Department of Urology, Danyang People's Hospital, Danyang, Jiangsu, P.R. China.
Department of Anaesthesiology, Huai'an Second People's Hospital and The Affiliated Huai'an Hospital of Xuzhou Medical University, Jiangsu, P.R. China.
J Int Med Res. 2020 Dec;48(12):300060520980211. doi: 10.1177/0300060520980211.
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.
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.
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.
This study demonstrates that SNP rs1056628 is associated with a significant KSD risk in Chinese Han individuals.
探讨基质金属蛋白酶 9 基因（）3'非翻译区（UTR）单核苷酸多态性（SNP）是否与草酸钙结石易感性相关。
共纳入 428 例肾结石病（KSD）患者和 450 例对照者。对 3 个 SNP（rs20544、rs9509 和 rs1056628）进行基因分型，并在患者和对照者中测定 mRNA 和蛋白表达。通过转染 miR-491-5p 模拟物和含有 rs1056628 AA/CC 基因型的质粒，用双荧光素酶报告基因检测法检测 HEK293 细胞中的情况。
与对照组相比，KSD 患者 rs1056628 CC 基因型明显增加（CC 与 AA：比值比 [OR] = 2.279，95%置信区间 [CI] = 1.048-4.956）。KSD 患者 rs1056628 C 等位基因频率高于对照组。与 rs1056628 相关的 KSD 风险增加在年龄<30 岁的个体（OR = 3.504，95% CI = 1.102-11.139）和男性（OR = 2.522，95% CI = 1.004-6.334）中更为明显。CC 基因型 KSD 患者的 mRNA 和蛋白水平明显高于 AA 基因型。
本研究表明， SNP rs1056628 与中国汉族人群的 KSD 风险显著相关。
