# Investigation of Genomic Disorders in Chronic Kidney Disease

> **NIH NIH R21** · COLUMBIA UNIVERSITY HEALTH SCIENCES · 2021 · $202,500

## Abstract

Chronic kidney disease (CKD) is a major public health problem with adverse outcomes.
Genetics factors contribute to the etiology of CKD. Copy number variants (CNV) contribute
significantly to human genetic variation. Chromosomal microarrays (CMA) allow for the reliable
detection of submicroscopic CNV. Genomic disorders (GD) have been defined as diseases
resulting from specific rare, recurrent, pathogenic CNVs and affect multiple systems.
We have demonstrated, in pediatric CKD patients, that 1) CNV analysis can be an important
diagnostic tool for CKD, 2) GDs and their underlying CNVs were implicated in the pathogenesis
of clinically diverse forms of CKD, 3) GDs can provide a unifying explanation for the association
of renal and extra-renal manifestations, and 3) CNV analysis can help identify novel causal gene-
disease associations. In this study, we propose to investigate the contribution of CNVs to the
genetic risk of CKD in adults as well as expand our findings in pediatric patients, taking advantage
of existing CMA, WES and clinical data from 12,182 participants from national cohorts for CKD and
more than 80,000 population controls. We will identify and establish the population frequency of
CNVs in CKD patients; annotate CNVs and, following criteria adapted from the American College
of Medical Genetics, classify them according to their degree of pathogenicity; establish the burden
of known and novel GDs in CKD cases compared to controls, both in aggregate and for specific,
recurrent GDs; and examine the role of known and novel GD for the risk, complications and
comorbidities of CKD, determine associations of GD burden with clinical variables and assess the
value of individual loci for predicting the severity and/or progression of kidney disease, and renal
and extra-renal outcomes. We expect to show the usefulness of this approach to help diagnose
and inform treatment and management of CKD and its comorbidities in both adult and pediatric
patients; this study will substantially advance our understanding of the human genetic etiology and
pathogenesis of CKD, and may potentially prove more broadly relevant to human disease
associated with pathogenic copy number variants.

## Key facts

- **NIH application ID:** 10218150
- **Project number:** 5R21DK119802-03
- **Recipient organization:** COLUMBIA UNIVERSITY HEALTH SCIENCES
- **Principal Investigator:** Miguel Verbitsky
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $202,500
- **Award type:** 5
- **Project period:** 2019-09-13 → 2023-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10218150

## Citation

> US National Institutes of Health, RePORTER application 10218150, Investigation of Genomic Disorders in Chronic Kidney Disease (5R21DK119802-03). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10218150. Licensed CC0.

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