Objective: To investigate whether single nucleotide polymorphisms (SNPs) in the 3' untranslated region (UTR) of the matrix metallopeptidase 9 gene () are associated with susceptibility to calcium oxalate stones.
Methods: A total of 428 patients with kidney stone disease (KSD) and 450 control individuals were enrolled. Three SNPs (rs20544, rs9509, and rs1056628) were genotyped, and mRNA and protein expression was determined in patients and controls. The dual luciferase reporter gene assay was conducted by transfecting HEK293 cells with miR-491-5p mimics and plasmids containing with rs1056628 AA/CC genotypes.
Results: The rs1056628 CC genotype was significantly increased in KSD patients compared with controls (CC vs AA: odds ratio [OR] = 2.279, 95% confidence interval [CI] = 1.048-4.956). The rs1056628 C allele frequency was higher in KSD patients than controls. The increased KSD risks associated with rs1056628 were more evident in individuals aged <30 years (OR = 3.504, 95% CI = 1.102-11.139) and men (OR = 2.522, 95% CI = 1.004-6.334). mRNA and protein levels of were significantly higher in KSD patients with the CC genotype than in those with the AA genotype.
Conclusion: This study demonstrates that SNP rs1056628 is associated with a significant KSD risk in Chinese Han individuals.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7756046 | PMC |
| http://dx.doi.org/10.1177/0300060520980211 | DOI Listing |
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