APOL1 nephropathy: from gene to mechanisms of kidney injury

被引：76

作者：

Kruzel-Davila, Etty ^{[1
,2
,3
]}

Wasser, Walter G. ^{[3
,4
]}

Aviram, Sharon ^{[1
,2
]}

Skorecki, Karl ^{[1
,2
,3
]}

机构：

[1] Technion Israel Inst Technol, Rappaport Fac Med, Rambam Hlth Care Campus, IL-3109601 Haifa, Israel

[2] Technion Israel Inst Technol, Res Inst, Rambam Hlth Care Campus, IL-3109601 Haifa, Israel

[3] Rambam Hlth Care Campus, IL-3109601 Haifa, Israel

[4] Mayanei HaYeshua Med Ctr, IL-51544 Bnei Braq, Israel

来源：

NEPHROLOGY DIALYSIS TRANSPLANTATION | 2016年 / 31卷 / 03期

基金：

美国国家科学基金会; 以色列科学基金会;

关键词：

admixture; African American; FSGS; HIV; hypertension-attributed nephropathy; STAGE RENAL-DISEASE; HIV-ASSOCIATED NEPHROPATHY; TRYPANOSOME LYTIC FACTOR; LIPID-BINDING PROTEIN; APOLIPOPROTEIN-L GENE; RISK VARIANTS; AFRICAN-AMERICAN; POPULATION-GENETICS; ASSOCIATION; PROGRESSION;

D O I：

10.1093/ndt/gfu391

中图分类号：

R3 [基础医学]; R4 [临床医学];

学科分类号：

1001 ; 1002 ; 100602 ;

摘要：

The contribution of African ancestry to the risk of focal segmental glomerulosclerosis and chronic kidney disease has been partially explained by the recently described chromosome 22q variants in the gene apolipoprotein L1 (APOL1). The APOL1 variants appear at a high allele frequency in populations of West African ancestry as a result of apparent adaptive selection of the heterozygous state. Heterozygosity protects from infection with Trypanosoma brucei rhodesiense. This review will describe the role of the approaches in population genetics for the description of APOL1-associated nephropathies and draw inferences as to the biologic mechanisms from genetic epidemiology findings to date. Modifier loci can influence APOL1 risk for the development of kidney disease. 'Second hits', both viral and non-viral, may explain the discrepancy between the remarkably high odds ratios and the low lifetime risks of kidney disease in two allele carriers of APOL1 risk variants. Therapeutic strategies for APOL1-associated nephropathies will require the prevention and treatment of these 'second hits' and the development of drugs to protect the APOL1 downstream renal injury pathways.

引用

页码：349 / 358

页数：10

共 69 条

[21] Lifetime Incidence of CKD Stages 3-5 in the United States [J].

Grams, Morgan E. ;

Chow, Eric K. H. ;

Segev, Dorry L. ;

Coresh, Josef .

AMERICAN JOURNAL OF KIDNEY DISEASES, 2013, 62 (02) :245-252

[22] Autophagy influences glomerular disease susceptibility and maintains podocyte homeostasis in aging mice [J].

Hartleben, Bjoern ;

Goedel, Markus ;

Meyer-Schwesinger, Catherine ;

Liu, Shuya ;

Ulrich, Theresa ;

Koebler, Sven ;

Wiech, Thorsten ;

Grahammer, Florian ;

Arnold, Sebastian J. ;

Lindenmeyer, Maja T. ;

Cohen, Clemens D. ;

Pavenstaedt, Hermann ;

Kerjaschki, Dontscho ;

Mizushima, Noboru ;

Shaw, Andrey S. ;

Walz, Gerd ;

Huber, Tobias B. .

JOURNAL OF CLINICAL INVESTIGATION, 2010, 120 (04) :1084-1096

[23] Increased Burden of Cardiovascular Disease in Carriers of APOL1 Genetic Variants [J].

Ito, Kaoru ;

Bick, Alexander G. ;

Flannick, Jason ;

Friedman, David J. ;

Genovese, Giulio ;

Parfenov, Michael G. ;

DePalma, Steven R. ;

Gupta, Namrata ;

Gabriel, Stacey B. ;

Taylor, Herman A. ;

Fox, Ervin R. ;

Newton-Cheh, Christopher ;

Kathiresan, Sekar ;

Hirschhorn, Joel N. ;

Altshuler, David M. ;

Pollak, Martin R. ;

Wilson, James G. ;

Seidman, J. G. ;

Seidman, Christine .

CIRCULATION RESEARCH, 2014, 114 (05) :845-850

[24] APOL1 Null Alleles from a Rural Village in India Do Not Correlate with Glomerulosclerosis [J].

Johnstone, Duncan B. ;

Shegokar, Vijay ;

Nihalani, Deepak ;

Rathore, Yogendra Singh ;

Mallik, Leena ;

Ashish ;

Zare, Vasant ;

Ikizler, H. Omer ;

Powar, Rajaram ;

Holzman, Lawrence B. .

PLOS ONE, 2012, 7 (12)

[25] Risk factors for chronic kidney disease in a large cohort of HIV-1 infected individuals initiating antiretroviral therapy in routine care [J].

Kalayjian, Robert C. ;

Lau, Bryan ;

Mechekano, Rhoderick N. ;

Crane, Heidi M. ;

Rodriguez, Benigno ;

Salata, Robert A. ;

Krishnasami, Zipporah ;

Willig, James H. ;

Martin, Jeffrey N. ;

Moore, Richard D. ;

Eron, Joseph J. ;

Kitahata, Mari M. .

AIDS, 2012, 26 (15) :1907-1915

[26] Genetic Variation in APOL1 Associates with Younger Age at Hemodialysis Initiation [J].

Kanji, Zahra ;

Powe, Camille E. ;

Wenger, Julia B. ;

Huang, Chunmei ;

Ankers, Elizabeth ;

Sullivan, Dorothy A. ;

Collerone, Gina ;

Powe, Neil R. ;

Tonelli, Marcello ;

Bhan, Ishir ;

Bernhardy, Andrea J. ;

DiBartolo, Salvatore ;

Friedman, David ;

Genovese, Giulio ;

Pollak, Martin R. ;

Thadhani, Ravi .

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2011, 22 (11) :2091-2097

[27] MYH9 is associated with nondiabetic end-stage renal disease in African Americans [J].

Kao, W. H. Linda ;

Klag, Michael J. ;

Meoni, Lucy A. ;

Reich, David ;

Berthier-Schaad, Yvette ;

Li, Man ;

Coresh, Josef ;

Patterson, Nick ;

Tandon, Arti ;

Powe, Neil R. ;

Fink, Nancy E. ;

Sadler, John H. ;

Weir, Matthew R. ;

Abboud, Hanna E. ;

Adler, Sharon G. ;

Divers, Jasmin ;

Iyengar, Sudha K. ;

Freedman, Barry I. ;

Kimmel, Paul L. ;

Knowler, William C. ;

Kohn, Orly F. ;

Kramp, Kristopher ;

Leehey, David J. ;

Nicholas, Susanne B. ;

Pahl, Madeleine V. ;

Schelling, Jeffrey R. ;

Sedor, John R. ;

Thornley-Brown, Denyse ;

Winkler, Cheryl A. ;

Smith, Michael W. ;

Parekh, Rulan S. .

NATURE GENETICS, 2008, 40 (10) :1185-1192

[28] Segregation, Income Disparities, and Survival in Hemodialysis Patients [J].

Kimmel, Paul L. ;

Fwu, Chyng-Wen ;

Eggers, Paul W. .

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2013, 24 (02) :293-301

[29] Identifying Darwinian Selection Acting on Different Human APOL1 Variants among Diverse African Populations [J].

Ko, Wen-Ya ;

Rajan, Prianka ;

Gomez, Felicia ;

Scheinfeldt, Laura ;

An, Ping ;

Winkler, Cheryl A. ;

Froment, Alain ;

Nyambo, Thomas B. ;

Omar, Sabah A. ;

Wambebe, Charles ;

Ranciaro, Alessia ;

Hirbo, Jibril B. ;

Tishkoff, Sarah A. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2013, 93 (01) :54-66

[30] MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis [J].

Kopp, Jeffrey B. ;

Smith, Michael W. ;

Nelson, George W. ;

Johnson, Randall C. ;

Freedman, Barry I. ;

Bowden, Donald W. ;

Oleksyk, Taras ;

McKenzie, Louise M. ;

Kajiyama, Hiroshi ;

Ahuja, Tejinder S. ;

Berns, Jeffrey S. ;

Briggs, William ;

Cho, Monique E. ;

Dart, Richard A. ;

Kimmel, Paul L. ;

Korbet, Stephen M. ;

Michel, Donna M. ;

Mokrzycki, Michele H. ;

Schelling, Jeffrey R. ;

Simon, Eric ;

Trachtman, Howard ;

Vlahov, David ;

Winkler, Cheryl A. .

NATURE GENETICS, 2008, 40 (10) :1175-1184

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