摘要
目的探讨蛋白酪氨酸磷酸22(PTPN22)和转录因子FOXP3基因多态性与系统性红斑狼疮(SLE)遗传易感性的关联性。方法选取2013年1~6月我院收治的系统性红斑狼疮患者80例为研究组,选取同期健康体检人员80例为对照组,对比两组研究对象的PTPN22和转录因子R3XP3基因多态性。结果 FOXP3位点基因频率在两组研究对象当中的分布存在明显区别(P<0.05);FOXP3基因-23S3C/T同-3281C/A存在连锁不平衡,-2383T/-3281A的单倍型携带者明显加大SLE发病的风险(P<0.05);PTPN2.2基因-112.3G/C位点的等位基因以及基因型分布在两组研究对象之间无明显差异(P>0.05)。结论 FOXP3基因-2383C/T的多态性同SLE发生发展之间存在显著的关联性,并且-23S3T基因可能是该病重要的遗传易感基因,同时PTPN22基因位点1S58C/1858T以及-1123G/C同SLE发病无明显关联性。
Objective To investigate the association of protein tyrosine phosphatase 22 （PTPN22） and transcription factor FOXP3 gene polymorphism with genetic susceptibility to systemic lupus erythematosus（SLE）. Methods A total of 80 patients with systemic lupus erythematosus treated in our hospital from January to June 2013 were selected as the study group. 80 healthy subjects in the same period were selected as control group. PTPN22 and FOXP3 gene polymorphism were compared between the two groups. Results There was a significant difference in the distribution of FOXP3 gene frequencies between the two groups（P〈0.05）. And there was a linkage disequilibrium between FOXP3 gene -2383C/T and -3281C/A, and -2383T/-3281A haptotype carriers significantly increased the risk of SLE onset（P〈0.05）. There was no significant difference in PTPN22 gene-l123G/C allele and genotype distribution between the two groups （P〉0.05）. Conclusion There is a significant correlation between the polymorphism of FOXP3 gene -2383C/T and the development of SLE, and the -2383T gene may be an important genetic susceptibility gene. In the meantime, there was no significant correlation between PTPN22 gene locus 1858C/1858T and -1123G/C with SLE onset.
出处
《中国现代医生》
2017年第5期1-4,F0003,共5页
China Modern Doctor
基金
浙江省宁波市第二批科技项目(2015A610179)
