Chronic kidney disease (CKD) results from a wide array of processes that impair the kidney’s ability to perform its major functions. As many as 20 million Americans suffer from CKD and nearly a half million from end-stage renal disease, but there are also examples of centenarians with adequate renal function. Family-based and genome-wide studies suggest that genetic differences substantially influence an individual’s lifetime risk for kidney disease. One emerging theme is that evolution of genes related to host defense against pathogens may limit kidney longevity. The identification of these genetic factors will be critical for expanding our understanding of renal development and function as well as for the design of novel therapeutics for kidney disease.
David J. Friedman, Martin R. Pollak
Title and authors | Publication | Year |
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Development of a culturally targeted chatbot to inform living kidney donor candidates of African ancestry about APOL1 genetic testing: a mixed methods study.
Gordon EJ, Gacki-Smith J, Gooden MJ, Waite P, Yacat R, Abubakari ZR, Duquette D, Agrawal A, Friedewald J, Savage SK, Cooper M, Gilbert A, Muhammad LN, Wicklund C |
Journal of Community Genetics | 2024 |
Unveiling APOL1 haplotypes in a predominantly African-American cohort of kidney transplant patients: a novel classification using probe-independent quantitative real-time PCR
Dogan M, Watkins C, Ingram H, Moore N, Rucker GM, Gower EG, Eason JD, Bhalla A, Talwar M, Nezakatgoo N, Eymard C, Helmick R, Vanatta J, Bajwa A, Kuscu C, Kuscu C |
Frontiers in Medicine | 2024 |
Advancements in Research on Genetic Kidney Diseases Using Human-Induced Pluripotent Stem Cell-Derived Kidney Organoids.
Na DH, Cui S, Fang X, Lee H, Eum SH, Shin YJ, Lim SW, Yang CW, Chung BH |
Cells | 2024 |
Mechanistic insights into redox damage of the podocyte in hypertension
Ilatovskaya DV, Behr A, Staruschenko A, Hall G, Palygin O |
Hypertension (Dallas, Tex. : 1979) | 2024 |
APOL1 and APOL1-Associated Kidney Disease: A Common Disease, an Unusual Disease Gene − Proceedings of the Henry Shavelle Professorship
Pollak MR, Friedman DJ |
2023 | |
Genetics of Chronic Kidney Disease in Low-Resource Settings.
Ilori T, Watanabe A, Ng KH, Solarin A, Sinha A, Gbadegesin R |
Seminars in Nephrology | 2023 |
Management of traditional risk factors for the development and progression of chronic kidney disease
Lo R, Narasaki Y, Lei S, Rhee CM |
Clinical Kidney Journal | 2023 |
Hidden genetics behind glomerular scars: an opportunity to understand the heterogeneity of focal segmental glomerulosclerosis?
Mitrotti A, Giliberti M, Di Leo V, di Bari I, Pontrelli P, Gesualdo L, Mitrotti A, Giliberti M, Di Leo V, di Bari I, Pontrelli P, Gesualdo L |
Pediatric nephrology (Berlin, Germany) | 2023 |
How Genetics Can Improve Clinical Practice in Chronic Kidney Disease: From Bench to Bedside
Piras D, Lepori N, Cabiddu G, Pani A |
Journal of Personalized Medicine | 2022 |
Comparative Analysis of the APOL1 Variants in the Genetic Landscape of Renal Carcinoma Cells
Tzukerman M, Shamai Y, Abramovich I, Gottlieb E, Selig S, Skorecki K |
Cancers | 2022 |
APOL1 Risk Variants, Acute Kidney Injury, and Death in Participants With African Ancestry Hospitalized With COVID-19 From the Million Veteran Program
Hung AM, Shah SC, Bick AG, Yu Z, Chen HC, Hunt CM, Wendt F, Wilson O, Greevy RA, Chung CP, Suzuki A, Ho YL, Akwo E, Polimanti R, Zhou J, Reaven P, Tsao PS, Gaziano JM, Huffman JE, Joseph J, Luoh SW, Iyengar S, Chang KM, Casas JP, Matheny ME, O\u2019Donnell CJ, Cho K, Tao R, Susztak K, Robinson-Cohen C, Tuteja S, Siew ED |
JAMA internal medicine | 2022 |
Antisense oligonucleotides ameliorate kidney dysfunction in podocyte-specific APOL1 risk variant mice
Yang YW, Poudel B, Frederick J, Dhillon P, Shrestha R, Ma Z, Wu J, Okamoto K, Kopp JB, Booten SL, Gattis D, Watt AT, Palmer M, Aghajan M, Susztak K |
Molecular Therapy | 2022 |
Ion channels and channelopathies in glomeruli
Staruschenko A, Ma R, Palygin O, Dryer SE |
Physiological reviews | 2022 |
Precision medicine implementation challenges for APOL1 testing in chronic kidney disease in admixed populations
Giudicelli GC, De Souza CM, Veronese FV, Pereira LV, Hünemeier T, Vianna FS |
Frontiers in Genetics | 2022 |
Genetics in Chronic Kidney Disease: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
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Kidney International | 2022 |
Nutrition Intervention for Reduction of Cardiovascular Risk in African Americans Using the 2019 American College of Cardiology/American Heart Association Primary Prevention Guidelines
KA Williams, I Fughhi, S Fugar, M Mazur, S Gates, S Sawyer, H Patel, D Chambers, R McDaniel, JR Reiser, T Mason |
Nutrients | 2021 |
Evolution of Renal-Disease Factor APOL1 Results in Cis and Trans Orientations at the Endoplasmic Reticulum That Both Show Cytotoxic Effects
D Müller, J Schmitz, K Fischer, D Granado, AC Groh, V Krausel, SM Lüttgenau, TM Amelung, H Pavenstädt, T Weide, H Malik |
Molecular Biology and Evolution | 2021 |
APOL1 Nephropathy: From Genetics to Clinical Applications
DJ Friedman, MR Pollak |
Clinical journal of the American Society of Nephrology : CJASN | 2020 |
Association of APOL1 renal disease risk alleles with Trypanosoma brucei rhodesiense infection outcomes in the northern part of Malawi
K Kamoto, H Noyes, P Nambala, E Senga, J Musaya, B Kumwenda, B Bucheton, A Macleod, A Cooper, C Clucas, C Herz-Fowler, E Matove, AM Chiwaya, JE Chisi, A Benkahla |
PLoS neglected tropical diseases | 2019 |
APOL1 Kidney Risk Variants Induce Cell Death via Mitochondrial Translocation and Opening of the Mitochondrial Permeability Transition Pore
SS Shah, H Lannon, L Dias, JY Zhang, SL Alper, MR Pollak, DJ Friedman |
Journal of the American Society of Nephrology : JASN | 2019 |
Apolipoprotein L1, cardiovascular disease and hypertension: More questions than answers
Patel N, Nadkarni GN |
Cardiology Clinics | 2019 |
Genes and environment in chronic kidney disease hotspots:
DJ Friedman |
Current Opinion in Nephrology and Hypertension | 2018 |
APOL1: The Balance Imposed by Infection, Selection, and Kidney Disease
P Beckerman, K Susztak |
Trends in Molecular Medicine | 2018 |
APOL1 risk variants and kidney disease: what we know so far
TA Siemens, MC Riella, TP de Moraes, CV Riella |
2018 | |
Apolipoprotein L1 and Chronic Kidney Disease Risk in Young Potential Living Kidney Donors:
JE Locke, D Sawinski, RD Reed, B Shelton, PA MacLennan, V Kumar, S Mehta, RB Mannon, R Gaston, BA Julian, JJ Carr, JG Terry, M Kilgore, AB Massie, DL Segev, CE Lewis |
Annals of Surgery | 2018 |
Ethnicity matching and outcomes after kidney transplantation in the United Kingdom
B Pisavadia, A Arshad, I Chappelow, P Nightingale, B Anderson, J Nath, A Sharif, K Eller |
PloS one | 2018 |
An Exome-wide Association Study for Type 2 Diabetes–Attributed End-Stage Kidney Disease in African Americans
M Guan, JM Keaton, L Dimitrov, PJ Hicks, J Xu, ND Palmer, JG Wilson, BI Freedman, DW Bowden, MC Ng |
Kidney International Reports | 2018 |
Directed differentiation of human induced pluripotent stem cells into mature kidney podocytes and establishment of a Glomerulus Chip
S Musah, N Dimitrakakis, DM Camacho, GM Church, DE Ingber |
Nature Protocols | 2018 |
How Omics Data Can Be Used in Nephrology
EP Rhee |
American journal of kidney diseases : the official journal of the National Kidney Foundation | 2018 |
APOL1 Nephropathy Risk Variants and Incident Cardiovascular Disease Events in Community-Dwelling Black Adults
OM Gutiérrez, MR Irvin, NS Chaudhary, M Cushman, NA Zakai, VA David, S Limou, N Pamir, AP Reiner, RP Naik, MM Sale, MM Safford, HI Hyacinth, SE Judd, JB Kopp, CA Winkler |
Circulation. Genomic and precision medicine | 2018 |
Racial Disparities in Nephrology Consultation and Disease Progression among Veterans with CKD: An Observational Cohort Study
J Suarez, JB Cohen, V Potluri, W Yang, DE Kaplan, M Serper, SP Shah, PP Reese |
Journal of the American Society of Nephrology : JASN | 2018 |
A National Survey of Transplant Surgeons and Nephrologists on Implementing Apolipoprotein L1 ( APOL1) Genetic Testing Into Clinical Practice
Gordon EJ, Wicklund C, Lee J, Sharp RR, Friedewald J |
2018 | |
Transgenic expression of human APOL1 risk variants in podocytes induces kidney disease in mice
P Beckerman, J Bi-Karchin, AS Park, C Qiu, PD Dummer, I Soomro, CM Boustany-Kari, SS Pullen, JH Miner, CA Hu, T Rohacs, K Inoue, S Ishibe, MA Saleem, MB Palmer, AM Cuervo, JB Kopp, K Susztak |
Nature Medicine | 2017 |
Prospects for Precision Medicine in Glomerulonephritis Treatment
YC Liu, J Chun |
Canadian Journal of Kidney Health and Disease | 2017 |
Mature induced-pluripotent-stem-cell-derived human podocytes reconstitute kidney glomerular-capillary-wall function on a chip
S Musah, A Mammoto, TC Ferrante, SS Jeanty, M Hirano-Kobayashi, T Mammoto, K Roberts, S Chung, R Novak, M Ingram, T Fatanat-Didar, S Koshy, JC Weaver, GM Church, DE Ingber |
Nature Biomedical Engineering | 2017 |
Diversity and inclusion in genomic research: why the uneven progress?
AR Bentley, S Callier, CN Rotimi |
Journal of Community Genetics | 2017 |
Current State and Future Trends to Optimize the Care of African Americans with End-Stage Renal Disease
K Harding, TB Mersha, FA Webb, JA Vassalotti, SB Nicholas |
American Journal of Nephrology | 2017 |
Genome-wide association studies of albuminuria: towards genetic stratification in diabetes?
C Pattaro |
Journal of Nephrology | 2017 |
Race, Genomics and Chronic Disease: What Patients with African Ancestry Have to Say
CR Horowitz, K Ferryman, R Negron, T Sabin, M Rodriguez, RF Zinberg, E Böttinger, M Robinson |
Journal of health care for the poor and underserved | 2017 |
The functionality of African-specific variants in the TGFB1 regulatory region and their potential role in HIVAN
M Nel, JM Buys, FC Botha, N Wearne, S Prince, JM Heckmann |
Clinical and Experimental Nephrology | 2017 |
Donor and Recipient Ethnicity Impacts Renal Graft Adverse Outcomes
JM Kwan, Z Hajjiri, YF Chen, A Metwally, DL Perkins, PW Finn |
Journal of Racial and Ethnic Health Disparities | 2017 |
Apolipoprotein L1 and Kidney Disease in African Americans
DJ Friedman, MR Pollak |
Trends in Endocrinology & Metabolism | 2016 |
Association Analysis of the Cubilin (CUBN) and Megalin (LRP2) Genes with ESRD in African Americans
J Ma, M Guan, DW Bowden, MC Ng, PJ Hicks, JP Lea, L Ma, C Gao, ND Palmer, BI Freedman |
Clinical journal of the American Society of Nephrology : CJASN | 2016 |
APOL1 Risk Alleles Are Associated With More Severe Arteriosclerosis in Renal Resistance Vessels With Aging and Hypertension
MD Hughson, WE Hoy, SA Mott, VG Puelles, JF Bertram, CA Winkler, JB Kopp |
Kidney International Reports | 2016 |
Combined Effects of GSTM1 Null Allele and APOL1 Renal Risk Alleles in CKD Progression in the African American Study of Kidney Disease and Hypertension Trial
G Bodonyi-Kovacs, JZ Ma, J Chang, MS Lipkowitz, JB Kopp, CA Winkler, TH Le |
Journal of the American Society of Nephrology : JASN | 2016 |
APOL1-G1 in Nephrocytes Induces Hypertrophy and Accelerates Cell Death
Y Fu, J Zhu, A Richman, Y Zhang, X Xie, JR Das, J Li, PE Ray, Z Han |
Journal of the American Society of Nephrology : JASN | 2016 |
Apolipoprotein L1 Genetic Variants Are Associated with Chronic Kidney Disease but Not with Cardiovascular Disease in a Population Referred for Cardiac Catheterization
H Wang, PH Pun, L Kwee, D Craig, C Haynes, M Chryst-Ladd, LP Svetkey, UD Patel, ER Hauser, MR Pollak, WE Kraus, SH Shah |
Cardiorenal Medicine | 2016 |
APOL1 kidney disease risk variants cause cytotoxicity by depleting cellular potassium and inducing stress-activated protein kinases
OA Olabisi, JY Zhang, L VerPlank, N Zahler, S DiBartolo, JF Heneghan, JS Schlöndorff, JH Suh, P Yan, SL Alper, DJ Friedman, MR Pollak |
Proceedings of the National Academy of Sciences | 2015 |
Genetic variants and cell-free hemoglobin processing in sickle cell nephropathy
SL Saraf, X Zhang, B Shah, T Kanias, KP Gudehithlu, R Kittles, RF Machado, JA Arruda, MT Gladwin, AK Singh, VR Gordeuk |
Haematologica | 2015 |
Association of genetic variants with dyslipidemia and chronic kidney disease in a longitudinal population-based genetic epidemiological study
Y Yamada, K Matsui, I Takeuchi, T Fujimaki |
International journal of molecular medicine | 2015 |
Socioeconomic Disparities in Chronic Kidney Disease
SB Nicholas, K Kalantar-Zadeh, KC Norris |
Advances in Chronic Kidney Disease | 2015 |
APOL1 Risk Alleles Are Associated with Exaggerated Age-Related Changes in Glomerular Number and Volume in African-American Adults: An Autopsy Study
WE Hoy, MD Hughson, JB Kopp, SA Mott, JF Bertram, CA Winkler |
Journal of the American Society of Nephrology : JASN | 2015 |
Actualizing the Benefits of Genomic Discovery in Pediatric Nephrology
M Sampson |
Journal of pediatric genetics | 2015 |
Innate immunity pathways regulate the nephropathy gene Apolipoprotein L1
B Nichols, P Jog, JH Lee, D Blackler, M Wilmot, V D'Agati, G Markowitz, JB Kopp, SL Alper, MR Pollak, DJ Friedman |
Kidney International | 2014 |
Gene-Gene and Gene-Environment Interactions in Apolipoprotein L1 Gene-Associated Nephropathy
BI Freedman, K Skorecki |
Clinical journal of the American Society of Nephrology : CJASN | 2014 |
Kidney Transplant Access in the Southeast: View From the Bottom: View From the Bottom
RE Patzer, SO Pastan |
American Journal of Transplantation | 2014 |
Apolipoprotein L1 gene variants associate with prevalent kidney but not prevalent cardiovascular disease in the Systolic Blood Pressure Intervention Trial
CD Langefeld, J Divers, NM Pajewski, AT Hawfield, DM Reboussin, DE Bild, GA Kaysen, PL Kimmel, DS Raj, AC Ricardo, JT Wright, JR Sedor, MV Rocco, BI Freedman |
Kidney International | 2014 |
Histopathologic findings associated with APOL1 risk variants in chronic kidney disease
CP Larsen, ML Beggs, M Saeed, JM Ambruzs, LN Cossey, NC Messias, PD Walker, BI Freedman |
Modern Pathology | 2014 |
Genetic Variants and Risk of Chronic Kidney Disease
O Devuyst |
Peritoneal dialysis international : journal of the International Society for Peritoneal Dialysis | 2014 |
Explaining the Racial Difference in AKI Incidence
ME Grams, K Matsushita, Y Sang, MM Estrella, MC Foster, A Tin, WH Kao, J Coresh |
Journal of the American Society of Nephrology : JASN | 2014 |
Genetic Variation and Adaptation in Africa: Implications for Human Evolution and Disease
F Gomez, J Hirbo, SA Tishkoff |
Cold Spring Harbor perspectives in biology | 2014 |
A Consideration of Genetic Mechanisms Behind the Development of Hypertension in Blacks
W Tu, JH Pratt |
Current Hypertension Reports | 2013 |
Population Ancestry and Genetic Risk for Diabetes and Kidney, Cardiovascular, and Bone Disease: Modifiable Environmental Factors May Produce the Cures
BI Freedman, J Divers, ND Palmer |
American Journal of Kidney Diseases | 2013 |
Lifetime incidence of CKD stages 3-5 in the United States
ME Grams, EK Chow, DL Segev, J Coresh |
American journal of kidney diseases : the official journal of the National Kidney Foundation | 2013 |
Increased Burden of Cardiovascular Disease in Carriers of APOL1 Genetic Variants
K Ito, AG Bick, J Flannick, DJ Friedman, G Genovese, MG Parfenov, SR DePalma, N Gupta, SB Gabriel, HA Taylor, ER Fox, C Newton-Cheh, S Kathiresan, JN Hirschhorn, DM Altshuler, MR Pollak, JG Wilson, JG Seidman, C Seidman |
Circulation research | 2013 |
Is it variants in the apolipoprotein l1 gene, or blood pressure control, that predicts progression of nondiabetic hypertensive nephropathy in African Americans?
Cohen DL, Townsend RR |
Journal of clinical hypertension (Greenwich, Conn.) | 2013 |
Genetic variation in APOL1 and MYH9 genes is associated with chronic kidney disease among Nigerians
BO Tayo, H Kramer, BL Salako, O Gottesman, CA McKenzie, A Ogunniyi, EP Bottinger, RS Cooper |
International Urology and Nephrology | 2012 |
APOL1 null alleles from a rural village in India do not correlate with glomerulosclerosis
DB Johnstone, V Shegokar, D Nihalani, YS Rathore, L Mallik, Ashish, V Zare, HO Ikizler, R Powar, LB Holzman |
PloS one | 2012 |
Influence of race, ethnicity and socioeconomic status on kidney disease
RE Patzer, WM McClellan |
Nature reviews. Nephrology | 2012 |
Genetic Variants in Arhgef11 Are Associated With Kidney Injury in the Dahl Salt-Sensitive Rat
JM Williams, AC Johnson, C Stelloh, AW Dreisbach, N Franceschini, KR Regner, RR Townsend, RJ Roman, MR Garrett |
Hypertension | 2012 |
Race, renal disease and albuminuria
BI Freedman, DW Bowden |
Nature reviews. Nephrology | 2011 |