Unravelling the complex genetics of common kidney diseases: from variants to mechanisms.

ABSTRACT: Genome-wide association studies (GWAS) have identified hundreds of loci associated with kidney-related traits such as glomerular filtration rate, albuminuria, hypertension, electrolyte and metabolite levels. However, these impressive, large-scale mapping approaches have not always translated into an improved understanding of disease or development of novel therapeutics. GWAS have several important limitations. Nearly all disease-associated risk loci are located in the non-coding region of the genome and therefore, their target genes, affected cell types and regulatory mechanisms remain unknown. Genome-scale approaches can be used to identify associations between DNA sequence variants and changes in gene expression (quantified through bulk and single-cell methods), gene regulation and other

SUBMITTER: Sullivan KM 

PROVIDER: S-EPMC8014547 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature