Evaluation of Genetic Associations with Clinical Phenotypes of Kidney Stone Disease.

ABSTRACT:

Background and objective

Previous studies have reported a strong genetic contribution to kidney stone risk. This study aims to identify genetic associations of kidney stone disease within a large-scale electronic health record system.

Methods

We performed genome-wide association studies (GWASs) for nephrolithiasis from genotyped samples of 5571 cases and 83 692 controls. This analysis included a primary GWAS focused on nephrolithiasis and subsequent subgroup GWASs stratified by stone composition types. For significant risk variants, we performed association analyses with stone composition and first-time 24-h urine parameters. To assess disease severity, we investigated the associations with age at first stone diagnosis, age at first stone-related procedure, and time between

SUBMITTER: Hsi RS 

PROVIDER: S-EPMC11327546 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature