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 language||English (US)|
|Number of pages||13|
|Journal||Clinical Journal of the American Society of Nephrology|
|State||Published - Jul 2020|
ASJC Scopus subject areas
- Critical Care and Intensive Care Medicine