TNFSF4基因多态性与系统性红斑狼疮的相关性研究  

Association of TNFSF 4 gene polymorphisms with systemic lupus erythematosus

作　　者：高婷婷[1] 宋继权[1] AhmadT．Khalaf 余想萍[1] 程艳丽[1] 高虎[1] 

机构地区：[1]武汉大学中南医院皮肤科,430071

出　　处：《中华皮肤科杂志》2012年第1期38-40,共3页Chinese Journal of Dermatology

基　　金：基金项目：湖北省科技研究与开发项目（2009）

摘　　要：目的 探讨湖北汉族人群OX40配体蛋白基因rs844648位点和rs3850641位点基因多态性与SLE的相关性.方法 SLE患者82例和正常人对照组100例,采用PCR及限制性片段长度多态性方法（PCR-RFLP）检测TNFSF4基因rs844648和rs3850641位点多态性分布.结果 ①SLE组rs844648位点AA、AG和GG基因型频率分别为20.7％、62.2％、17.1％,正常人对照组为14.0％、55.0％、31.0％.SLE组rs844648多态性位点A等位基因携带者显著高于正常人对照组[73.2％比69.0％％,x2=4.69,P＜0.05,OR值=2.182（ 1.068～ 4.458）],SLE组与正常人对照组间差异有统计学意义；②SNP位点rs3850641的正常人对照组AA、AG和GG基因型频率分别是76.0％、21.0％和3.0％,而SLE组分别为62.2％、31.7％和6.1％,SLE组rs3850641位点G等位基因携带者显著高于正常人对照组[37.8％比24.0％,x2=4.07,P＜0.05,OR值=1.925 （1.015 ～ 3.651）],SLE组与正常人对照组间差异有统计学意义.结论 TNFSF4基因rs844648和rs3850641位点存在单核苷酸多态性变异,该多态性与湖北地区汉族人群SLE的发病有相关性.Objective To investigate the association of two single nucleotide polymorphisms （SNPs）,rs844648 and rs3850641,in OX40L （TNFSF4） gene,with systemic lupus erythematosus（SLE） in Hubei Han populations.Methods A total of 82 patients with SLE and 100 normal human controls were eligible for this study.Blood samples were obtained from these subjects and DNA was extracted from these samples.PCR-restriction fragment length polymorphism （PCR-RFLP） was used to analyze the genotype of SNPs rs844648 and rs3850641.Results The frequency of AA,AG and GG genotype of the SNP rs844648 was 14.0%,55.0%and 31.0% respectively in the controls,20.7%,62.2% and 17.1% respectively in the patients.A higher frequency was observed for A allele at the SNP rs844648 and G allele at the SNP rs3850641 in patients compared with the normal controls [73.2% vs.69.0%%,x2 =4.69,P 〈 0.05,OR =2.182 （1.068 - 4.458）;37.8% vs.24.0%,x2 =4.07,P 〈 0.05,OR =1.925 （1.015 - 3.651）].The frequency of AA,AG and GG genotype of SNP rs3850641 was 76.0%,21.0% and 3.0% respectively in the normal controls,62.2%,31.7% and 6.1% respectively in the patients.Conclusions There are polymorphisms in the SNPs rs844648 and rs3850641 in TNFSF4 gene,which may be associated with the development of SLE.

关 键 词：基因多态性 系统性红斑狼疮 相关性 TNFSF4基因 限制性片段长度多态性 SLE患者 基因型频率 基因携带者 

分 类 号：R593.241[医药卫生—内科学]