Iarmolinskaia M I, Molotkov A S, Bezhenar' V F, Shved N Iu, Ivashchenko T E, Baranov V S
Genetika. 2014 Feb;50(2):230-5.
We present a comparative analysis of the allelic polymorphism of the matrix metalloproteinase (MMP) gene family, including MMP3 (rs3025058), MMP7 (rs11568818), MMP9 (rs17576, rs2250889), MMP12 (rs2276109), and MMP13 (rs2252070), in patients with external genital endometriosis (EGE) and in a control group of healthy women proven to be free of disease by laparoscopic inspection. We found significant differences in the incidence of particular MMP3 and MMP9 alleles, which substantiate the role of matrix metalloproteinases in EGE pathogenesis. We used the Multifactor Dimensionality Reduction (MDR) analysis to show that 14 allelic combinations of the MMP containing MMP3 (rs3025058) x MMP7 (rs11568818) x MMP9 (rs17576) alleles showed a statistically significant association with an increased risk of EGE, while 10 other combinations correlated with a reduced risk of the disease. MDR analysis produced two statistically significant models for MMP allelic combinations involved in EGE progression, both with 100% penetrance and 83% and 78% accuracy.
我们对基质金属蛋白酶（MMP）基因家族的等位基因多态性进行了比较分析，该基因家族包括MMP3（rs3025058）、MMP7（rs11568818）、MMP9（rs17576、rs2250889）、MMP12（rs2276109）和MMP13（rs2252070），研究对象为患有外阴子宫内膜异位症（EGE）的患者以及经腹腔镜检查证实无疾病的健康女性对照组。我们发现特定MMP3和MMP9等位基因的发生率存在显著差异，这证实了基质金属蛋白酶在EGE发病机制中的作用。我们使用多因素降维（MDR）分析表明，包含MMP3（rs3025058）×MMP7（rs11568818）×MMP9（rs17576）等位基因的14种等位基因组合与EGE风险增加具有统计学显著关联，而其他10种组合与疾病风险降低相关。MDR分析产生了两个与EGE进展相关的MMP等位基因组合的统计学显著模型，二者的外显率均为100%，准确率分别为83%和78%。
