PDZ蛋白激酶1基因rs1967017位点单核苷酸多态性与

Polymorphisms in PDZ protein kinase 1 are associated with gout phenotype gout in Shandong Chinese Han males

目的PDZ蛋白激酶1（PDZK1）rs1967017位点多态性与山东地区汉族男性群体原发性痛风遗传易感性的关系。方法采用PCR技术进行目的片段的扩增，基因测序仪进行DNA测序，对山东地区552例男性原发性痛风患者与976名男性对照的rs1967017 C/T位点进行基因分型，数据分析采用χ2检验和t检验。采用Hardy-Weinberg检验确认样本的群体代表性。结果T和C等位基因在2组中所占比例分别为89.9%，10.1%；85.9%，14.1%；T等位基因在痛风组的频率高于对照组（χ2=10.397，P〈0.05），相对风险（OR）为1.468。CC、CT和TT基因型在2组中分布分别为1.3%，17.6%和81.1%及1.6%，24.9%和73.5%，TT基因型在痛风组的频率高于对照组（χ2=11.530，P〈0.01），OR为1.556。 结论PDZK1 rs1967017C/T位点基因多态性与山东地区汉族男性人群中原发性痛风有关联，而等位基因T可能为痛风发病的风险因子。

ObjectiveTo identify whether rs1967017 near PDZ protein kinase 1（PDZK1） is associ-ation with gout in Chinese Han males.MethodsA total of 552 gout patients and 976 healthy controls were recruited to this study. PDZK1 rs1967017 C/T was genotyped by polymerase chain reaction （PCR）. Chi-square test and t test were used to compare the differences between the two groups. The representativeness of samples was verified by Hardy-Weinberg.ResultsThe proportion of C and T alleles in the two groups were 89.9%, 10.1%, 85.9%, and 14.1% respectively. The frequency of T allele was significantly higher than that of the controls （P〈0.05） and the relative risk （OR） of this allele for gout was 1.468. Differences in the two groups of CC, CT and TT genotype was statistically significant, the ratio was 1.2%, 17.5% and 81.1% and 1.6%, 24.8% and 73.4%. TT genotype at frequencies of gout was higher than healthy control group （P〈0.01）, people carrying the TT genotype was 1.556 times higher than other genotypes in suffering from gout.ConclusionThis study has demonstrated that the polymorphism of rs1967017 C/T in PDZK1 gene is associated with gout in Shandong Han male population, and T allele may be a risk factor for gout.