Exome-Based Rare-Variant Analyses in CKD.

ABSTRACT:

Background

Studies have identified many common genetic associations that influence renal function and all-cause CKD, but these explain only a small fraction of variance in these traits. The contribution of rare variants has not been systematically examined.

Methods

We performed exome sequencing of 3150 individuals, who collectively encompassed diverse CKD subtypes, and 9563 controls. To detect causal genes and evaluate the contribution of rare variants we used collapsing analysis, in which we compared the proportion of cases and controls carrying rare variants per gene.

Results

The analyses captured five established monogenic causes of CKD: variants in PKD1, PKD2, and COL4A5 achieved study-wide significance, and we observed suggestive case enrichm

SUBMITTER: Cameron-Christie S 

PROVIDER: S-EPMC6551770 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature