| 摘要: |
| ［摘要］ 目的 探讨广西壮族人群可溶性载体2家族成员9（SLC2A9）基因单核苷酸多态性（SNPs）与原发性痛风的关联性。方法 收集广西壮族人群246例原发性痛风患者和202名健康对照者的临床资料及血尿酸（UA）、空腹血糖、甘油三酯(TG)、总胆固醇（TC）、高密度脂蛋白（HDL-C）、低密度脂蛋白（LDL-C）、肌酐（Cr）、尿素氮（BUN）等实验室指标，比较两组临床及实验室指标的差异。Taqman-MGB探针法检测SLC2A9基因4个位点(rs10489070、rs734553、rs3733591、rs16890979)的基因型，比较两组基因型及等位基因分布频率。结果 痛风组的体质量指数（BMI）、TG、TC、LDL-C、Cr、UA水平显著高于对照组（P<0.05）。有痛风石的患者年龄更大，病程更长，累及关节数更多，肾结石发生率更高，TG、TC、LDL-C、Cr、UA水平更高，差异均有统计学意义（P<0.05）。rs10489070和rs3733591在痛风组与对照组基因型及等位基因分布频率差异有统计学意义（P<0.05），携带C等位基因的个体发生痛风的OR值分别为1.413（95%CI：1.009～1.980）和1.739（95%CI：1.331～2.271）。rs3733591（CC）（aOR=2.113，95%CI：1.536～3.951）、rs10489070（CC）（aOR=1.981，95%CI：1.123～3.156）是痛风发生的独立危险因素。rs3733591（CC）（aOR=2.358，95%CI：1.114～3.221）、rs10489070（CC）（aOR=2.115，95%CI：1.689～4.547）是痛风石发生的独立危险因素。结论 我国壮族人群中，SLC2A9基因的rs10489070（CC）和rs3733591（CC）基因型是痛风和痛风石的独立危险因素，但目前易感位点影响痛风发病的具体机制尚不明确，下一步需要进行相关SNPs功能的研究。 |
| 关键词: 痛风 壮族 可溶性载体2家族成员9 单核苷酸多态性 |
| DOI：10.3969/j.issn.1674-3806.2021.11.05 |
| 分类号:R 589.7 |
| 基金项目:广西卫生健康委科研课题（编号：Z2011455，Z20180761）；广西医疗卫生适宜技术开发与推广应用项目（编号：S201647） |
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| A study on correlation between SLC2A9 gene polymorphism loci and primary gout in Guangxi Zhuang population |
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HUO Xiao-cong, HUANG Xin-xiang, ZHU Xia, et al.
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Department of Rheumatology and Immunology, the People′s Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021, China
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| Abstract: |
| ［Abstract］ Objective To explore the correlation between the solute carrier family 2, member 9(SLC2A9) gene single nucleotide polymorphisms(SNPs)and primary gout in Guangxi Zhuang population. Methods A total of 246 primary gout patients in Guangxi Zhuang population and 202 healthy controls were enrolled in this study. The clinical data and laboratory indexes such as serum uric acid(UA), fasting blood glucose, serum total triglyceride(TG), serum total cholesterol(TC), high density lipoprotein cholesterol(HDL-C), low density lipoprotein cholesterol(LDL-C), serum creatinine(Cr) and blood urea nitrogen(BUN) were collected. The differences in the clinical data and laboratory indexes were compared between the two groups. The genotypes of four loci of SLC2A9 gene(rs10489070, rs734553, rs3733591, rs16890979) were detected by Taqman-MGB probe. The genotypes and allele distribution frequencies were compared between the two groups. Results The levels of body mass index(BMI), TG, TC, LDL-C, Cr and UA in the gout group were significantly higher than those in the control group(P<0.05). Compared with the patients without tophi, the patients with tophi had older age, longer course of disease, more joints involved, higher incidence of nephrolithiasis, and higher levels of TG, TC, LDL-C, Cr and UA, and there were significant differences between the two groups(P<0.05). The genotypes and frequencies of allele distributions in rs10489070 and rs3733591 were significantly different between the gout group and the control group(P<0.05). The OR value of gout in the individuals carrying the C allele was 1.413(95%CI: 1.009-1.980) and 1.739(95%CI: 1.331-2.271) respectively. rs3733591(CC)(aOR=2.113, 95%CI: 1.536-3.951), rs10489070(CC)(aOR=1.981, 95%CI: 1.123-3.156) were the independent risk factors for gout. rs3733591(CC)(aOR=2.358, 95%CI: 1.114-3.221) and rs10489070(CC)(aOR=2.115, 95%CI: 1.689-4.547) were the independent risk factors for tophus. Conclusion In the Zhuang population in China, rs10489070(CC) and rs3733591(CC) genotypes of SLC2A9 gene are the independent risk factors for gout and tophus. However, the specific mechanisms of the susceptible loci affecting the pathogenesis of gout are still unclear, and the function of related SNPs needs to be further studied. |
| Key words: Gout The Zhuang Nationality The solute carrier family 2, member 9(SLC2A9) Single nucleotide polymorphisms(SNPs) |
