孕激素受体基因多态性与子宫内膜异位症的关系

The association between the PROGINS receptor gene polymorphism and endometriosis.

目的评价孕酮受体基因内含子G插入306碱基对多态性(PROGINS)在子宫内膜异位症发病中的意义。方法2005-06-2006-06中国医科大学附属二院和解放军463医院将66例手术及组织学证实诊断的子宫内膜异位症患者和非子宫内膜异位症对照组56例,通过人末梢血提取白细胞DNA,PCR检测基因型分布频率及等位基因(野生型T1和突变型T2)频率。结果两组比较突变型T2基因型分布频率分别为子宫内膜异位症组0·14,对照组0·04,OR:4·54(95%CI:1·50-13·78),P=0·004。子宫内膜异位症组有2例纯突变型T2(3·0%)。结论PROGINS可能与子宫内膜异位症发病有关。

Objective To evaluate the association between the 306-base pair insertion polymorphism in intron G of the progesterone receptor gene （PROGINS） and endometriosis. Methods From June 2005 to June 2006 in a case care-control study, the PROGINS polymorphism of the progesterone receptor gene was examined in 66 women with surgically diagnosed and histologically confirmed endometriosis and 56 women without endometriosis （controls）in the Second Hospital Affiliated to China Medical University and the 463 Hospital of PLA. Peripheral blood samples, DNA extraction and polymerase chain reaction （PCR） were used to genotype women for the presence of the PROGINS polymorphism. Results Frequencies of the mutant allele T2 was 0. 14 among women with endometriosis and 0. 04 among controls （ odds ratio） 4. 54 （95% CI：I. 50-13.78）P = 0. 004. Homozygosity for allele T2 was present in 3.0% of women with endometriosis. Conclusion PROGINS may be associated with an increased risk of endometriosis.