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Clinical and Experimental Nephrology

Erschienen in:

01.04.2014 | Review Article

The biology of APOL1 with insights into the association between APOL1 variants and chronic kidney disease

verfasst von: Sethu M. Madhavan, John F. O’Toole

Erschienen in: Clinical and Experimental Nephrology | Ausgabe 2/2014

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Abstract

Recent studies have identified genetic variants in APOL1 that may contribute to the increased incidence of kidney disease in populations with African ancestry. Here, we review the biology of APOL1 present in the circulation and localized to the kidney as it may contribute to the pathogenesis of APOL1-associated kidney disease.

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, Mokrzycki MH, Schelling JR, Simon E, Trachtman H, Vlahov D, Winkler CA. MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. Nat Genet. 2008;40:1175–84.PubMedCentralPubMedCrossRef

Kao WH, 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 MW, Parekh RS. MYH9 is associated with nondiabetic end-stage renal disease in African Americans. Nat Genet. 2008;40:1185–92.PubMedCrossRef

Kitiyakara C, Kopp JB, Eggers P. Trends in the epidemiology of focal segmental glomerulosclerosis. Semin Nephrol. 2003;23:172–82.PubMedCrossRef

Eggers PW, Kimmel PL. Is there an epidemic of HIV Infection in the US ESRD program? J Am Soc Nephrol. 2004;15:2477–85.PubMedCrossRef

Nelson GW, Freedman BI, Bowden DW, Langefeld CD, An P, Hicks PJ, Bostrom MA, Johnson RC, Kopp JB, Winkler CA. Dense mapping of MYH9 localizes the strongest kidney disease associations to the region of introns 13 to 15. Hum Mol Genet. 2010;19:1805–15.PubMedCentralPubMedCrossRef

Genovese G, Friedman DJ, Ross MD, Lecordier L, Uzureau P, Freedman BI, Bowden DW, Langefeld CD, Oleksyk TK, Uscinski Knob AL, Bernhardy AJ, Hicks PJ, Nelson GW, Vanhollebeke B, Winkler CA, Kopp JB, Pays E, Pollak MR. Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science. 2010;329:841–5.PubMedCentralPubMedCrossRef

Tzur S, Rosset S, Shemer R, Yudkovsky G, Selig S, Tarekegn A, Bekele E, Bradman N, Wasser WG, Behar DM, Skorecki K. Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene. Hum Genet. 2010;128:345–50.PubMedCentralPubMedCrossRef

Genovese G, Friedman DJ, Pollak MR. APOL1 variants and kidney disease in people of recent African ancestry. Nat Rev Nephrol. 2013;9:240–4.PubMedCrossRef

Monajemi H, Fontijn RD, Pannekoek H, Horrevoets AJ. The apolipoprotein L gene cluster has emerged recently in evolution and is expressed in human vascular tissue. Genomics. 2002;79:539–46.PubMedCrossRef

10.

Ko WY, Rajan P, Gomez F, Scheinfeldt L, An P, Winkler CA, Froment A, Nyambo TB, Omar SA, Wambebe C, Ranciaro A, Hirbo JB, Tishkoff SA. Identifying Darwinian selection acting on different human APOL1 variants among diverse African populations. Am J Hum Genet. 2013;93:54–66.PubMedCentralPubMedCrossRef

11.

Rosset S, Tzur S, Behar DM, Wasser WG, Skorecki K. The population genetics of chronic kidney disease: insights from the MYH9-APOL1 locus. Nat Rev Nephrol. 2011;7:313–26.PubMedCrossRef

12.

Vanhamme L, Paturiaux-Hanocq F, Poelvoorde P, Nolan DP, Lins L, Van Den Abbeele J, Pays A, Tebabi P, Van XH, Jacquet A, Moguilevsky N, Dieu M, Kane JP, De BP, Brasseur R, Pays E. Apolipoprotein L-I is the trypanosome lytic factor of human serum. Nature. 2003;422:83–7.PubMedCrossRef

13.

Perez-Morga D, Vanhollebeke B, Paturiaux-Hanocq F, Nolan DP, Lins L, Homble F, Vanhamme L, Tebabi P, Pays A, Poelvoorde P, Jacquet A, Brasseur R, Pays E. Apolipoprotein L-I promotes trypanosome lysis by forming pores in lysosomal membranes. Science. 2005;309:469–72.PubMedCrossRef

14.

Duchateau PN, Pullinger CR, Orellana RE, Kunitake ST, Naya-Vigne J, O’Connor PM, Malloy MJ, Kane JP. Apolipoprotein L, a new human high density lipoprotein apolipoprotein expressed by the pancreas. Identification, cloning, characterization, and plasma distribution of apolipoprotein L. J Biol Chem. 1997;272:25576–82.PubMedCrossRef

15.

Duchateau PN, Movsesyan I, Yamashita S, Sakai N, Hirano K, Schoenhaus SA, O’Connor-Kearns PM, Spencer SJ, Jaffe RB, Redberg RF, Ishida BY, Matsuzawa Y, Kane JP, Malloy MJ. Plasma apolipoprotein L concentrations correlate with plasma triglycerides and cholesterol levels in normolipidemic, hyperlipidemic, and diabetic subjects. J Lipid Res. 2000;41:1231–6.PubMed

16.

Albert TS, Duchateau PN, Deeb SS, Pullinger CR, Cho MH, Heilbron DC, Malloy MJ, Kane JP, Brown BG. Apolipoprotein L-I is positively associated with hyperglycemia and plasma triglycerides in CAD patients with low HDL. J Lipid Res. 2005;46:469–74.PubMedCrossRef

17.

Duchateau PN, Pullinger CR, Cho MH, Eng C, Kane JP. Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new gene. J Lipid Res. 2001;42:620–30.PubMed

18.

Bentley AR, Doumatey AP, Chen G, Huang H, Zhou J, Shriner D, Jiang C, Zhang Z, Liu G, Fasanmade O, Johnson T, Oli J, Okafor G, Eghan BA Jr, Agyenim-Boateng K, Adeleye J, Balogun W, Adebamowo C, Amoah A, Acheampong J, Adeyemo A, Rotimi CN. Variation in APOL1 contributes to Ancestry-level differences in HDLc-kidney function association. Int J Nephrol. 2012;2012:748984. doi:10.1155/2012/748984.PubMedCentralPubMedCrossRef

19.

Freedman BI, Langefeld CD, Murea M, Ma L, Otvos JD, Turner J, Antinozzi PA, Divers J, Hicks PJ, Bowden DW, Rocco MV, Parks JS. Apolipoprotein L1 nephropathy risk variants associate with HDL subfraction concentration in African Americans. Nephrol Dial Transplant. 2011;26:3805–10.PubMedCentralPubMedCrossRef

20.

Madhavan SM, O’Toole JF, Konieczkowski M, Ganesin S, Bruggeman LA, Sedor JR. APOL1 localization in normal kidney and non-diabetic kidney disease. J Am Soc Nephrol. 2011;22:2119–28.

21.

Reeves-Daniel AM, Depalma JA, Bleyer AJ, Rocco MV, Murea M, Adams PL, Langefeld CD, Bowden DW, Hicks PJ, Stratta RJ, Lin JJ, Kiger DF, Gautreaux MD, Divers J, Freedman BI. The APOL1 gene and allograft survival after kidney transplantation. Am J Transplant. 2011;11:1025–30.PubMedCentralPubMedCrossRef

22.

Lee BT, Kumar V, Williams TA, Abdi R, Bernhardy A, Dyer C, Conte S, Genovese G, Ross MD, Friedman DJ, Gaston R, Milford E, Pollak MR, Chandraker A. The APOL1 genotype of African American kidney transplant recipients does not impact 5-year allograft survival. Am J Transplant. 2012;12:1924–8.PubMedCentralPubMedCrossRef

23.

Wan G, Zhaorigetu S, Liu Z, Kaini R, Jiang Z, Hu CA. Apolipoprotein L1, a novel Bcl-2 homology domain 3-only lipid-binding protein, induces autophagic cell death. J Biol Chem. 2008;283:21540–9.PubMedCentralPubMedCrossRef

24.

Huber TB, Edelstein CL, Hartleben B, Inoki K, Dong Z, Koya D, Kume S, Lieberthal W, Pallet N, Quiroga A, Ravichandran K, Susztak K, Yoshida S, Dong Z. Emerging role of autophagy in kidney function, diseases and aging. Autophagy. 2012;8:1009–31.PubMedCentralPubMedCrossRef

Titel: The biology of APOL1 with insights into the association between APOL1 variants and chronic kidney disease
verfasst von: Sethu M. Madhavan
John F. O’Toole
Publikationsdatum: 01.04.2014
Verlag: Springer Japan
Erschienen in: Clinical and Experimental Nephrology / Ausgabe 2/2014
Print ISSN: 1342-1751
Elektronische ISSN: 1437-7799
DOI: https://doi.org/10.1007/s10157-013-0907-4

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The biology of APOL1 with insights into the association between APOL1 variants and chronic kidney disease

Abstract

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