A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis

The Journal of Clinical Investigation
Haiyang YuAndrey S Shaw

Abstract

Focal segmental glomerulosclerosis (FSGS) is a syndrome that involves kidney podocyte dysfunction and causes chronic kidney disease. Multiple factors including chemical toxicity, inflammation, and infection underlie FSGS; however, highly penetrant disease genes have been identified in a small fraction of patients with a family history of FSGS. Variants of apolipoprotein L1 (APOL1) have been linked to FSGS in African Americans with HIV or hypertension, supporting the proposal that genetic factors enhance FSGS susceptibility. Here, we used sequencing to investigate whether genetics plays a role in the majority of FSGS cases that are identified as primary or sporadic FSGS and have no known cause. Given the limited number of biopsy-proven cases with ethnically matched controls, we devised an analytic strategy to identify and rank potential candidate genes and used an animal model for validation. Nine candidate FSGS susceptibility genes were identified in our patient cohort, and three were validated using a high-throughput mouse method that we developed. Specifically, we introduced a podocyte-specific, doxycycline-inducible transactivator into a murine embryonic stem cell line with an FSGS-susceptible genetic background that allows ...Continue Reading

References

Nov 22, 2002·Journal of the American Society of Nephrology : JASN·Martin R Pollak
Apr 22, 2003·Seminars in Nephrology·Martin R Pollak
Aug 21, 2003·Proceedings of the National Academy of Sciences of the United States of America·Thomas DellerPeter Mundel
Sep 6, 2005·Proceedings of the National Academy of Sciences of the United States of America·Frank StegmeierStephen J Elledge
Jan 10, 2006·Genesis : the Journal of Genetics and Development·Caroline BeardRudolf Jaenisch
Dec 26, 2006·Nature Biotechnology·William T PoueymirouDavid M Valenzuela
Aug 24, 2007·Kidney International·M M LöwikL P van den Heuvel
Sep 4, 2007·Developmental Cell·Tamilla NechiporukValeri Vasioukhin
Oct 19, 2007·Journal of the American Society of Nephrology : JASN·Konstantinos VoskaridesConstantinos Deltas
Sep 17, 2008·Nature Genetics·W H Linda KaoUNKNOWN Family Investigation of Nephropathy and Diabetes Research Group
Sep 17, 2008·Nature Genetics·Jeffrey B KoppCheryl A Winkler
Nov 8, 2008·Science·David AltshulerEric S Lander
Nov 14, 2008·Journal of the American Society of Nephrology : JASN·Mira KrendelMark S Mooseker
Jan 10, 2009·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Maddalena GiganteLoreto Gesualdo
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
Dec 22, 2009·Nature Genetics·Elizabeth J BrownMartin R Pollak
May 18, 2010·American Journal of Human Genetics·Alkes L PriceShamil R Sunyaev
May 19, 2010·Nature Reviews. Genetics·Elizabeth T Cirulli, David B Goldstein
Aug 20, 2010·Nephron. Experimental Nephrology·Xiangjun XuKarl Tryggvason
Mar 17, 2011·PLoS Genetics·Benjamin M NealeMark J Daly
Sep 21, 2011·PloS One·Eric W BrunskillS Steven Potter
Oct 15, 2011·Journal of the American Society of Nephrology : JASN·Jeffrey B KoppCheryl A Winkler
Oct 15, 2011·Journal of the American Society of Nephrology : JASN·David J FriedmanMartin R Pollak
Nov 8, 2011·Annual Review of Physiology·Anna Greka, Peter Mundel
Dec 23, 2011·The New England Journal of Medicine·Vivette D D'AgatiRonald J Falk
Feb 16, 2012·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Ilse M RoodJack F M Wetzels
Mar 24, 2012·Journal of the American Society of Nephrology : JASN·Weibin Zhou, Friedhelm Hildebrandt
Feb 1, 2013·Kidney International·Melanie BoerriesTobias B Huber
Jul 23, 2013·The Journal of Clinical Investigation·Heon Yung GeeFriedhelm Hildebrandt
Sep 21, 2013·Journal of the American Society of Nephrology : JASN·Larysa WickmanRoger C Wiggins
Sep 26, 2013·Molecular and Cellular Biology·Haiyang YuShreeram Akilesh

❮ Previous
Next ❯

Citations

Jun 14, 2016·BioMed Research International·Anne Katrin Dettmar, Jun Oh
Aug 31, 2016·Nature Reviews. Nephrology·Luca PericoGiuseppe Remuzzi
Jan 20, 2017·Nature Reviews. Nephrology·Kirsten Y Renkema, Nine V A M Knoers
Oct 13, 2018·Experimental Physiology·Beverly GiamNiwanthi W Rajapakse
Aug 26, 2018·Journal of the American Society of Nephrology : JASN·Yiqing GuoSandeep K Mallipattu
Mar 8, 2016·Nature Reviews. Nephrology·Jessica K Edwards
May 23, 2019·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·Jianyong ZhongAgnes B Fogo
Jul 2, 2017·Clinical Science·Maria Dolores Sanchez-NiñoAlberto Ortiz
Jun 30, 2019·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Erol Demir, Yasar Caliskan
Sep 27, 2018·Frontiers in Medicine·Samuel Mon-Wei YuBelinda Jim
Nov 15, 2019·F1000Research·Moin A Saleem, Gavin I Welsh
Jan 13, 2018·Journal of the American Society of Nephrology : JASN·An S De VrieseFernando C Fervenza
Jan 15, 2021·The Journal of Clinical Investigation·Eriene-Heidi SidhomAnna Greka
Apr 3, 2021·Journal of the American Society of Nephrology : JASN·Michael Mysh, John S Poulton
May 25, 2021·American Journal of Physiology. Renal Physiology·Liang NingJeffrey H Miner
Nov 14, 2018·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Laura H MarianiUNKNOWN CureGN Consortium

❮ Previous
Next ❯

Datasets Mentioned

BETA
SRP067711

Methods Mentioned

BETA
biopsy
electron microscopy
PCA
transgenic
Illumina sequencing
PCR
ELISA

Software Mentioned

Picard
PLINK
Eigenstrat
GATK
SEQ
BWA

Related Concepts

Related Feeds

Basement Membranes

Basement membranes are thin, specialized extracellular matrices surrounding most tissues in all metazoans. Here is the latest research on basement membranes.

Related Papers

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association
Tri Q NguyenLambert P van den Heuvel
Giornale italiano di nefrologia : organo ufficiale della Società italiana di nefrologia
Carmelita Marcantoni
© 2022 Meta ULC. All rights reserved