中华皮肤科杂志 ›› 2012, Vol. 45 ›› Issue (1): 38-40.

• 研究报道 • 上一篇    下一篇

基因多态性与系统性红斑狼疮的相关性研究

高婷婷1,2,宋继权1,Ahmad T.Khalaf3,余想萍4,程艳丽1,高虎1,5   

  1. 1. 武汉大学中南医院
    2. 武汉市第一医院
    3. 武汉大学人民医院皮肤科
    4. 武汉大学中南医院皮肤科
    5.
  • 收稿日期:2011-04-25 修回日期:2011-05-26 出版日期:2012-01-15 发布日期:2011-12-31
  • 通讯作者: 宋继权 E-mail:songjiquan@tom.com
  • 基金资助:

    湖北省自然科学基金资助项目

Association of TNFSF 4 gene polymorphisms with systemic lupus erythematosus

  • Received:2011-04-25 Revised:2011-05-26 Online:2012-01-15 Published:2011-12-31

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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%%，χ2 = 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%，χ2 = 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。

关键词: 系统性红斑狼疮

Abstract:

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%%, χ2 = 4.69, P < 0.05, OR = 2.182（1.068 - 4.458）; 37.8% vs. 24.0%, χ2 = 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.

Key words: SLE.