基础医学与临床 ›› 2007, Vol. 27 ›› Issue (8): 914-917.

• 研究论文 • 上一篇    下一篇

环氧化酶-2功能性遗传变异与子宫内膜异位症遗传易感性的关系

曲银娥 王毅峰 杨梅   

  1. 华北煤炭医学院组胚教研室 唐山市工人医院妇产科 河北大学医学部
  • 收稿日期:2007-01-29 修回日期:2007-03-27 出版日期:2007-08-25 发布日期:2007-08-25
  • 通讯作者: 曲银娥

Relationship Between Functional Genetic Variations in Cyclooxygenase-2 and Risk of Endometriosis

Yin-e Qu Yi-feng Wang mei Yang   

  • Received:2007-01-29 Revised:2007-03-27 Online:2007-08-25 Published:2007-08-25
  • Contact: Yin-e Qu

摘要: 目的 探讨COX-2基因启动子区的单核苷酸多态位点与子宫内膜异位症遗传易感性的关系。方法 采用蛋白酶K消化-饱和酚氯仿法提取外周血白细胞DNA,聚合酶链反应-限制性片段长度多态分析 (PCR-RFLP)进行基因分型和序列测定。结果 对照组和病例组COX-2 -1195GG、AG和AA基因型频率分别是24.6%、53.3%和22.1%及14.2%、50.0%和35.8%(P<0.05)。两组中AG基因型频率无显著差异,而AA基因型频率有显著差异(P<0.05)。病例组A等位基因的频率显著高于对照组,携带一个A等位基因的患病风险为1.63,携带2个A等位基因的患病风险则为2.82,提示-1195A等位基因显著增加子宫内膜异位症的发病风险。结论COX-2基因启动子区的-1195G>A单核苷酸多态与子宫内膜异位症有关,可能是决定子宫内膜异位症个体遗传易感性的重要因素。

Abstract: Objective To identify functional SNPs in the COX-2 promoter and evaluate its effects on risk of endometriosis.Methods The genomic DNA of each subject was extracted by proteinase K digestion followed by saturated hydroxybenzene/ chloroform procedure.Genotypes of COX-2 -1195 promoter of 120 endometriosis cases and 240 controls were determined by polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP).Results The frequencies of GG、AG and AA genotype of COX-2 -1195 promoter were 14.2%、50.0% and 35.8% in 120 patients with endometriosis,24.6%、53.3% and 22.1% in 240 controls respectively, and there was a significant difference between cases and controls. A greater risk of developing endometriosis is observed for A-1195 containing haplotype compared with other haplotypes. It was revealed a 1.63-fold (95%CI=0.87-3.03) and 2.82-fold (95%CI =1.44-5.52) excess risk of developing endometriosis in the individual for -1195A and -1195AA containing haplotype respectively. Conclusion The single nucleotide polymorphism of COX-2-1195G>C promoter may play an important role in genetic basic to endometriosis.