CAJ | 학술논문

目的探讨信号传导和转录激活子4(STAT4)基因多态性与中国汉族人群系统性红斑狼疮(SLE)的相关性.方法运用焦磷酸测序的方法对SLE患者与健康对照组DNA中存在的3个单核苷酸多态性位点进行分型,并作统计学分析.结果 STAT4基因的3个单核苷酸多态性(SNP)及其构成的单倍型在患者与健康对照组间差异均有统计学意义[rs11889341:P=012 02,0R(95%CI)=1.22(1.044～1.424);m7574865:P=0.003 454,OR(95%CI)=1.25(1.076～1.451);rs8179673:P=0.004 275,OR(95%CI)=1.274(1.079～1.505)].结论 STAT4基因上ra11889341、rs7574865和rs8179673与中国汉族人群SLE的发病有关联,且STAT4是-个多种族均存在的SLE相关基因.
목적 탐토신호전도화전록격활자4(STAT4)기인다태성여중국한족인군계통성홍반랑창(SLE)적상관성.방법 운용초린산측서적방법대SLE환자여건강대조조DNA중존재적3개단핵감산다태성위점진행분형,병작통계학분석.결과 STAT4기인적3개단핵감산다태성(SNP)급기구성적단배형재환자여건강대조조간차이균유통계학의의[rs11889341:P=012 02,0R(95%CI)=1.22(1.044～1.424);m7574865:P=0.003 454,OR(95%CI)=1.25(1.076～1.451);rs8179673:P=0.004 275,OR(95%CI)=1.274(1.079～1.505)].결론 STAT4기인상ra11889341、rs7574865화rs8179673여중국한족인군SLE적발병유관련,차STAT4시-개다충족균존재적SLE상관기인.
Objective To explore the association between the signal transducer and activator of transcription 4 (STAT4) gene polymorphism and Chinese Han systemic lupus erythematosus patients. Methods Pyrosequencing technique was used to genotype the 3 single nucleotide polymorphisms (SNP) in the samples of patients and normal individuals. Results Not only these 3 SNPs, but also the haplotypes composed by them showed significant difference between the SLE patients and normal individuals[rs11889341:P=0.012 02, OR (95%CI)=1.22( 1.044～1.424); rs7574865:P=0.003 454, 0R(95%CI)=1.25(1.076～1.451 ); rs8179673: P=0.004 275, OR (95%CI)=1.274 (1.079～1.505)]. Conclusion rs11889341, rs7574865 and rs8179673 of STAT4 are associated with the pathogenesis of Chinese Han SLE, and the STAT4 gene is a susceptibile gene for SLE in a few racial cohorts.