Genetics of Kidney Failure and the Evolving Story of APOL1

Overview

Journal J Clin Invest

Specialty General Medicine

Date 2011 Sep 2

PMID 21881214

Citations 69

Authors

David J Friedman

Martin R Pollak

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

Mechanistic Insights Into Redox Damage of the Podocyte in Hypertension.

Ilatovskaya D, Behr A, Staruschenko A, Hall G, Palygin O Hypertension. 2024; 82(1):14-25.

PMID: 39534957 PMC: 11655258. DOI: 10.1161/HYPERTENSIONAHA.124.22068.

Advancements in Research on Genetic Kidney Diseases Using Human-Induced Pluripotent Stem Cell-Derived Kidney Organoids.

Na D, Cui S, Fang X, Lee H, Eum S, Shin Y Cells. 2024; 13(14.

PMID: 39056771 PMC: 11274677. DOI: 10.3390/cells13141190.

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 G, Gower E Front Med (Lausanne). 2024; 11:1325128.

PMID: 38660426 PMC: 11039853. DOI: 10.3389/fmed.2024.1325128.

Development of a culturally targeted chatbot to inform living kidney donor candidates of African ancestry about APOL1 genetic testing: a mixed methods study.

Gordon E, Gacki-Smith J, Gooden M, Waite P, Yacat R, Abubakari Z J Community Genet. 2024; 15(2):205-216.

PMID: 38349598 PMC: 11031529. DOI: 10.1007/s12687-024-00698-8.

Management of traditional risk factors for the development and progression of chronic kidney disease.

Lo R, Narasaki Y, Lei S, Rhee C Clin Kidney J. 2023; 16(11):1737-1750.

PMID: 37915906 PMC: 10616454. DOI: 10.1093/ckj/sfad101.

References

Samanovic M, Molina-Portela M, Chessler A, Burleigh B, Raper J . Trypanosome lytic factor, an antimicrobial high-density lipoprotein, ameliorates Leishmania infection. PLoS Pathog. 2009; 5(1):e1000276. PMC: 2622765. DOI: 10.1371/journal.ppat.1000276. View

Stanescu H, Arcos-Burgos M, Medlar A, Bockenhauer D, Kottgen A, Dragomirescu L . Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. N Engl J Med. 2011; 364(7):616-26. DOI: 10.1056/NEJMoa1009742. View

Donadio J, Grande J . IgA nephropathy. N Engl J Med. 2002; 347(10):738-48. DOI: 10.1056/NEJMra020109. View

Fabian J, Naicker S . HIV and kidney disease in sub-Saharan Africa. Nat Rev Nephrol. 2009; 5(10):591-8. DOI: 10.1038/nrneph.2009.141. View

Smith E, Malik H . The apolipoprotein L family of programmed cell death and immunity genes rapidly evolved in primates at discrete sites of host-pathogen interactions. Genome Res. 2009; 19(5):850-8. PMC: 2675973. DOI: 10.1101/gr.085647.108. View

Kim S, Chin H, Na K, Kim S, Oh J, Chung W . Single nucleotide polymorphisms in the phospholipase A2 receptor gene are associated with genetic susceptibility to idiopathic membranous nephropathy. Nephron Clin Pract. 2010; 117(3):c253-8. DOI: 10.1159/000320194. View

Genovese G, Friedman D, Ross M, Lecordier L, Uzureau P, Freedman B . Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science. 2010; 329(5993):841-5. PMC: 2980843. DOI: 10.1126/science.1193032. View

Beck Jr L, Bonegio R, Lambeau G, Beck D, Powell D, Cummins T . M-type phospholipase A2 receptor as target antigen in idiopathic membranous nephropathy. N Engl J Med. 2009; 361(1):11-21. PMC: 2762083. DOI: 10.1056/NEJMoa0810457. View

Tzur S, Rosset S, Shemer R, Yudkovsky G, Selig S, Tarekegn A . 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(3):345-50. PMC: 2921485. DOI: 10.1007/s00439-010-0861-0. View

10.

Kottgen A, Hwang S, Larson M, Van Eyk J, Fu Q, Benjamin E . Uromodulin levels associate with a common UMOD variant and risk for incident CKD. J Am Soc Nephrol. 2009; 21(2):337-44. PMC: 2834540. DOI: 10.1681/ASN.2009070725. View

11.

Hakonarson H, Grant S . Genome-wide association studies in type 1 diabetes, inflammatory bowel disease and other immune-mediated disorders. Semin Immunol. 2009; 21(6):355-62. DOI: 10.1016/j.smim.2009.06.001. View

12.

Charlesworth B . Fundamental concepts in genetics: effective population size and patterns of molecular evolution and variation. Nat Rev Genet. 2009; 10(3):195-205. DOI: 10.1038/nrg2526. View

13.

Segelmark M . Genes that link nephritis to autoantibodies and innate immunity. N Engl J Med. 2011; 364(7):679-80. DOI: 10.1056/NEJMe1014144. View

14.

Hanasaki K . Mammalian phospholipase A2: phospholipase A2 receptor. Biol Pharm Bull. 2004; 27(8):1165-7. DOI: 10.1248/bpb.27.1165. View

15.

Bleyer A, Zivna M, Kmoch S . Uromodulin-associated kidney disease. Nephron Clin Pract. 2010; 118(1):c31-6. DOI: 10.1159/000320889. View

16.

Abecasis G, Altshuler D, Auton A, Brooks L, Durbin R, Gibbs R . A map of human genome variation from population-scale sequencing. Nature. 2010; 467(7319):1061-73. PMC: 3042601. DOI: 10.1038/nature09534. View

17.

Brown E, Schlondorff J, Becker D, Tsukaguchi H, Tonna S, Uscinski A . Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat Genet. 2009; 42(1):72-6. PMC: 2980844. DOI: 10.1038/ng.505. View

18.

Seaquist E, Goetz F, Rich S, Barbosa J . Familial clustering of diabetic kidney disease. Evidence for genetic susceptibility to diabetic nephropathy. N Engl J Med. 1989; 320(18):1161-5. DOI: 10.1056/NEJM198905043201801. View

19.

Gharavi A, Yan Y, Scolari F, Schena F, Frasca G, Ghiggeri G . IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23. Nat Genet. 2000; 26(3):354-7. DOI: 10.1038/81677. View

20.

Buscher A, Kranz B, Buscher R, Hildebrandt F, Dworniczak B, Pennekamp P . Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol. 2010; 5(11):2075-84. PMC: 3001773. DOI: 10.2215/CJN.01190210. View