系统性红斑狼疮患者干扰素γ受体基因多态性研究  

Polymorphisms within the interferon-γ receptor associated with sys temic lupus erythematosus

作　　者：姚煦[1] 李遇梅[1] 胡兹嘉[1] 李文忠[1] 陈志强[1] 

机构地区：[1]中国医学科学院中国协和医科大学皮肤病研究所,南京210042

出　　处：《中华医学遗传学杂志》2005年第3期320-323,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(30170863)~~

摘　　要：目的初步探讨干扰素γ受体(interferonγreceptor,IFNγR)的两个氨基酸位点Val14Met和Gln64Arg多态性与系统性红斑狼疮(systemiclupuserythematosus,SLE)的相关性。方法采用聚合酶链反应单链构象多态性和聚合酶链反应限制性片段长度多态性及DNA测序方法对94例SLE患者和80名健康对照者进行基因分型。结果IFNγR1和IFNγR2基因型与SLE易感性无显著相关(P>0.01)。其中Arg64/Arg64基因型在两组患者间的分布差异有统计学意义(P=0.047,OR=2.481,95%可信区间为0.992～6.203)。此基因型在健康对照组中的分布频数高于SLE患者组,可能是一种具有保护作用的基因型。各个基因型的分布情况和优势比显示各基因型的组合与SLE的发病无显著相关(P>0.01)。其中Val14/Val14与Arg64/Arg64基因型的组合在两组患者间的分布差异有统计学意义(P=0.047,OR=2.481,95%可信区间为0.992～6.203)。此基因型组合在健康对照组中的分布频数高于SLE患者组,故这是一种可能具有保护作用的基因型组合。结论IFNγR1和IFNγR2基因型与SLE易感性无显著相关。Objective To assess the association between pol ym orphisms within the interferon- γ receptor gene(IFN-γR) and systemic lupus e rythematosus(SLE) in Chinese people. Methods The IFN-γR genot ypes of 94 SLE patients and 80 healthy subjects were examined by the reverse tra nsc ription-polymerase chain reaction(RT-PCR)-single-strand conformation polymor phism (SSCP) method, RT-PCR-restriction fragment length polymorphism(RFLP) met h od and DNA sequencing. Results There was no statistically signi ficant difference in the IFN-γR genotype frequencies between the two groups. The IFN-γR2 Arg6 4/Arg64 genotype decreased the risk of SLE (OR=2.481, 95% CI 0.992-6.203, P =0.047). The decreased risk of the development of SLE was detected in the indiv i duals who had the combination of IFN-γR2 Arg64/Arg64 genotype and IFN-γR1 Va l14/Val14 genotype (OR=2.481, 95%CI 0.992-6.203, P=0.047). Conclusi on The IFN-γR2 Arg64/Arg64 genotype does not determine susceptibility to SLE in Chinese people, and the combination of IFN-γR2 Arg64/Arg64 genotype and IFN-γR1 Val14/Val14 genotype does not, either.

关 键 词：系统性红斑狼疮 干扰素γ受体 基因多态性 基因型 易感性 聚合酶链反应 

分 类 号：R593.241[医药卫生—内科学] R394[医药卫生—临床医学]