Skip to main content
Erschienen in: Pediatric Nephrology 4/2021

06.04.2020 | Review

A focus on the association of Apol1 with kidney disease in children

verfasst von: Pepe M. Ekulu, Agathe B. Nkoy, Oyindamola C. Adebayo, Orly K. Kazadi, Michel N. Aloni, Fanny O. Arcolino, Rene M. Ngiyulu, Jean-Lambert E. Gini, François B. Lepira, Lamberthus P. Van den Heuvel, Elena N. Levtchenko

Erschienen in: Pediatric Nephrology | Ausgabe 4/2021

Einloggen, um Zugang zu erhalten

Abstract

Individuals of African origin have an increased risk of developing various progressive chronic kidney diseases (CKD). This risk has been attributed to genetic variants (G1, G2) in apolipoprotein-L1 (APOL1) gene. In the pediatric population, especially in children affected by sickle cell disease (SCD), by human immunodeficiency virus (HIV), or with various glomerular diseases, APOL1 risk variants have been associated with the development of hypertension, albuminuria, and more rapid decline of kidney function. The present review focuses on existing APOL1-related epidemiological data in children with CKD. It also includes data from studies addressing racial disparities in CKD, the APOL1-related innate immunity, and the relationship between APOL1 and CKD and pathogenic pathways mediating APOL1-related kidney injury.
Literatur
1.
Zurück zum Zitat Cappuccio FP, Miller MA (2016) Cardiovascular disease and hypertension in sub-Saharan Africa: burden, risk and interventions. Intern Emerg Med 11:299–305PubMedPubMedCentral Cappuccio FP, Miller MA (2016) Cardiovascular disease and hypertension in sub-Saharan Africa: burden, risk and interventions. Intern Emerg Med 11:299–305PubMedPubMedCentral
2.
Zurück zum Zitat Martins D, Tareen N, Norris KC (2002) The epidemiology of end-stage renal disease among African Americans. Am J Med Sci 323:65–71PubMed Martins D, Tareen N, Norris KC (2002) The epidemiology of end-stage renal disease among African Americans. Am J Med Sci 323:65–71PubMed
3.
Zurück zum Zitat Quaggin SE, George AL (2011) Apolipoprotein L1 and the genetic basis for racial disparity in chronic kidney disease. J Am Soc Nephrol 22:1955–1958PubMed Quaggin SE, George AL (2011) Apolipoprotein L1 and the genetic basis for racial disparity in chronic kidney disease. J Am Soc Nephrol 22:1955–1958PubMed
4.
Zurück zum Zitat Moxey-Mims M (2018) Kidney disease in African American children: biological and nonbiological disparities. Am J Kidney Dis 72:S17–S21PubMed Moxey-Mims M (2018) Kidney disease in African American children: biological and nonbiological disparities. Am J Kidney Dis 72:S17–S21PubMed
5.
Zurück zum Zitat Alves TP, Lewis J (2011) Racial differences in chronic kidney disease (CKD) and end-stage renal disease (ESRD) in the United States: a social and economic dilemma. Clin Nephrol 74:72–77 Alves TP, Lewis J (2011) Racial differences in chronic kidney disease (CKD) and end-stage renal disease (ESRD) in the United States: a social and economic dilemma. Clin Nephrol 74:72–77
6.
Zurück zum Zitat Klag MJ (1997) End-stage renal disease in African-American and white men. 16-year MRFIT findings. JAMA J Am Med Assoc 277:1293–1298 Klag MJ (1997) End-stage renal disease in African-American and white men. 16-year MRFIT findings. JAMA J Am Med Assoc 277:1293–1298
7.
Zurück zum Zitat Siemens TA, Riella MC, Moraes TP, Riella CV (2018) APOL1 risk variants and kidney disease: what we know so far. Brazilian J Nephrol 40:388–402 Siemens TA, Riella MC, Moraes TP, Riella CV (2018) APOL1 risk variants and kidney disease: what we know so far. Brazilian J Nephrol 40:388–402
8.
Zurück zum Zitat Reidy KJ, Hjorten R, Parekh RS (2018) Genetic risk of APOL1 and kidney disease in children and young adults of African ancestry. Curr Opin Pediatr 30:252–259PubMedPubMedCentral Reidy KJ, Hjorten R, Parekh RS (2018) Genetic risk of APOL1 and kidney disease in children and young adults of African ancestry. Curr Opin Pediatr 30:252–259PubMedPubMedCentral
9.
Zurück zum Zitat Freedman BI, Limou S, Ma L, Kopp JB (2018) A key contributor to racial disparities in CKD. Am J Kidney Dis 7:S8–S16 Freedman BI, Limou S, Ma L, Kopp JB (2018) A key contributor to racial disparities in CKD. Am J Kidney Dis 7:S8–S16
10.
Zurück zum Zitat Kasembeli AN, Duarte R, Ramsay M, Saraladevi N (2015) African origins and chronic kidney disease susceptibility in the human immunodeficiency virus era. World J Nephrol 4:295–306PubMedPubMedCentral Kasembeli AN, Duarte R, Ramsay M, Saraladevi N (2015) African origins and chronic kidney disease susceptibility in the human immunodeficiency virus era. World J Nephrol 4:295–306PubMedPubMedCentral
11.
Zurück zum Zitat Kopp JB, Smith MW, Nelson GW, Johnson RC, Freedman BI, Bowden DW, Oleksyk T, McKenzie LM, Kajiyama H, Ahuja TS, Berns JS, Briggs W, Cho ME, Dart RA, Kimmel PL, Korbet SM, Michel DM, Morkrzycki MH, Schelling JR, Simon E, Trachtman H, Vlahov D, Winkler CA (2008) MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. Nat Genet 40:1175–1184PubMedPubMedCentral Kopp JB, Smith MW, Nelson GW, Johnson RC, Freedman BI, Bowden DW, Oleksyk T, McKenzie LM, Kajiyama H, Ahuja TS, Berns JS, Briggs W, Cho ME, Dart RA, Kimmel PL, Korbet SM, Michel DM, Morkrzycki MH, Schelling JR, Simon E, Trachtman H, Vlahov D, Winkler CA (2008) MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. Nat Genet 40:1175–1184PubMedPubMedCentral
12.
Zurück zum Zitat Kao WHL, Klag MJ, Meoni LA, Reich D, Berthier-Schaad Y, Li M, Coresh J, Patterson N, Tandon A, Powe NR, Fink NE, Sadler JH, Weir MR, Abboud HE, Adler SG, Divers J, Iyengar SK, Freedman BI, Kimmel PL, Knowler WC, Kohn OF, Kramp K, Leehey DJ, Nicholas SB, Pahl MV, Schelling JR, Sedor JR, Thornley-Brown D, Winkler CA, Smith MA, Parekh RS (2008) MYH9 is associated with nondiabetic end-stage renal disease in African Americans. Nat Genet 40:1185–1192PubMed Kao WHL, Klag MJ, Meoni LA, Reich D, Berthier-Schaad Y, Li M, Coresh J, Patterson N, Tandon A, Powe NR, Fink NE, Sadler JH, Weir MR, Abboud HE, Adler SG, Divers J, Iyengar SK, Freedman BI, Kimmel PL, Knowler WC, Kohn OF, Kramp K, Leehey DJ, Nicholas SB, Pahl MV, Schelling JR, Sedor JR, Thornley-Brown D, Winkler CA, Smith MA, Parekh RS (2008) MYH9 is associated with nondiabetic end-stage renal disease in African Americans. Nat Genet 40:1185–1192PubMed
13.
Zurück zum Zitat Madhavan SM, O’Toole JF (2014) The biology of APOL1 with insights into the association between APOL1 variants and chronic kidney disease. Clin Exp Nephrol 18:238–242PubMedPubMedCentral Madhavan SM, O’Toole JF (2014) The biology of APOL1 with insights into the association between APOL1 variants and chronic kidney disease. Clin Exp Nephrol 18:238–242PubMedPubMedCentral
14.
Zurück zum Zitat Freedman BI, Kopp JB, Langefeld CD, Genovese G, Friedman DJ, Nelson GW, Winkler CA, Bowden DW, Pollak MR (2010) The apolipoprotein L1 (APOL1) gene and nondiabetic nephropathy in African Americans. J Am Soc Nephrol 21:1422–1426PubMedPubMedCentral Freedman BI, Kopp JB, Langefeld CD, Genovese G, Friedman DJ, Nelson GW, Winkler CA, Bowden DW, Pollak MR (2010) The apolipoprotein L1 (APOL1) gene and nondiabetic nephropathy in African Americans. J Am Soc Nephrol 21:1422–1426PubMedPubMedCentral
15.
Zurück zum Zitat Genovese G, Friedman DJ, Ross MD, Lecordier L, Uzureau P, Freedman BI, Bowden DW, Langefeld CD, Oleksyk TK, Uscinski Knob A, Bernhardy AJ, Hicks PJ, Nelson GW, Vanhollebeke B, Winkler CA, Kopp JB, Pays E, Pollak MR (2010) Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science 329:841–845PubMedPubMedCentral Genovese G, Friedman DJ, Ross MD, Lecordier L, Uzureau P, Freedman BI, Bowden DW, Langefeld CD, Oleksyk TK, Uscinski Knob A, Bernhardy AJ, Hicks PJ, Nelson GW, Vanhollebeke B, Winkler CA, Kopp JB, Pays E, Pollak MR (2010) Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science 329:841–845PubMedPubMedCentral
16.
Zurück zum Zitat Tzur S, Rosset S, Shemer R, Yudkovsky G, Selig S, Tarekegn A, Bekel E, Bradman N, Wasser WG, Behar DM, Shorecki K (2010) Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene. Hum Genet 128:345–350PubMedPubMedCentral Tzur S, Rosset S, Shemer R, Yudkovsky G, Selig S, Tarekegn A, Bekel E, Bradman N, Wasser WG, Behar DM, Shorecki K (2010) Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene. Hum Genet 128:345–350PubMedPubMedCentral
17.
Zurück zum Zitat Ray PE, Hu CAA (2011) Advances in our understanding of the pathogenesis of HIV-1 associated nephropathy in children. Futur Virol 6:883–894 Ray PE, Hu CAA (2011) Advances in our understanding of the pathogenesis of HIV-1 associated nephropathy in children. Futur Virol 6:883–894
18.
Zurück zum Zitat Thomson R, Genovese G, Canon C, Kovacsics D, Higgins MK, Carrington M, Winkler CA, Kopp J, Rotimi C, Adeyemo A, Doumatey A, Ayodo G, Alper SL, Pollak MR, Friedman DJ, Raper J (2014) Evolution of the primate trypanolytic factor APOL1. Proc Natl Acad Sci U S A 111:E2130–E2139PubMedPubMedCentral Thomson R, Genovese G, Canon C, Kovacsics D, Higgins MK, Carrington M, Winkler CA, Kopp J, Rotimi C, Adeyemo A, Doumatey A, Ayodo G, Alper SL, Pollak MR, Friedman DJ, Raper J (2014) Evolution of the primate trypanolytic factor APOL1. Proc Natl Acad Sci U S A 111:E2130–E2139PubMedPubMedCentral
19.
Zurück zum Zitat Friedman DJ, Pollak MR (2016) Apolipoprotein L1 and kidney disease in African Americans. Trends Endocrinol Metab 27:204–215PubMedPubMedCentral Friedman DJ, Pollak MR (2016) Apolipoprotein L1 and kidney disease in African Americans. Trends Endocrinol Metab 27:204–215PubMedPubMedCentral
20.
Zurück zum Zitat Pays E, Vanhollebeke B, Uzureau P, Lecordier L, Perez-Morga D (2014) The molecular arms race between African trypanosomes and humans. Nat Rev Microbiol 12:575–584PubMed Pays E, Vanhollebeke B, Uzureau P, Lecordier L, Perez-Morga D (2014) The molecular arms race between African trypanosomes and humans. Nat Rev Microbiol 12:575–584PubMed
21.
Zurück zum Zitat Vanwalleghem G, Fontaine F, Lecordier L, Tebabi P, Klewe K, Nolan DP, Yamaryo-Botté Y, Botté C, Kremer A, Burkard GS, Rassow J, Roditi I, Pérez-Morga D, Pays E (2015) Coupling of lysosomal and mitochondrial membrane permeabilization in trypanolysis by APOL. Nat Commun 6:8078PubMedPubMedCentral Vanwalleghem G, Fontaine F, Lecordier L, Tebabi P, Klewe K, Nolan DP, Yamaryo-Botté Y, Botté C, Kremer A, Burkard GS, Rassow J, Roditi I, Pérez-Morga D, Pays E (2015) Coupling of lysosomal and mitochondrial membrane permeabilization in trypanolysis by APOL. Nat Commun 6:8078PubMedPubMedCentral
22.
Zurück zum Zitat Limou S, Nelson GW, Kopp JB, Winkler CA (2014) APOL1 kidney risk alleles: population genetics and disease associations. Adv Chronic Kidney Dis 21:426–433PubMedPubMedCentral Limou S, Nelson GW, Kopp JB, Winkler CA (2014) APOL1 kidney risk alleles: population genetics and disease associations. Adv Chronic Kidney Dis 21:426–433PubMedPubMedCentral
23.
Zurück zum Zitat Lecordier L, Vanhollebeke B, Poelvoorde P, Tebabi P, Paturiaux-Hanocq F, Andris F, Lins L, Pays E (2009) C-Terminal mutants of apolipoprotein L-I efficiently kill both Trypanosoma brucei brucei and Trypanosoma brucei rhodesiense. PLoS Pathog 5:e1000685PubMedPubMedCentral Lecordier L, Vanhollebeke B, Poelvoorde P, Tebabi P, Paturiaux-Hanocq F, Andris F, Lins L, Pays E (2009) C-Terminal mutants of apolipoprotein L-I efficiently kill both Trypanosoma brucei brucei and Trypanosoma brucei rhodesiense. PLoS Pathog 5:e1000685PubMedPubMedCentral
24.
Zurück zum Zitat Ma L, Divers J, Freedman BI (2019) Mechanisms of injury in APOL1 -associated kidney disease. Transplantation 103:487–492PubMedPubMedCentral Ma L, Divers J, Freedman BI (2019) Mechanisms of injury in APOL1 -associated kidney disease. Transplantation 103:487–492PubMedPubMedCentral
25.
Zurück zum Zitat Kozlitina J, Zhou H, Brown PN, Rohm RJ, Pan Y, Ayanoglu G, Du X, Rimmer E, Reilly DF, Roddy TP, Cully DF, Vogt TF, Blom D, Hoek M (2016) Plasma levels of risk-variant APOL1 do not associate with renal disease in a population-based cohort. J Am Soc Nephrol 27:3204–3219PubMedPubMedCentral Kozlitina J, Zhou H, Brown PN, Rohm RJ, Pan Y, Ayanoglu G, Du X, Rimmer E, Reilly DF, Roddy TP, Cully DF, Vogt TF, Blom D, Hoek M (2016) Plasma levels of risk-variant APOL1 do not associate with renal disease in a population-based cohort. J Am Soc Nephrol 27:3204–3219PubMedPubMedCentral
26.
Zurück zum Zitat Kopp JB, Nelson GW, Sampath K, Randall CJ, Genovese G, An P, Friedman D, Briggs W, Dart R, Korbet S, Mokrzycki MH, Kimmel PL, Limou S, Ahuja TS, Berns JS, Fryc J, Simon EE, Smith MC, Trachtman H, Michel DM, Schelling JR, Vlahov D, Pollak M, Winkler CA (2011) APOL1 genetic variants in focal segmental glomerulosclerosis and HIV-associated nephropathy. J Am Soc Nephrol 22:2129–2137PubMedPubMedCentral Kopp JB, Nelson GW, Sampath K, Randall CJ, Genovese G, An P, Friedman D, Briggs W, Dart R, Korbet S, Mokrzycki MH, Kimmel PL, Limou S, Ahuja TS, Berns JS, Fryc J, Simon EE, Smith MC, Trachtman H, Michel DM, Schelling JR, Vlahov D, Pollak M, Winkler CA (2011) APOL1 genetic variants in focal segmental glomerulosclerosis and HIV-associated nephropathy. J Am Soc Nephrol 22:2129–2137PubMedPubMedCentral
27.
Zurück zum Zitat Kasembeli AN, Duarte R, Ramsay M, Mosiane P, Dickens C, Dix-Peek T, Limou S, Sezgin E, Nelson GW, Fogo AB, Goetsch S, Kopp JB, Winkler CA, Naicker S (2015) APOL1 risk variants are strongly associated with HIV-associated nephropathy in black South Africans. J Am Soc Nephrol 11:2882–2890 Kasembeli AN, Duarte R, Ramsay M, Mosiane P, Dickens C, Dix-Peek T, Limou S, Sezgin E, Nelson GW, Fogo AB, Goetsch S, Kopp JB, Winkler CA, Naicker S (2015) APOL1 risk variants are strongly associated with HIV-associated nephropathy in black South Africans. J Am Soc Nephrol 11:2882–2890
28.
Zurück zum Zitat Divers J, Núñez M, High KP, Murea M, Rocco MV, Lijun M, Bowden DW, Hicks PJ, Spainhour M, Ornelles DA, Kleiboeker SB, Duncan K, Langefeld CD, Turner JL, Freedman BI (2013) JC polyoma virus interacts with APOL1 in African Americans with nondiabetic nephropathy. Kidney Int 84:1207–1213PubMedPubMedCentral Divers J, Núñez M, High KP, Murea M, Rocco MV, Lijun M, Bowden DW, Hicks PJ, Spainhour M, Ornelles DA, Kleiboeker SB, Duncan K, Langefeld CD, Turner JL, Freedman BI (2013) JC polyoma virus interacts with APOL1 in African Americans with nondiabetic nephropathy. Kidney Int 84:1207–1213PubMedPubMedCentral
29.
Zurück zum Zitat Freedman BI, Kistler AL, Skewes-Cox P, Ganem D, Spainhour M, Turner J, Divers J, Langefeld CD, Murea M, Hicks PJ, Hemal AK, Snipes JA, Zhao L, Abend JR, Lyles DS, Ma L, Skorecki KL (2018) JC polyoma viruria associates with protection from chronic kidney disease independently from apolipoprotein L1 genotype in African Americans. Nephrol Dial Transplant 33:1960–1967PubMedPubMedCentral Freedman BI, Kistler AL, Skewes-Cox P, Ganem D, Spainhour M, Turner J, Divers J, Langefeld CD, Murea M, Hicks PJ, Hemal AK, Snipes JA, Zhao L, Abend JR, Lyles DS, Ma L, Skorecki KL (2018) JC polyoma viruria associates with protection from chronic kidney disease independently from apolipoprotein L1 genotype in African Americans. Nephrol Dial Transplant 33:1960–1967PubMedPubMedCentral
30.
Zurück zum Zitat Nichols B, Jog P, Lee JH, Blackler D, Wilmot M, D'Agati V, Markowitz G, Kopp J, Alper SL, Pollak MR, Friedman DJ (2015) Innate immunity pathways regulate the nephropathy gene apolipoprotein L1. Kidney Int 87:332–342PubMed Nichols B, Jog P, Lee JH, Blackler D, Wilmot M, D'Agati V, Markowitz G, Kopp J, Alper SL, Pollak MR, Friedman DJ (2015) Innate immunity pathways regulate the nephropathy gene apolipoprotein L1. Kidney Int 87:332–342PubMed
31.
32.
Zurück zum Zitat Hayek SS, Koh KH, Grams ME, Wei C, Ko YA, Li J, Samelko B, Dande RR, Lee HW, Hahm E, Peev V, Tracy M, Tardi NJ, Gupta V, Altintas MM, Garborcauskas G, Stojanocic N, Winkler CA, Lipkowitz MS, Tin A, Inker LA, Levey AS, Zeier M, Freedman BI, Kopp JB, Skorecki K, Coresh J, Quyyumi AA, Sever S, Reiser J (2017) A tripartite complex of suPAR, APOL1 risk variants and α v β 3 integrin on podocytes mediates chronic kidney disease. Nat Med 23:945–956PubMedPubMedCentral Hayek SS, Koh KH, Grams ME, Wei C, Ko YA, Li J, Samelko B, Dande RR, Lee HW, Hahm E, Peev V, Tracy M, Tardi NJ, Gupta V, Altintas MM, Garborcauskas G, Stojanocic N, Winkler CA, Lipkowitz MS, Tin A, Inker LA, Levey AS, Zeier M, Freedman BI, Kopp JB, Skorecki K, Coresh J, Quyyumi AA, Sever S, Reiser J (2017) A tripartite complex of suPAR, APOL1 risk variants and α v β 3 integrin on podocytes mediates chronic kidney disease. Nat Med 23:945–956PubMedPubMedCentral
33.
Zurück zum Zitat Langefeld CD, Comeau ME, Ng MCY, Guan M, Dimitrov L, Mudgal P, Spainhour MH, Julian BA, Edberg JC, Croker JA, Divers J, Hicks PJ, Bowden DW, Chan GC, Ma L, Palmer ND, Kimberly RP, Freedman BI (2018) Genome-wide association studies suggest that APOL1-environment interactions more likely trigger kidney disease in African Americans with nondiabetic nephropathy than strong APOL1–second gene interactions. Kidney Int 94:599–607PubMedPubMedCentral Langefeld CD, Comeau ME, Ng MCY, Guan M, Dimitrov L, Mudgal P, Spainhour MH, Julian BA, Edberg JC, Croker JA, Divers J, Hicks PJ, Bowden DW, Chan GC, Ma L, Palmer ND, Kimberly RP, Freedman BI (2018) Genome-wide association studies suggest that APOL1-environment interactions more likely trigger kidney disease in African Americans with nondiabetic nephropathy than strong APOL1–second gene interactions. Kidney Int 94:599–607PubMedPubMedCentral
34.
Zurück zum Zitat Heymann J, Winkler CA, Hoek M, Susztak K, Kopp JB (2017) Therapeutics for APOL1 nephropathies: putting out the fire in the podocyte. Nephrol Dial Transplant 32:i65–i70PubMedPubMedCentral Heymann J, Winkler CA, Hoek M, Susztak K, Kopp JB (2017) Therapeutics for APOL1 nephropathies: putting out the fire in the podocyte. Nephrol Dial Transplant 32:i65–i70PubMedPubMedCentral
35.
Zurück zum Zitat Uzureau S, Coquerelle C, Vermeiren C, Uzureau P, Van Acker A, Pilotte L, Monteyne D, Acolty V, Vanhollebeke B, Van den Eynde B, Pérez-Morga D, Moser M, Pays E (2016) Apolipoproteins L control cell death triggered by TLR3/TRIF signaling in dendritic cells. Eur J Immunol 46:1854–1866PubMed Uzureau S, Coquerelle C, Vermeiren C, Uzureau P, Van Acker A, Pilotte L, Monteyne D, Acolty V, Vanhollebeke B, Van den Eynde B, Pérez-Morga D, Moser M, Pays E (2016) Apolipoproteins L control cell death triggered by TLR3/TRIF signaling in dendritic cells. Eur J Immunol 46:1854–1866PubMed
36.
Zurück zum Zitat Okamoto K, Rausch JW, Wakashin H, Fu Y, Chung JY, Dummer PD, Shin MK, Chandra P, Suzuki K, Shrivastav S, Rosenberg AZ, Hewitt SM, Ray PE, Noiri E, Le Grice SFJ, Hoek M, Han Z, Winkler CA, Kopp JB (2018) APOL1 risk allele RNA contributes to renal toxicity by activating protein kinase R. Commun Biol 1:188PubMedPubMedCentral Okamoto K, Rausch JW, Wakashin H, Fu Y, Chung JY, Dummer PD, Shin MK, Chandra P, Suzuki K, Shrivastav S, Rosenberg AZ, Hewitt SM, Ray PE, Noiri E, Le Grice SFJ, Hoek M, Han Z, Winkler CA, Kopp JB (2018) APOL1 risk allele RNA contributes to renal toxicity by activating protein kinase R. Commun Biol 1:188PubMedPubMedCentral
37.
Zurück zum Zitat Ma L, Snipes JA, Murea M, Freedman BI, Chou JW, Hawkins GA, Langefeld CD, Bharadwaj MS, Molina AJ, Craddock AL, Miller LD, Cheng D, Weckerle A, Parks JS, Petrovic S, Hicks PJ, Hemal AK (2017) APOL1 renal-risk variants induce mitochondrial dysfunction. J Am Soc Nephrol 28:1093–1105PubMed Ma L, Snipes JA, Murea M, Freedman BI, Chou JW, Hawkins GA, Langefeld CD, Bharadwaj MS, Molina AJ, Craddock AL, Miller LD, Cheng D, Weckerle A, Parks JS, Petrovic S, Hicks PJ, Hemal AK (2017) APOL1 renal-risk variants induce mitochondrial dysfunction. J Am Soc Nephrol 28:1093–1105PubMed
38.
Zurück zum Zitat Olabisi OA, Zhang J-Y, VerPlank L, Zahler N, DiBartolo S, Heneghan JF, Schlöndorff JS, Hee Suh J, Yan P, Alper SL, Friedman DJ, Pollak MR (2016) APOL1 kidney disease risk variants cause cytotoxicity by depleting cellular potassium and inducing stress-activated protein kinases. Proc Natl Acad Sci U S A 113:830–837PubMed Olabisi OA, Zhang J-Y, VerPlank L, Zahler N, DiBartolo S, Heneghan JF, Schlöndorff JS, Hee Suh J, Yan P, Alper SL, Friedman DJ, Pollak MR (2016) APOL1 kidney disease risk variants cause cytotoxicity by depleting cellular potassium and inducing stress-activated protein kinases. Proc Natl Acad Sci U S A 113:830–837PubMed
39.
Zurück zum Zitat Lan X, Jhaveri A, Cheng K, Wen H, Saleem MA, Mathieson PW, Mikulak J, Aviram S, Malhotra A, Skorecki K, Singhal PC (2014) APOL1 risk variants enhance podocyte necrosis through compromising lysosomal membrane permeability. Am J Physiol Physiol 307:F326–F336 Lan X, Jhaveri A, Cheng K, Wen H, Saleem MA, Mathieson PW, Mikulak J, Aviram S, Malhotra A, Skorecki K, Singhal PC (2014) APOL1 risk variants enhance podocyte necrosis through compromising lysosomal membrane permeability. Am J Physiol Physiol 307:F326–F336
40.
Zurück zum Zitat Beckerman P, Bi-Karchin J, Park ASD, Qiu C, Dummer PD, Soomro I, Boustany-Kari CM, Pullen SS, Miner JH, Hu CAA, Rohacs T, Inoue K, Ishibe S, Saleem MA, Palmer MB, Cuervo AM, Kopp JB, Susztak K (2017) Transgenic expression of human APOL1 risk variants in podocytes induces kidney disease in mice. Nat Med 23:429–438PubMedPubMedCentral Beckerman P, Bi-Karchin J, Park ASD, Qiu C, Dummer PD, Soomro I, Boustany-Kari CM, Pullen SS, Miner JH, Hu CAA, Rohacs T, Inoue K, Ishibe S, Saleem MA, Palmer MB, Cuervo AM, Kopp JB, Susztak K (2017) Transgenic expression of human APOL1 risk variants in podocytes induces kidney disease in mice. Nat Med 23:429–438PubMedPubMedCentral
41.
Zurück zum Zitat Kumar V, Paliwal N, Ayasolla K, Vashistha H, Jha A, Chandel N, Chowdhary S, Saleem MA, Malhotra A, Chander PN, Skorecki K, Singhal PC (2019) Disruption of APOL1-miR193a axis induces disorganization of podocyte actin cytoskeleton. Sci Rep 9:3582PubMedPubMedCentral Kumar V, Paliwal N, Ayasolla K, Vashistha H, Jha A, Chandel N, Chowdhary S, Saleem MA, Malhotra A, Chander PN, Skorecki K, Singhal PC (2019) Disruption of APOL1-miR193a axis induces disorganization of podocyte actin cytoskeleton. Sci Rep 9:3582PubMedPubMedCentral
42.
Zurück zum Zitat Adeyemo A, Esezobor C, Solarin A, Abeyagunawardena A, Kari JA, El Desoky S, Greenbaum LA, Kamel M, Kallash M, Silva C, Young A, Hunley TE, de Jesus-Gonzalez N, Srivastava T, Gdadegesin R (2018) HLA-DQA1 and APOL1 as risk loci for childhood-onset steroid-sensitive and steroid-resistant nephrotic syndrome. Am J Kidney Dis 71:399–406PubMed Adeyemo A, Esezobor C, Solarin A, Abeyagunawardena A, Kari JA, El Desoky S, Greenbaum LA, Kamel M, Kallash M, Silva C, Young A, Hunley TE, de Jesus-Gonzalez N, Srivastava T, Gdadegesin R (2018) HLA-DQA1 and APOL1 as risk loci for childhood-onset steroid-sensitive and steroid-resistant nephrotic syndrome. Am J Kidney Dis 71:399–406PubMed
43.
Zurück zum Zitat Freedman BI, Skorecki K (2014) Gene–gene and gene–environment interactions in apolipoprotein L1 gene-associated nephropathy. Clin J Am Soc Nephrol 9:2006–2013PubMedPubMedCentral Freedman BI, Skorecki K (2014) Gene–gene and gene–environment interactions in apolipoprotein L1 gene-associated nephropathy. Clin J Am Soc Nephrol 9:2006–2013PubMedPubMedCentral
44.
Zurück zum Zitat Hoy WE, Hughson MD, Kopp JB, Mott SA, Bertram JF, Winkler CA (2015) APOL1 risk alleles are associated with exaggerated age-related changes in glomerular number and volume in African-American adults: an autopsy study. J Am Soc Nephrol 26:3179–3189PubMedPubMedCentral Hoy WE, Hughson MD, Kopp JB, Mott SA, Bertram JF, Winkler CA (2015) APOL1 risk alleles are associated with exaggerated age-related changes in glomerular number and volume in African-American adults: an autopsy study. J Am Soc Nephrol 26:3179–3189PubMedPubMedCentral
45.
Zurück zum Zitat Freedman BI, Langefeld CD, Lu L, Palmer ND, Smith SC, Bagwell BM, Hicks PJ, Xu J, Wagenknecht LE, Raffield LM, Register TC, Carr JJ, Bowden DW, Divers J (2015) APOL1 associations with nephropathy, atherosclerosis, and all-cause mortality in African Americans with type 2 diabetes. Kidney Int 87:176–181PubMed Freedman BI, Langefeld CD, Lu L, Palmer ND, Smith SC, Bagwell BM, Hicks PJ, Xu J, Wagenknecht LE, Raffield LM, Register TC, Carr JJ, Bowden DW, Divers J (2015) APOL1 associations with nephropathy, atherosclerosis, and all-cause mortality in African Americans with type 2 diabetes. Kidney Int 87:176–181PubMed
46.
Zurück zum Zitat Ng DK, Robertson CC, Woroniecki RP, Limou S, Gillies CE, Reidy KJ, Winkler CA, Hingorani S, Gibson KL, Hjorten R, Cb S, Kopp JB, Moxey-Mims M, Furth SL, Warady BA, Kretzler M, Sedor JR, Kaskel FJ, Sampson MG (2017) APOL1-associated glomerular disease among African-American children: a collaboration of the Chronic Kidney Disease in Children (CKiD) and Nephrotic Syndrome Study Network (NEPTUNE) cohorts. Nephrol Dial Transplant 32:983–990PubMed Ng DK, Robertson CC, Woroniecki RP, Limou S, Gillies CE, Reidy KJ, Winkler CA, Hingorani S, Gibson KL, Hjorten R, Cb S, Kopp JB, Moxey-Mims M, Furth SL, Warady BA, Kretzler M, Sedor JR, Kaskel FJ, Sampson MG (2017) APOL1-associated glomerular disease among African-American children: a collaboration of the Chronic Kidney Disease in Children (CKiD) and Nephrotic Syndrome Study Network (NEPTUNE) cohorts. Nephrol Dial Transplant 32:983–990PubMed
47.
Zurück zum Zitat Purswani MU, Patel K, Winkler CA, Spector SA, Hazra R, Seage GR, Mofenson L, Karalius B, Scott GB, Van Dyke RB, Kopp JB (2016) Brief report: APOL1 renal risk variants are associated with chronic kidney disease in children and youth with perinatal HIV infection. J Acquir Immune Defic Syndr 73:63–68PubMedPubMedCentral Purswani MU, Patel K, Winkler CA, Spector SA, Hazra R, Seage GR, Mofenson L, Karalius B, Scott GB, Van Dyke RB, Kopp JB (2016) Brief report: APOL1 renal risk variants are associated with chronic kidney disease in children and youth with perinatal HIV infection. J Acquir Immune Defic Syndr 73:63–68PubMedPubMedCentral
48.
Zurück zum Zitat Ekulu PM, Nkoy AB, Betukumesu DK, Aloni MN, Makulo JR, Sumaili EK, Mafuta EM, Elmonem MA, Arcolino FO, Kitetele FN, Lepira FB, Van den Heuvel LP, Levtchenko EN (2019) APOL1 risk genotypes are associated with early kidney damage in children in Sub-Saharan Africa. Kidney Int Rep 4:930–938PubMedPubMedCentral Ekulu PM, Nkoy AB, Betukumesu DK, Aloni MN, Makulo JR, Sumaili EK, Mafuta EM, Elmonem MA, Arcolino FO, Kitetele FN, Lepira FB, Van den Heuvel LP, Levtchenko EN (2019) APOL1 risk genotypes are associated with early kidney damage in children in Sub-Saharan Africa. Kidney Int Rep 4:930–938PubMedPubMedCentral
49.
Zurück zum Zitat Kormann R, Jannot AS, Narjoz C, Ribeil JA, Manceau S, Delville M, Joste V, Prié D, Pouchot J, Thervet E, Courbebaisse M, Arlet JB (2017) Roles of APOL1 G1 and G2 variants in sickle cell disease patients: kidney is the main target. Br J Haematol 179:323–335PubMed Kormann R, Jannot AS, Narjoz C, Ribeil JA, Manceau S, Delville M, Joste V, Prié D, Pouchot J, Thervet E, Courbebaisse M, Arlet JB (2017) Roles of APOL1 G1 and G2 variants in sickle cell disease patients: kidney is the main target. Br J Haematol 179:323–335PubMed
50.
Zurück zum Zitat Geard A, Pule GD, Chemegni BC, Ngo Bitoungui VJ, Kengne AP, Chimusa ER, Wonkam A (2017) Clinical and genetic predictors of renal dysfunctions in sickle cell anaemia in Cameroon HHS public access. Br J Haematol 178:629–639PubMedPubMedCentral Geard A, Pule GD, Chemegni BC, Ngo Bitoungui VJ, Kengne AP, Chimusa ER, Wonkam A (2017) Clinical and genetic predictors of renal dysfunctions in sickle cell anaemia in Cameroon HHS public access. Br J Haematol 178:629–639PubMedPubMedCentral
51.
Zurück zum Zitat Watanabe A, Feltran LS, Sampson MG (2019) Genetics of nephrotic syndrome presenting in childhood: core curriculum. Am J Kidney Dis 74:549–557PubMed Watanabe A, Feltran LS, Sampson MG (2019) Genetics of nephrotic syndrome presenting in childhood: core curriculum. Am J Kidney Dis 74:549–557PubMed
52.
Zurück zum Zitat Woroniecki RP, Ng DK, Limou S, Winkler CA, Reidy KJ, Mitsnefes M, Sampson MG, Wong CS, Warady BA, Furth SL, Kopp JB, Kaskel KJ (2016) Renal and cardiovascular morbidities associated with APOL1 status among African-American and non-African-American children with focal segmental glomerulosclerosis. Front Pediatr 4:426–433 Woroniecki RP, Ng DK, Limou S, Winkler CA, Reidy KJ, Mitsnefes M, Sampson MG, Wong CS, Warady BA, Furth SL, Kopp JB, Kaskel KJ (2016) Renal and cardiovascular morbidities associated with APOL1 status among African-American and non-African-American children with focal segmental glomerulosclerosis. Front Pediatr 4:426–433
53.
Zurück zum Zitat Guan I, Singer P, Frank R, Chorny N, Infante L, Sethna CB (2016) Role of race in kidney transplant outcomes in children with focal segmental glomerulosclerosis. Pediatr Transplant 20:790–797PubMed Guan I, Singer P, Frank R, Chorny N, Infante L, Sethna CB (2016) Role of race in kidney transplant outcomes in children with focal segmental glomerulosclerosis. Pediatr Transplant 20:790–797PubMed
54.
Zurück zum Zitat Freedman BI, Pastan SO, Israni AK, Schladt D, Julian BA, Gautreaux MD, Hauptfeld V, Bray RA, Gebel HM, Kirk AD, Gaston RS, Rogers J, Farney AC, Orlando G, Stratta RJ, Mohan S, Ma L, Langefeld CD, Bowden DW, Hicks PJ, PAlmer ND, Palanisamy A, Reeves-Daniel AM, Brown WM, Divers J (2016) APOL1 genotype and kidney transplantation outcomes from deceased African American donors. Transplantation 100:194–202PubMedPubMedCentral Freedman BI, Pastan SO, Israni AK, Schladt D, Julian BA, Gautreaux MD, Hauptfeld V, Bray RA, Gebel HM, Kirk AD, Gaston RS, Rogers J, Farney AC, Orlando G, Stratta RJ, Mohan S, Ma L, Langefeld CD, Bowden DW, Hicks PJ, PAlmer ND, Palanisamy A, Reeves-Daniel AM, Brown WM, Divers J (2016) APOL1 genotype and kidney transplantation outcomes from deceased African American donors. Transplantation 100:194–202PubMedPubMedCentral
55.
Zurück zum Zitat Lee BT, Kumar V, Williams TA, Bernhardy A, Dyer C, Conte S, Gnovese G, Ross MD, Friedman DJ, Gaston R, Milford E, Pollak MR, Chandraker A (2012) The APOL1 genotype of African American kidney transplant recipients does not impact 5-year allograft survival. Am J Transplant 12:1924–1928PubMedPubMedCentral Lee BT, Kumar V, Williams TA, Bernhardy A, Dyer C, Conte S, Gnovese G, Ross MD, Friedman DJ, Gaston R, Milford E, Pollak MR, Chandraker A (2012) The APOL1 genotype of African American kidney transplant recipients does not impact 5-year allograft survival. Am J Transplant 12:1924–1928PubMedPubMedCentral
56.
Zurück zum Zitat Freedman BI, Moxey-Mims M (2018) The APOL1 long-term kidney transplantation outcomes network—APOLLO. Clin J Am Soc Nephrol 13:940–942PubMedPubMedCentral Freedman BI, Moxey-Mims M (2018) The APOL1 long-term kidney transplantation outcomes network—APOLLO. Clin J Am Soc Nephrol 13:940–942PubMedPubMedCentral
Metadaten
Titel
A focus on the association of Apol1 with kidney disease in children
verfasst von
Pepe M. Ekulu
Agathe B. Nkoy
Oyindamola C. Adebayo
Orly K. Kazadi
Michel N. Aloni
Fanny O. Arcolino
Rene M. Ngiyulu
Jean-Lambert E. Gini
François B. Lepira
Lamberthus P. Van den Heuvel
Elena N. Levtchenko
Publikationsdatum
06.04.2020
Verlag
Springer Berlin Heidelberg
Erschienen in
Pediatric Nephrology / Ausgabe 4/2021
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-020-04553-z

Weitere Artikel der Ausgabe 4/2021

Pediatric Nephrology 4/2021 Zur Ausgabe

Update Pädiatrie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.