IRF5、TLR-9基因多态性与山东汉族人群系统性红斑狼疮的相关性研究  

Relationship between polymorphism sites of IRF5, TLR-9 and SLE patients in Shandong Han population

作　　者：宋卫青[1] 李化会[1] 陈华波[1] 原江水[1] 殷晓婕[1] 

机构地区：[1]山东省青岛市市立医院检验科,266011

出　　处：《中华医学杂志》2009年第43期3038-3042,共5页National Medical Journal of China

基　　金：青岛市科技局重点课题资助（05-1-NS-77）

摘　　要：目的研究山东地区汉族人群干扰素调节因子5（IRF5）基因rs2004640、rs10954213及Toll样受体-9（TLR-9）基因rs187084、rs352139的单核苷酸多态性，探讨其与系统性红斑狼疮（SLE）易感性之间的关系。方法采用聚合酶链反应和限制性片段长度多态性等方法对92例SLE患者和88名健康对照IRF5基因rs2004640G／T、rs10954213G／A及TLR-9基因rs187084C／T、rs352139A／G的多态性进行分析，计算基因型和等位基因频率。结果（1）SLE患者IRF5 rs2004640GG、GT、TF基因型频率分别是0．198、0．521和0．281，与对照组比较差异有统计学意义（，=8．73，P〈0．05）；SLE患者IRF5 rs109542130GG、GA、AA基因型频率分别是0．318、0．409和0．273，与对照组间比较差异有统计学意义（X^2=6．36，P〈0．05）。（2）SLE患者TLR-9 rs187084CC、CT、Tr基因型频率分别是0．185、0．413和0．402，与对照组比较差异无统计学意义（X^2=2．99，P〉0．05）；SLE患者TLR-9基因rs352139AA、AG、GG基因型频率分别是0．228、0．533和0．239，与对照组比较差异无统计学差异（X^2=4．54，P〉0．05）。结论山东汉族人群IRF5基因位点rs2004640、rs10954213的多态性，可能与山东地区汉族人群SLE的易感性有关，而TLR-9基因rs187084、rs352139多态性与山东汉族人群SLE的易感性与无关。Objective To investigate two single nucleotide polymorphism sites of IRF5 and TLR-9 and to detect their relationship with SLE （systemic lupus erytbematosus） in a Han population from Shandong province. Methods The polymorphisms of rs2004640 G/T, rs10954213 G/A in IRF-5 and rs187084C/T, rs352139A/G in TLR-9 were detected with PCR-RFLP in 92 cases of SLE and 88 healthy controls. The genotype and allele frequencies were calculated and analyzed. Results （ 1 ） The genotype frequencies of GG, GT and TT in rs2004640 site in SLE were 0. 198, 0. 521 and O. 281 respectively. The difference was significant between SLE and controls （X^2 = 8.73, P 〈 0. 05 ） ; the genotype frequencies of GG, GA and AA at rs109542130 site in SLE were 0. 318, 0. 409 and 0. 273 respectively. The difference was significant between SLE and controls （X^2 = 6. 36, P 〈 0. 05）. （2） The genotype frequencies of CC, CT and TT at rs187084 site in SLE were 0. 185, 0. 413 and 0. 402 respectively. There was no difference between SLE and controls （X^2 =2. 99, P 〉0. 05） ; the genotype frequencies of AA, AG and GG at rs352139 site in SLE were 0. 228, 0. 533 and 0. 239 respectively. There was no difference between SLE and controls （X^2 = 4. 54, P 〉 0.05）. Conclusion The polymorphism of rs2004640 and rs10954213 in IRF5 may be associated with SLE in the population of Han nationality from Shandong province. However, the polymorphism of rs187084 and rs352139 in TLR-9 is not associated with SLE.

关 键 词：系统性红斑狼疮 干扰素凋节因子5 TOLL样受体-9 单核苷酸多态性 

分 类 号：R686[医药卫生—骨科学]