Genetic Variants Involved in the Crystallization Pathway Are Associated with Calcium Nephrolithiasis in the Chinese Han Population.

ABSTRACT: A genome-wide association analysis study (GWAS) in the Japanese population identified 14 significant loci associated with nephrolithiasis. Besides 4 novel loci related to metabolic traits, the 10 remaining loci were associated with kidney or electrolyte-related traits. We aimed to replicate the association of these loci with calcium nephrolithiasis in the Chinese Han population. A case-control association analysis was conducted involving 691 calcium nephrolithiasis patients and 1008 control subjects. We were able to genotype a total of 11 single-nucleotide polymorphisms (SNPs) previously identified as being correlated with nephrolithiasis in the Japanese population. SNP rs35747824 at PDILT was related to calcium nephrolithiasis in the Chinese Han population (p = 4.346 × 10

SUBMITTER: Wang L 

PROVIDER: S-EPMC9222851 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature