P2X7R基因rs1621388多态性与痛风易感性的关联研究

发布时间：2018-05-17 11:25

本文选题：痛风 + 高尿酸血症　；参考：《中华疾病控制杂志》2017年07期

【摘要】：目的分析嘌呤受体P2X配体门控离子通道7(purinergic receptor P2X ligand-gated ion channel 7,P2X7R)基因多态性与痛风易感性的关联。方法通过对P2X7R基因单核苷酸多态性(single nucleotide polymorphism,SNP)位点的连锁分析,确定具有代表性的rs1621388为研究位点。提取114例痛风患者(实验组)及93例高尿酸血症患者(对照组)外周血单个核细胞DNA,采用Taq Man探针法进行rs1621388基因分型,分析不同等位基因或基因型与痛风易感性的关系。结果 rs1621388基因型AA、AG和GG在痛风组中频率分别为10.5%、49.1%和40.4%,高尿酸血症组中分别为3.2%、28.0%和68.8%,两组基因型分布差异具有统计学意义(X~2=17.369,P0.001)。等位基因A和G在痛风组中频率分别为35.1%和64.9%,高尿酸血症组分别为17.2%和82.8%;等位基因A是痛风的易感基因(OR=2.601,95%CI:1.629~4.154,P0.001)。显性模型(AA+AG vs GG)基因型频率分布在痛风和高尿酸血症组间的差异具有统计学意义(OR=3.262,95%CI:1.833~5.807,P0.001)。结论P2X7R基因单核苷酸位点rs1621388多态性与痛风易感性存在关联。
[Abstract]:Objective to investigate the association between the polymorphism of purine receptor P2X ligand gated ion channel (7(purinergic receptor P2X ligand-gated ion channel 7 p22X7R) and the susceptibility to gout. Methods the single nucleotide polymorphisms of P2X7R gene single nucleotide polymorphismSNPs were analyzed and the representative rs1621388 was identified as the study site. Peripheral blood mononuclear cell DNA was extracted from 114 patients with gout (experimental group) and 93 patients with hyperuricemia (control group). Rs1621388 genotyping was performed by Taq Man probe method. The relationship between alleles or genotypes and susceptibility to gout was analyzed. Results the frequencies of rs1621388 genotype in gout group were 10.5% and 40.4%, respectively, and those in hyperuricemia group were 3.2% and 68.8%, respectively. The difference of genotype distribution between the two groups was statistically significant. The frequencies of alleles A and G were 35.1% and 64.9% in gout group, 17.2% and 82.8% in hyperuricemia group, respectively. The frequency distribution of AA AG vs GG) genotype in dominant model was significantly different between gout and hyperuricemia groups. Conclusion rs1621388 polymorphism at single nucleotide site of P2X7R gene is associated with gout susceptibility.
【作者单位】：安徽医科大学附属省立医院风湿免疫科;安徽省第二人民医院血液风湿科;
【基金】：国家自然科学基金(81671601) 安徽省自然科学基金(1708085MH191)
【分类号】：R589.7

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