Complexities of understanding function from CKD-associated DNA variants

Jennie Lin*, Katalin Susztak

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Genome-wide association studies (GWASs) have facilitated the unbiased discovery of hundreds of genomic loci associated with CKD and kidney function. The vast majority of disease-associated DNA variants are noncoding. Those that are causal in CKD pathogenesis likely modulate transcription of target genes in a cell type–specific manner. To gain novel biological insights into mechanisms driving the development of CKD, the causal variants (which are usually not the most significant variant reported in a GWAS), their target genes, and causal cell types need to be identified. This functional validation requires a large number of new data sets, complex bioinformatics analyses, andexperimental cellular and in vivo studies.Here,wereviewthe basic principles andsome of the current approaches being leveraged to assign functional significance to a genotype–phenotype association.

Original languageEnglish (US)
Pages (from-to)1028-1040
Number of pages13
JournalClinical Journal of the American Society of Nephrology
Issue number7
StatePublished - Jul 2020

ASJC Scopus subject areas

  • Critical Care and Intensive Care Medicine
  • Nephrology
  • Transplantation
  • Epidemiology


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