Kelley James, Johnson Martin R, Alarcón Graciela S, Kimberly Robert P, Edberg Jeffrey C
The University of Alabama at Birmingham, AL 35294, USA.
Arthritis Rheum. 2007 Oct;56(10):3375-8. doi: 10.1002/art.22916.
To determine whether there is an increase in the number of TLR7 gene copies in patients diagnosed as having systemic lupus erythematosus (SLE) and whether gene amplification influences the autoantibody profiles in SLE patients, as has recently been reported in the BXSB/Yaa mouse model of lupus.
We used a modified real-time quantitative polymerase chain reaction protocol to calculate the relative TLR7 gene copy number according to the comparative 2(-DeltaDeltaC(t) ) method in 99 SLE patients and 91 healthy controls matched for sex and ethnicity. Autoantibody profiles were determined by standard methods.
The relative number of TLR7 gene copies in SLE patients and healthy controls varied; however, no significant concordance between the number of relative gene copies and the SLE phenotype was found. There was also no difference in variation by ethnic group. Comparison of the relative gene copy numbers according to the presence or absence of antinuclear antibodies (ANAs), the ANA staining patterns, and the presence or absence of anti-RNA-associated antigen antibody showed no statistically significant difference in the SLE patients.
We determined that although the relative gene copy number of TLR7 varied in both SLE patients and healthy controls, it was not significantly increased among our SLE patients as compared with our controls. We found no detectable trend for an association between the relative gene copy number and the autoantibody profile in SLE patients.
确定在诊断为系统性红斑狼疮（SLE）的患者中Toll样受体7（TLR7）基因拷贝数是否增加，以及基因扩增是否会影响SLE患者的自身抗体谱，正如最近在狼疮的BXSB/Yaa小鼠模型中所报道的那样。
我们使用改良的实时定量聚合酶链反应方案，根据比较2^(-ΔΔC(t))方法计算99例SLE患者和91例性别和种族匹配的健康对照者的相对TLR7基因拷贝数。通过标准方法测定自身抗体谱。
SLE患者和健康对照者中TLR7基因拷贝数的相对数量有所不同；然而，未发现相对基因拷贝数与SLE表型之间存在显著一致性。不同种族群体之间的变异也没有差异。根据抗核抗体（ANA）的有无、ANA染色模式以及抗RNA相关抗原抗体的有无对相对基因拷贝数进行比较，结果显示SLE患者之间无统计学显著差异。
我们确定，虽然SLE患者和健康对照者中TLR7的相对基因拷贝数均有变化，但与我们的对照相比，我们的SLE患者中TLR7相对基因拷贝数并未显著增加。我们未发现SLE患者中相对基因拷贝数与自身抗体谱之间存在可检测到的关联趋势。
