Genome-Wide Association Analysis of Protein-Coding Variants in IgA Nephropathy.

ABSTRACT:

Significance statement

Genome-wide association studies have identified nearly 20 IgA nephropathy susceptibility loci. However, most nonsynonymous coding variants, particularly ones that occur rarely or at a low frequency, have not been well investigated. The authors performed a chip-based association study of IgA nephropathy in 8529 patients with the disorder and 23,224 controls. They identified a rare variant in the gene encoding vascular endothelial growth factor A (VEGFA) that was significantly associated with a two-fold increased risk of IgA nephropathy, which was further confirmed by sequencing analysis. They also identified a novel common variant in PKD1L3 that was significantly associated with lower haptoglobin protein levels. This study, which was well-powered to detect low

SUBMITTER: Li M 

PROVIDER: S-EPMC10631603 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature