系统性红斑狼疮中Toll样受体5（TLR5）和Toll样受体9（TLR9）基因多态性的关联研究
Association study of Toll-like receptor 5 (TLR5) and Toll-like receptor 9 (TLR9) polymorphisms in systemic lupus erythematosus.
作者信息
Demirci F Yesim K, Manzi Susan, Ramsey-Goldman Rosalind, Kenney Margaret, Shaw Penny S, Dunlop-Thomas Charmayne M, Kao Amy H, Rhew Elisa Y, Bontempo Franklin, Kammerer Candace, Kamboh M Ilyas
机构信息
Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA.
出版信息
J Rheumatol. 2007 Aug;34(8):1708-11. Epub 2007 May 15.
OBJECTIVE
Toll-like receptors (TLR) play an important role in both adaptive and innate immunity. Variations in TLR genes have been shown to be associated with various infectious and inflammatory diseases. We investigated the association of TLR5 (Arg392Stop, rs5744168) and TLR9 (-1237T-->C, rs5743836) single nucleotide polymorphisms (SNP) with systemic lupus erythematosus (SLE) in Caucasian American subjects.
METHODS
We performed a case-control association study and genotyped 409 Caucasian women with SLE and 509 Caucasian healthy female controls using TaqMan allelic discrimination (rs5744168) or polymerase chain reaction-restriction fragment length polymorphism analysis (rs5743836).
RESULTS
None of the 2 TLR SNP showed a statistically significant association with SLE risk in our cohort.
CONCLUSION
Our results do not indicate a major influence of these putative functional TLR SNP on the susceptibility to (or protection from) SLE.
目的
Toll样受体（TLR）在适应性免疫和先天性免疫中均发挥重要作用。TLR基因变异已被证明与多种感染性和炎症性疾病相关。我们研究了TLR5（Arg392Stop，rs5744168）和TLR9（-1237T→C，rs5743836）单核苷酸多态性（SNP）与美国白种人系统性红斑狼疮（SLE）的相关性。
方法
我们进行了一项病例对照关联研究，使用TaqMan等位基因鉴别法（rs5744168）或聚合酶链反应-限制性片段长度多态性分析（rs5743836）对409名患有SLE的白种女性和509名健康白种女性对照进行基因分型。
结果
在我们的队列中，这2个TLR SNP均未显示出与SLE风险有统计学意义的关联。
结论
我们的结果并未表明这些假定的功能性TLR SNP对SLE易感性（或对SLE的保护作用）有重大影响。
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