P2X7R基因rs1621388多态性与痛风易感性的关联研究

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TaqMan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（χ2=17.369，P<0.001）。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，P<0.001）。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，P<0.001）。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。

Study on the association between P2X7R gene rs1621388 polymorphism and gout susceptibility

Objective To analyze the association between Purinergic receptor P2X ligand-gated ion channel 7 (P2X7R) gene single nucleotide polymorphism of rs1621388 and gout susceptibility.Methods The typical site rs1621388 of P2X7R was determined through genetic linkage analysis.The peripheral venous blood and DNA of 114 gout patients (experimental group) and 93 hyperuricemia patients (control group) were collected,TaqMan method was used to detect P2X7R gene rs1621388 genotype of two groups,then the association between different alleles or genotypes and gout susceptibility were analyzed.Results The frequency of rs1621388 genotype AA,AG and GG was 10.5％,49.1％ and 40.4％ respectively in gout patients,3.2％,28.0％ and 68.8％ in hyperuricemia patients,the genotype distribution was significantly different in two groups (x2 =17.369,P ＜0.001).Allele A and G frequency was 35.1％ and 64.9％ in gout patients,17.2％ and 82.8％ in hyperuricemia patients.Allele A may be the susceptibility gene of gout (OR =2.601,95％ CI:1.629-4.154,P＜0.001).There was a statistically significant difference between the distribution of dominant model genotype (AA + AG vs GG) (OR =3.262,95％ CI:1.833-5.807,P ＜0.001).Conclusions P2X7R gene single nucleotide polymorphism of rs1621388 was associated with gout susceptibility.