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Genome-Wide Study Updates in the International Genetics and Translational Research in Transplantation Network (iGeneTRAiN).

Fishman, Claire E and Mohebnasab, Maede and van Setten, Jessica and Zanoni, Francesca and Wang, Chen and Deaglio, Silvia and Amoroso, Antonio and Callans, Lauren and van Gelder, Teun and Lee, Sangho and Kiryluk, Krzysztof and Lanktree, Matthew B and Keating, Brendan J (2019) Genome-Wide Study Updates in the International Genetics and Translational Research in Transplantation Network (iGeneTRAiN). Front Genet, 10. 1084 - ?. ISSN 1664-8021

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Abstract

The prevalence of end-stage renal disease (ESRD) and the number of kidney transplants performed continues to rise every year, straining the procurement of deceased and living kidney allografts and health systems. Genome-wide genotyping and sequencing of diseased populations have uncovered genetic contributors in substantial proportions of ESRD patients. A number of these discoveries are beginning to be utilized in risk stratification and clinical management of patients. Specifically, genetics can provide insight into the primary cause of chronic kidney disease (CKD), the risk of progression to ESRD, and post-transplant outcomes, including various forms of allograft rejection. The International Genetics & Translational Research in Transplantation Network (iGeneTRAiN), is a multi-site consortium that encompasses >45 genetic studies with genome-wide genotyping from over 51,000 transplant samples, including genome-wide data from >30 kidney transplant cohorts (n = 28,015). iGeneTRAiN is statistically powered to capture both rare and common genetic contributions to ESRD and post-transplant outcomes. The primary cause of ESRD is often difficult to ascertain, especially where formal biopsy diagnosis is not performed, and is unavailable in ∼2% to >20% of kidney transplant recipients in iGeneTRAiN studies. We overview our current copy number variant (CNV) screening approaches from genome-wide genotyping datasets in iGeneTRAiN, in attempts to discover and validate genetic contributors to CKD and ESRD. Greater aggregation and analyses of well phenotyped patients with genome-wide datasets will undoubtedly yield insights into the underlying pathophysiological mechanisms of CKD, leading the way to improved diagnostic precision in nephrology.

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Details

Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Fishman, Claire E
Mohebnasab, MaedeMAM1236@pitt.eduMAM12360000-0001-6623-9514
van Setten, Jessica
Zanoni, Francesca
Wang, Chen
Deaglio, Silvia
Amoroso, Antonio
Callans, Lauren
van Gelder, Teun
Lee, Sangho
Kiryluk, Krzysztof
Lanktree, Matthew B
Keating, Brendan J
Date: 9 October 2019
Date Type: Acceptance
Journal or Publication Title: Front Genet
Volume: 10
Page Range: 1084 - ?
DOI or Unique Handle: 10.3389/fgene.2019.01084
Schools and Programs: School of Medicine > Pathology
Refereed: Yes
Uncontrolled Keywords: GWAS, genomics, kidney disease, whole exome sequencing analyses, whole genome sequencing
ISSN: 1664-8021
Date Deposited: 29 Aug 2022 17:11
Last Modified: 06 Sep 2022 13:55
URI: http://d-scholarship.pitt.edu/id/eprint/43673

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