26S蛋白酶体非ATP酶调节亚基13基因多态性与强直性脊柱炎的关系

Relationship between 26S proteasome non-ATPase regulatory subunit 13 gene polymorphism and ankylosing spondylitis

目的探讨26S蛋白酶体非ATP酶调节亚基13(PSMD13)基因多态性与强直性脊柱炎(AS)的关系。方法选择20例AS患者为AS组,20例健康体检者为对照组。采集所有研究对象的血液样本并提取DNA,扩增PSMD13基因rs1045288、rs28927679、rs1794108、rs1794109位点的DNA片段,分析两组间PSMD13基因不同位点等位基因和基因型分布频率。结果所有位点的基因型分布均符合哈迪-温伯格平衡定律。两组间PSMD13基因rs1045288位点的等位基因和基因型分布频率,以及rs28927679位点的等位基因分布频率比较,差异均有统计学意义(均P <0. 05);而两组PSMD13基因rs1794108位点和rs1794109位点的等位基因和基因型分布频率比较,差异均无统计学意义(均P> 0. 05)。结论 PSMD13基因rs1045288位点和rs28927679位点的多态性可能与AS发生相关。

Objective To investigate the relationship between 26S proteasome non-ATPase regulatory subunit 13（ PSMD13 ） gene polymorphism and ankylosing spondylitis（AS）. Methods Twenty patients with AS were enrolled in the AS group,and 20 healthy individuals were enrolled in the control group.The blood samples of all subjects were collected,and then the DNA samples were extracted.The DNA fragments of rs1045288,rs28927679,rs1794108,rs1794109 of PSMD13 gene were amplified.The distribution of allele and genotype frequencies of various loci of PSMD13 gene was analyzed in the two groups. Results The genotype distribution of all loci was consistent with Hardy-Weinberg′s equilibrium.There were statistically significant differences between the two groups in the distribution of allele and genotype frequencies of PSMD13-rs1045288 locus and the distribution of allele frequency of PSMD13- rs28927679 locus（all P 〈0.05）;no statistically significant difference was found between the two groups in the distribution of alleles or genotype frequency of PSMD13-rs1794108 and -rs1794109 loci（all P 〉0.05）. Conclusion The polymorphisms of PSMD13 -rs1045288 and -rs28927679 loci might be associated with the occurrence of AS.