云南汉族女性类风湿关节炎及系统性红斑狼疮中β型蛋白酶体亚单位的基因多态性  

Association of the PSMB8 and PSMB9 genes polymorphisms with rheumatoid arthritis and systemic lupus erythematosus in Han Chinese female in Yunnan province

作　　者：于亮[1] 李芹[2] 林俊[2] 马莎[2] 陈婷婷[1] 黄小琴[1] 褚嘉祐[1] 杨昭庆[1] 

机构地区：[1] 中国医学科学院北京协和医学院医学生物学研究所遗传室,昆明650118 [2] 云南省第一人民医院风湿免疫科

出　　处：《中华风湿病学杂志》2014年第11期730-733,共4页Chinese Journal of Rheumatology

基　　金：国家高技术研究发展计划（863）项目（2012AA021802）

摘　　要：目的 研究PSMB8、PSMB9基因单核苷酸多态性（SNP）与云南地区汉族女性RA及SLE的相关性.方法 应用PCR-限制性片段长度多态性方法（RFLP）对209例RA患者、178例SLE女性患者及216名健康女性对照PSMB8基因的rs2071543位点和PSMB9基因的rs17587位点进行基因分型.使用SHEsis软件计算各位点基因型及等位基因频率,计算2个SNPs间的连锁强度并进行单倍型分析.组间差异比较用χ2检验.结果 rs17587的基因型GG的频率在RA组（0.646）和SLE组（0.635）中均高于对照组（0.533）,差异有统计学意义（χ2=5.652,P=0.017;χ2=4.199,P=0.040）.rs2071543-rs17587构建的单倍型中C-A型的频率RA组（0.201）低于对照组（0.264）,差异有统计学意义（χ2=4.495,P=0.034）.结论 云南地区汉族女性中PSMB9基因的rs17587多态性可能与RA及SLE存在相关.Objective To study the association between single nucleotide polymorphisms （SNPs） of PSMB8 and PSMB9 genes with rheumatoid arthritis （RA） and systemic lupus erythematosus （SLE） in Han Chinese female from Yunnan.Methods A case-control study was carried out including 209 female RA patients,178 female SLE patients and 216 healthy female controls.Genotypes of rs2071543 loci of PSMB8 gene,and rs17587 loci of PSMB9 gene were determined with polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）.SHEsis software was used to calculate the genotypic and allelic frequencies,construct haplotype,and also to calculate the linkage disequilibrium between the two SNPs.χ2 test was used for statistical analysis.Results Genotypic frequencies of GG of rs17587 locus were significantly higher in the RA group （0.646） and SLE group （0.635） compared with the control group （0.533） （χ2=5.652,P=0.017; χ2=4.199,P=0.040）.The hap-lotype C （rs2071543）-A （rs17587） frequency was significantly lower in the RA group （0.201） compared with the control group （0.264） （χ2=4.495,P=0.034）.Conclusion Genetic polymorphism of rs17587 maybe asso-ciated with both RA and SLE in femke Han Chinese from Yunnan.

关 键 词：关节炎 类风湿 红斑狼疮 系统性 PSMB基因 单倍型 

分 类 号：R593.22[医药卫生—内科学] R593.241[医药卫生—临床医学]