云南地区汉族人群PSMB8、PSMB9及TAP2基因多态性与类风湿关节炎的关联研究

Association between polymorphisms of PSMB8, PSMB9 and TAP2 genes with rheumatoid arthritis in ethnic Han Chinese from Yunnan

目的研究云南汉族人群中PSMB8、PSMB9及TAP2基因多态性与类风湿关节炎（rheumatoid arthritis，RA）的相关性。方法应用聚合酶链反应-限制性片段长度多态性法对177例RA患者及288名健康对照PSMB8基因的rs2071543、rs55745125、rs138635403位点和PSMB9基因的rs17587多态性位点进行基因分型，应用多聚酶链反应扩增阻碍系统法对TAP2基因的rs2228396多态性位点进行基因分型。计算基因型及等位基因频率。采用EpiInfo7软件计算上述多态位点在RA组及正常对照组之间的比值比（OR值）。结果rs138635403及rs17587位点的等位基因及基因型频率在RA组和对照组间差异有统计学意义（P〈0．05），其中RA组rs17587的GG基因型频率（0．672）高于对照组（0．524）（OR=1．862，95％CI：1．261～2．749）。结论云南汉族人群PSMB9基因的rs17587位点多态性与RA存在关联。

Objective To assess the association between single nucleotide polymorphisms （SNPs） of PSMBS, PSMB9 and TAP2 genes and rheumatoid arthritis （RA） in ethnic Han Chinese from Yunnan. Methods A case-control study was carried out using 177 RA patients and 288 healthy controls. Genotypes of rs2071543, rs55745125 and rs138635403 loci of PSMB8 gene, and rs17587 locus of PSMB9 gene were determined with polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）. And polymerase chain reaction amplification refractory mutation system （ARMS-PCR） was used for typing rs2228396 locus of TAP2 gene. Genotypic and allelic frequencies were calculated. An Epi Info 7 software was used to calculate the Odds Ratio （OR） of above SNPs between the two groups. Results Allelic and genotypic frequencies of rs138635403 and rs17587 loci have differed significantly between the two groups （P 〈0.05）. The frequency of GG genotype for rs17587 locus was also higher in the RA group （0. 672） compared with control group （0. 524） （OR= 1. 862, 95; CI： 1. 261-2. 749）. Conclusion Genetic polymorphisms of rs17587 appeared to be associated with RA in ethnic Han Chinese from Yunnan.