TRAIL基因多态性与系统性红斑狼疮的相关性研究  

TRAIL gene polymorphism in patients with systemic lupus erythematosus

作　　者：王丕明[1,2] 赵培庆[1] 续力云[1] 刘冰[1] 闫晓华 刘鹏[1] 高立芬[1] 

机构地区：[1]山东大学医学院免疫学研究所,济南250012 [2]武警山东总队医院检验科,济南250014 [3]山东医学高等专科学校,临沂276002

出　　处：《免疫学杂志》2010年第9期789-792,共4页Immunological Journal

基　　金：国家自然科学基金资助课题(30872298);山东大学自主创新基金资助(2009TS115)

摘　　要：目的检测肿瘤坏死因子凋亡相关诱导配体(tumor necrosis factor-related apoptosis inducing ligand,TRAIL)基因第5外显子3′-非编码区1525G/A、1595C/T位点单核苷酸多态性(single nucleotide polymorphism,SNP),探讨TRAIL基因SNPs与系统性红斑狼疮(systemic lupus erythematosus,SLE)发生的关联性。方法采用病例对照的方法,按照美国风湿病协会诊断标准,收集SLE病人167例、正常对照190例,利用聚合酶链式反应-限制性内切酶片段长度多态性(polymerase chain reaction-restric-tion fragment length polymorphism,PCR-RFLP)法检测TRAIL基因1525、1595两位点基因多态性,计算基因型及等位基因频率,进行χ2检验。结果 TRAIL基因1525G/A和1595C/T位点3种基因型1525GG/1595CC、1525GA/1595CT、1525AA/1595TT在正常对照组和SLE病例组中的分布分别为23.3%、54.6%、22.1%;35.3%、50.3%、14.4%,SLE病人组中1525/1595位点GG/CC基因型频率显著高于正常对照(χ2=7.77,P<0.025),G/C等位基因的频率显著高于正常对照组(χ2=7.12,P<0.005)。结论中国汉族人TRAIL基因第5外显子3′-UTR1525G/A、1595C/T位点多态性与SLE的发病有关,TRAIL基因1525/1595位点GG/CC基因型是SLE的易感基因型。In this paper,we aim to explore the association of tumor necrosis factor-related apoptosis inducing ligand （TRAIL） single nucleotide polymorphism （SNP） with systemic lupus erythematosus （SLE） in Chinese Han nationality from Shandong province. This study followed a case-control design. According to American Rheumatism Association diagnostic criteria,167 patients with SLE and 190 healthy controls were included. The SNPs of TRAIL gene at 1525G/A and 1595C/T were detected by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）,while genotype and allele frequencies were analyzed with Chi-square test. We found that genotype frequencies of 1525GG/1595CC,1525GA/1595CT,1525AA/1595TT were 23.3%,54.6%,22.1% in healthy controls and 35.3%,50.3%,14.4% in SLE patients respectively. Furthermore,there were significant differences in TRAIL genotype and allele frequencies between SLE patients and healthy controls. The results indicate that the presence of the GG/CC genotype of TRAIL at position 1525/1595 in exon 5 may represent a higher risk of SLE.

关 键 词：系统性红斑狼疮 肿瘤坏死因子凋亡相关诱导配体 单核苷酸多态性 PCR-RFLP 

分 类 号：R593.241[医药卫生—内科学] R392.2[医药卫生—临床医学]