中华皮肤科杂志 ›› 2011, Vol. 44 ›› Issue (10): 697-699.

• 论著 • 上一篇    下一篇

山东汉族寻常性银屑病患者eIF4E、MMP-9基因多态性研究

蔡大幸1,孙青2,马伟元1,钟华1,李春阳3   

  1. 1. 山东大学齐鲁医院皮肤科
    2. 济南山东大学齐鲁医院皮肤科
    3. 济南市山东大学齐鲁医院皮肤科
  • 收稿日期:2011-01-24 修回日期:2011-06-02 出版日期:2011-10-15 发布日期:2011-09-30
  • 通讯作者: 李春阳 E-mail:lichunyang@medmail.com.cn
  • 基金资助:

    山东省自然科学基金资助项目

Association of polymorphisms of eIF4E and MMP-9 genes with psoriasis vulgaris in Han population of Shandong province

  • Received:2011-01-24 Revised:2011-06-02 Online:2011-10-15 Published:2011-09-30

摘要:

目的 探讨真核细胞翻译起始因子(eIF4E )、基质金属蛋白酶-9(MMP-9)基因内的单核苷酸多态性与山东汉族寻常性银屑病的关系。方法 基于群体的病例对照关联分析方法,利用Taqman分型方法对188例银屑病患者及280例正常对照人群MMP-9基因内的2个位点以及eIF4E基因内的1个位点进行分析,对基因型频率及等位基因频率采用PLINK软件进行统计学分析。结果 位于MMP-9基因上游调控区域的 rs4810482等位基因T在银屑病组中的频率显著低于对照组(OR = 1.49,95% CI = 1.12 ~ 1.99,P < 0.01),在隐性与显性遗传模型分析中,差异具有统计学意义。生物信息学分析表明,该位点可能改变了转录因子的结合位点。在研究中分析的其余两个位点rs3918254和rs11723037与银屑病无相关性。结论 位于MMP-9基因上游调控区域的rs4810482与银屑病具有显著相关性,可能是银屑病的一个易感基因。

关键词: 汉族人群

Abstract:

Objective To investigate the association of eIF4E and MMP-9 gene polymorphisms with psoriasis vulgaris in Han population of Shandong province. Methods A population based case-control association study was carried out in 188 patients with psoriasis vulgaris and 280 healthy human controls of Han nationality from Shandong province. Taqman SNP genotyping assay was performed to assess three SNPs, including rs4810482 and rs3918254 in MMP-9 gene and rs11723037 in eIF4E gene. Pairwise linkage disequilibrium was evaluated by using Haploview 4.2 software, and the frequencies of alleles and genotypes were analyzed by using Plink 1.07 software. Results The frequency of rs4810482 T allele was significantly lower in patients with psoriasis vulgaris than in the normal human controls (OR = 1.49, 95% CI: 1.12 - 1.99, P < 0.01), and the significant difference still remained under recessive and dominant model. Bioinformatic analysis revealed that the rs4810482 altered the binding site of transcription factor, while no association was observed between psoriasis and either of the other two SNPs. Conclusions The SNP rs4810482 located at the upstream regulatory region of MMP-9 gene is significantly associated with psoriasis, hence, MMP-9 gene may be a susceptibility gene for psoriasis in Han population of Shandong province.

Key words: Chinese Han Population