PTEN ⅣS4基因多态性与子宫内膜异位症发病风险的关系

Correlation between PTEN ⅣS4 gene polymorphisms and risk of developing endometriosis

目的探讨PTENⅣS4基因多态性与子宫内膜异位症(endometriosis,EMS)的关系。方法应用聚合酶链反应-限制性内切酶片段长度多态性(PCR-RFLP)技术,分析86例子宫内膜异位症患者及64例对照者的PTENⅣS4基因多态性。结果病例组及对照组PTENⅣS4基因野生型(-/-)、杂合型(-/+)、突变型(+/+)频率分别为11.6%、83.7%、4.7%及10.9%、73.5%、15.6%,等位基因-、+频率分别为53.5%、46.5%及47.7%、52.3%,2组比较差异均无统计学意义(P>0.05)。合并PTENⅣS4基因杂合型(-/+)和野生型(-/-)与突变型(+/+)相比,携带PTENⅣS4突变型基因(+/+)可降低子宫内膜异位症的发病风险(OR=3.796,95%CI=1.1328～12.7227,P<0.05)。结论PTENⅣS4基因多态性中,突变型基因(+/+)是子宫内膜异位症发生的保护性因素。

Objective To study the correlation between PTEN gene polymorphisms and endometriosis （EMS）.Methods PTEN ⅣS4 polymorphisms in 86 EMS patients and 64 healthy controls were analyzed by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）.Results The frequency of wild PTEN ⅣS4 （-/-）,heterozygous PTEN ⅣS4 （-/＋）,and mutant PTEN ⅣS4 （＋/＋） was 11.6%,83.7%,4.7% respectively in EMS patients and 10.9%,73.5%,15.6% respectively in healthy controls.The frequency of alleles （-and ＋） was 53.5% and 46.5% respectively in EMS patients and 47.7%,52.3% respectively in controls （P0.05）.The risk of developing EMS was lower in patients carrying mutant PTEN ⅣS4 （＋/＋） than in those carrying wild PTEN ⅣS4 （-/-）,heterozygous PTEN ⅣS4 （-/＋） and mutant PTEN ⅣS4 （＋/＋） （OR= 3.796,95%CI=1.132 8 to 12.722 7,P0.05）.Conclusion Mutant PTEN ⅣS4 （＋/＋） can reduce the risk of developing EMS.