleston, John, Coe, Bradley P, Baker, Carl, Nordenfelt, Susanne, Bamshad, Michael, Jorde, Lynn B, Posukh, Olga L, Sahakyan, Hovhannes, Watkins, W Scott, Yepiskoposyan, Levon, Abdullah, M Syafiq, Bravi, Claudio M, Capelli, Cristian, Hervig, Tor, Wee, Joseph TS, Tyler-Smith, Chris, van Driem, George, Romero, Irene Gallego, Jha, Aashish R, Karachanak-Yankova, Sena, Toncheva, Draga, Comas, David, Henn, Brenna, Kivisild, Toomas, Ruiz-Linares, Andres, Sajantila, Antti, Metspalu, Ene, Parik, Jüri, Villems, Richard, Starikovskaya, Elena B, Ayodo, George, Beall, Cynthia M, Di Rienzo, Anna, Hammer, Michael F, Khusainova, Rita, Khusnutdinova, Elza, Klitz, William, Winkler, Cheryl, Labuda, Damian, Metspalu, Mait, Tishkoff, Sarah A, Dryomov, Stanislav, Sukernik, Rem, Patterson, Nick, Reich, David, and Eichler, Evan E

Subjects
Genetics, Human Genome, Animals, Black People, DNA Copy Number Variations, Evolution, Molecular, Gene Duplication, Genome, Human, Hominidae, Humans, Native Hawaiian or Other Pacific Islander, Phylogeny, Polymorphism, Single Nucleotide, Population, Selection, Genetic, Sequence Deletion, General Science & Technology
Abstract

In order to explore the diversity and selective signatures of duplication and deletion human copy-number variants (CNVs), we sequenced 236 individuals from 125 distinct human populations. We observed that duplications exhibit fundamentally different population genetic and selective signatures than deletions and are more likely to be stratified between human populations. Through reconstruction of the ancestral human genome, we identify megabases of DNA lost in different human lineages and pinpoint large duplications that introgressed from the extinct Denisova lineage now found at high frequency exclusively in Oceanic populations. We find that the proportion of CNV base pairs to single-nucleotide-variant base pairs is greater among non-Africans than it is among African populations, but we conclude that this difference is likely due to unique aspects of non-African population history as opposed to differences in CNV load.

Published
2015

Catalog

Books, media, physical & digital resources
See catalog results