Literature DB >> 30082052

Genetics, Genomics, and Precision Medicine in End-Stage Kidney Disease.

Jeffrey B Kopp1, Cheryl A Winkler2.   

Abstract

Recent advances in genetics of renal disease have deepened our understanding of progressive kidney disease. Here, we review genetic variants that are of particular importance to progressive glomerular disease that result in end-stage kidney disease (ESKD). Some of the most striking findings relate to APOL1 genetic variants, seen exclusively in individuals of sub-Saharan African descent, that create a predisposition to particular renal disorders, including focal segmental glomerulosclerosis and arterionephrosclerosis. We also review the genetics of cardiovascular disease in ESKD and note that little work has been published on the genetics of other ESKD complications, including anemia, bone disease, and infections. Deeper understanding of the genetics of ESKD and its complications may lead to new therapies that are tailored to an individual patient's genetic profile or are discovered based on genetic approaches that identify novel pathways of renal cell injury and repair. Published by Elsevier Inc.

Entities:  

Keywords:  APOL1; apoliprotein L1; cardiovascular disease; diabetic nephropathy; dialysis survival

Mesh:

Substances:

Year:  2018        PMID: 30082052      PMCID: PMC8351533          DOI: 10.1016/j.semnephrol.2018.05.002

Source DB:  PubMed          Journal:  Semin Nephrol        ISSN: 0270-9295            Impact factor:   5.299


  50 in total

Review 1.  Progress in Defining the Genetic Basis of Diabetic Complications.

Authors:  Emma Dahlström; Niina Sandholm
Journal:  Curr Diab Rep       Date:  2017-09       Impact factor: 4.810

2.  Vasculature and kidney complications in sickle cell disease.

Authors:  Karl A Nath; Zvonimir S Katusic
Journal:  J Am Soc Nephrol       Date:  2012-03-22       Impact factor: 10.121

3.  Hemostatic Factors, APOL1 Risk Variants, and the Risk of ESRD in the Atherosclerosis Risk in Communities Study.

Authors:  Adrienne Tin; Morgan E Grams; Nisa M Maruthur; Brad C Astor; David Couper; Thomas H Mosley; Myriam Fornage; Rulan S Parekh; Josef Coresh; Wen Hong Linda Kao
Journal:  Clin J Am Soc Nephrol       Date:  2015-04-17       Impact factor: 8.237

4.  APOL1 genetic variants in focal segmental glomerulosclerosis and HIV-associated nephropathy.

Authors:  Jeffrey B Kopp; George W Nelson; Karmini Sampath; Randall C Johnson; Giulio Genovese; Ping An; David Friedman; William Briggs; Richard Dart; Stephen Korbet; Michele H Mokrzycki; Paul L Kimmel; Sophie Limou; Tejinder S Ahuja; Jeffrey S Berns; Justyna Fryc; Eric E Simon; Michael C Smith; Howard Trachtman; Donna M Michel; Jeffrey R Schelling; David Vlahov; Martin Pollak; Cheryl A Winkler
Journal:  J Am Soc Nephrol       Date:  2011-10-13       Impact factor: 10.121

5.  APOL1 variants increase risk for FSGS and HIVAN but not IgA nephropathy.

Authors:  Natalia Papeta; Krzysztof Kiryluk; Ami Patel; Roel Sterken; Nilgun Kacak; Holly J Snyder; Phil H Imus; Anand N Mhatre; Anil K Lawani; Bruce A Julian; Robert J Wyatt; Jan Novak; Christina M Wyatt; Michael J Ross; Jonathan A Winston; Mary E Klotman; David J Cohen; Gerald B Appel; Vivette D D'Agati; Paul E Klotman; Ali G Gharavi
Journal:  J Am Soc Nephrol       Date:  2011-10-13       Impact factor: 10.121

6.  Genetic variation in APOL1 associates with younger age at hemodialysis initiation.

Authors:  Zahra Kanji; Camille E Powe; Julia B Wenger; Chunmei Huang; Elizabeth Ankers; Dorothy A Sullivan; Gina Collerone; Neil R Powe; Marcello Tonelli; Ishir Bhan; Andrea J Bernhardy; Salvatore Dibartolo; David Friedman; Giulio Genovese; Martin R Pollak; Ravi Thadhani
Journal:  J Am Soc Nephrol       Date:  2011-10-13       Impact factor: 10.121

7.  Association of single-nucleotide polymorphisms in JAK3, STAT4, and STAT6 with new cardiovascular events in incident dialysis patients.

Authors:  C John Sperati; Rulan S Parekh; Yvette Berthier-Schaad; Bernard G Jaar; Laura Plantinga; Nancy Fink; Neil R Powe; Michael W Smith; Josef Coresh; W H Linda Kao
Journal:  Am J Kidney Dis       Date:  2009-03-12       Impact factor: 8.860

Review 8.  The Expanding Role of APOL1 Risk in Chronic Kidney Disease and Cardiovascular Disease.

Authors:  Michelle M Estrella; Rulan S Parekh
Journal:  Semin Nephrol       Date:  2017-11       Impact factor: 5.299

9.  Apolipoprotein L1, income and early kidney damage.

Authors:  Ruth Tamrat; Carmen A Peralta; Salman M Tajuddin; Michele K Evans; Alan B Zonderman; Deidra C Crews
Journal:  BMC Nephrol       Date:  2015-02-10       Impact factor: 2.388

Review 10.  Genetics of cardiovascular and renal complications in diabetes.

Authors:  Ronald C W Ma
Journal:  J Diabetes Investig       Date:  2015-08-26       Impact factor: 4.232

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  3 in total

1.  Alpha Globin Gene Copy Number Is Associated with Prevalent Chronic Kidney Disease and Incident End-Stage Kidney Disease among Black Americans.

Authors:  A Parker Ruhl; Neal Jeffries; Yu Yang; Rakhi P Naik; Amit Patki; Lydia H Pecker; Bryan T Mott; Neil A Zakai; Cheryl A Winkler; Jeffrey B Kopp; Leslie A Lange; Marguerite R Irvin; Orlando M Gutierrez; Mary Cushman; Hans C Ackerman
Journal:  J Am Soc Nephrol       Date:  2021-10-27       Impact factor: 10.121

Review 2.  At the Research-Clinical Interface: Returning Individual Genetic Results to Research Participants.

Authors:  Kathleen M West; Erika Blacksher; Kerri L Cavanaugh; Stephanie M Fullerton; Ebele M Umeukeje; Bessie A Young; Wylie Burke
Journal:  Clin J Am Soc Nephrol       Date:  2020-02-10       Impact factor: 8.237

3.  Frequency of ClinVar Pathogenic Variants in Chronic Kidney Disease Patients Surveyed for Return of Research Results at a Cleveland Public Hospital.

Authors:  Dana C Crawford; John Lin; Jessica N Cooke Bailey; Tyler Kinzy; John R Sedor; John F O'Toole; William S Bush
Journal:  Pac Symp Biocomput       Date:  2020
  3 in total

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