目的: 研究云南地区结核病患者人尿酸盐转运蛋白 1（human urate transporter 1,hURAT-1）基因单核苷酸多态性（single-nucleotide polymorphism,SNP）与吡嗪酰胺导致高尿酸血症的易感性。方法: 选取医院 2019 年 1 月—2021 年 3 月住院治疗服用吡嗪酰胺导致高尿酸血症的结核患者 294 例作为病例组,另选取服用吡嗪酰胺未导致高尿酸血症结核患者 220 例作为对照组;采用 MassArray 基因分型技术检测的 hURAT1 基因 SNP 位点的分型情况,分析 hURAT1 的 SNP 与吡嗪酰胺导致高尿酸血症的相关性。结果: hURAT1 基因中 rs11231825 各基因型（TT、CT、CC）位点的频率分布,在 2 组间差异具有统计学意义（P<0.01）;病例组 rs11231825 位点突变型等位点基因中 C 位点的频率明显低于对照组（P<0.01）;2 组 rs2022048 位点中各基因型及等位点基因中的频率分布基本接近（P>0.05）。结论: 结核病患者 hURAT1 基因rs11231825 与吡嗪酰胺导致高尿酸血症的发生风险可能相关,突变型等位点基因中 C 位点可能是吡嗪酰胺导致高尿酸血症的保护性等位点基因。
Abstract
Objective: To study the correlation between single-nucleotide polymorphism (SNP) of human urate transporter 1 (hURAT-1) gene and hyperuricemia caused by pyrazinamide in patients with tuberculosis in Yunnan. Methods: 294 cases of tuberculosis patients with hyperuricemia caused by pyrazinamide were selected as the case group (from January 2019 to March 2021), and 220 cases of tuberculosis patients without hyperuricemia caused by pyrazinamide were selected (the same year) as the control group. The SNP typing of hURAT1 gene was analyzed by MassArray technique, and the correlation between hURAT1 SNPs and pyrazinamide induced hyperuricemia was analyzed. Results: The frequency distribution of hURAT1 gene rs11231825 genotypes ( TT, CT, CC ) was statistically significant between the two groups (P<0.01). The mutation allele C frequency of rs11231825 in case group was significantly lower than that in control group (P<0.01). The frequencies of genotypes and alleles at rs2022048 locus in the two groups were basically similar, and the difference was not statistically significant (P>0.05). Conclusion: hURAT1 gene rs11231825 in tuberculosis patients may be related to the risk of hyperuricemia caused by pyrazinamide, and mutant allele C may be the protective allele of hyperuricemia caused by pyrazinamide.
关键词
人尿酸盐转运蛋白 1 /
单核苷酸多态性 /
吡嗪酰胺 /
高尿酸血症
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Key words
hURAT1 /
single-nucleotide polymorphism /
pyrazinamide /
hyperuricemia
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参考文献
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脚注
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基金
*1云南省教育厅科学研究基金项目（编号：2021J0381）; 昆明市科技计划项目（编号：2019-1-S-25318000001154）
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