Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy.

ABSTRACT:

Background

Primary membranoproliferative GN, including complement 3 (C3) glomerulopathy, is a rare, untreatable kidney disease characterized by glomerular complement deposition. Complement gene mutations can cause familial C3 glomerulopathy, and studies have reported rare variants in complement genes in nonfamilial primary membranoproliferative GN.

Methods

We analyzed whole-genome sequence data from 165 primary membranoproliferative GN cases and 10,250 individuals without the condition (controls) as part of the National Institutes of Health Research BioResource-Rare Diseases Study. We examined copy number, rare, and common variants.

Results

Our analysis included 146 primary membranoproliferative GN cases and 6442 controls who were unrelated and of European ancestry. W

SUBMITTER: Levine AP 

PROVIDER: S-EPMC7003307 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature