This article is more than 5 years old. Information may no longer be current.
Specific genetic variants associated with increased risk for urolithiasis
Researchers identified 14 variants at different locations in the genome that were associated with an increased risk for urolithiasis, according to a published study.
“Having a positive family history for urolithiasis is associated with more than a doubling of urolithiasis risk, and a twin study estimating the heritability of the condition to be 56% suggests a pivotal role for host genetic factors,” Chizu Tanikawa, PhD, of the University of Tokyo, and colleagues wrote. “However, previous genome-wide association studies have identified only six risk-related loci.”
To identify new genetic variants that may contribute to the risk for urolithiasis, researchers conducted a genome-wide association study of Japanese adults, 11,130 of whom had a diagnosis of urolithiasis and 187,639 who were used as controls. Researchers conducted a replication analysis for 2,289 cases of urolithiasis and 3,817 controls. In addition, based on samples from Biobank Japan, researchers examined the association of urolithiasis loci with 16 quantitative traits, which included metabolic, kidney-related and electrolyte traits.
Researchers identified nine novel loci resulting in 14 total loci that were associated with the development of urolithiasis. Of these 14 regions, 10 showed a significant association with at least one quantitative trait which, according to the researchers, suggested a common genetic basis for urolithiasis and these traits.
Four of the loci were related to metabolic traits, obesity, hypertriglyceridemia or hyperuricemia and the remaining 10 were associated with kidney or electrolyte-related traits.
After conducting a weighted genetic risk score analysis, researchers found the highest risk group (composed of the top 20%) showed an odds ratio of 1.710 to 2.130 compared with the reference group (composed of the bottom 20%).
“Our findings provide evidence that host genetic factors related to regulation of metabolic and crystallization pathways contribute to the development of urolithiasis,” the researchers wrote. “Replication analyses using independent cohorts with different ethnic backgrounds and detailed clinical information are necessary. In addition, the roles of these variations need to be evaluated by functional genomics. We hope our findings will contribute to the elucidation of the molecular pathology of urolithiasis and the implementation of personalized medical care for the disease.” – by Melissa J. Webb
Disclosures: The authors report no relevant financial disclosures.