人类PTPRC（CD45）基因中的C77G多态性与系统性硬化症之间无关联。
No association between systemic sclerosis and C77G polymorphism in the human PTPRC (CD45) gene.
作者信息
Kirsten Holger, Blume Mechthild, Emmrich Frank, Hunzelmann Nico, Mierau Rudolf, Rzepka Rita, Vaith Peter, Witte Torsten, Melchers Inga, Ahnert Peter
机构信息
Institute of Clinical Immunology and Transfusion Medicine,University of Leipzig, Leipzig, Germany.
出版信息
J Rheumatol. 2008 Sep;35(9):1817-9. Epub 2008 Jul 15.
OBJECTIVE
The functional variant C77G (rs17612648) of PTPRC (CD45) was described to confer risk for systemic sclerosis (SSc) in German Caucasians. We analyzed this association in an independent, larger German cohort.
METHODS
We genotyped 171 cases and 179 controls. Cases were subgrouped according to sex, autoantibody profiles, or clinical subsets.
RESULTS
No association of SSc with C77G was detected in the whole dataset, in subgroups, or in combined analyses with a previous study.
CONCLUSION
The results do not confirm PTPRC C77G as a general and independent risk factor for development of SSc.
目的
PTPRC（CD45）的功能变异体C77G（rs17612648）被描述为在德国白种人中会增加系统性硬化症（SSc）的风险。我们在一个独立的、规模更大的德国队列中分析了这种关联。
方法
我们对171例患者和179例对照进行了基因分型。根据性别、自身抗体谱或临床亚组对患者进行了分组。
结果
在整个数据集中、亚组中或与先前研究的联合分析中，均未检测到SSc与C77G之间存在关联。
结论
结果不支持PTPRC C77G是SSc发生的一个普遍且独立的风险因素。
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