Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population.

ABSTRACT:

Background

A family history of urolithiasis is associated with a more than doubling of urolithiasis risk, and a twin study estimating 56% heritability of the condition suggests a pivotal role for host genetic factors. However, previous genome-wide association studies (GWAS) have identified only six risk-related loci.

Methods

To identify novel urolithiasis-related loci in the Japanese population, we performed a large-scale GWAS of 11,130 cases and 187,639 controls, followed by a replication analysis of 2289 cases and 3817 controls. Diagnosis of urolithiasis was confirmed either by a clinician or using medical records or self-report. We also assessed the association of urolithiasis loci with 16 quantitative traits, including metabolic, kidney-related, and electrolyte traits (s

SUBMITTER: Tanikawa C 

PROVIDER: S-EPMC6493984 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature