Renal compartment–specific genetic variation analyses identify new pathways in chronic kidney disease View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-11

AUTHORS

Chengxiang Qiu, Shizheng Huang, Jihwan Park, YoSon Park, Yi-An Ko, Matthew J. Seasock, Joshua S. Bryer, Xiang-Xi Xu, Wen-Chao Song, Matthew Palmer, Jon Hill, Paolo Guarnieri, Julie Hawkins, Carine M. Boustany-Kari, Steven S. Pullen, Christopher D. Brown, Katalin Susztak

ABSTRACT

Chronic kidney disease (CKD), a condition in which the kidneys are unable to clear waste products, affects 700 million people globally. Genome-wide association studies (GWASs) have identified sequence variants for CKD; however, the biological basis of these GWAS results remains poorly understood. To address this issue, we created an expression quantitative trait loci (eQTL) atlas for the glomerular and tubular compartments of the human kidney. Through integrating the CKD GWAS with eQTL, single-cell RNA sequencing and regulatory region maps, we identified novel genes for CKD. Putative causal genes were enriched for proximal tubule expression and endolysosomal function, where DAB2, an adaptor protein in the TGF-β pathway, formed a central node. Functional experiments confirmed that reducing Dab2 expression in renal tubules protected mice from CKD. In conclusion, compartment-specific eQTL analysis is an important avenue for the identification of novel genes and cellular pathways involved in CKD development and thus potential new opportunities for its treatment. More... »

PAGES

1721-1731

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41591-018-0194-4

    DOI

    http://dx.doi.org/10.1038/s41591-018-0194-4

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1107245474

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30275566


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