Shan Kang, Ying Wang, Jian-Hui Zhang, Wei Guo, Na Wang, Yan Li
Department of Obstetrics and Gynaecology, Hebei Medical University, Fourth Hospital and Department of Molecular Biology, Hebei Cancer Institute, Shijiazhuang, China.
Mol Hum Reprod. 2005 Jun;11(6):423-7. doi: 10.1093/molehr/gah177. Epub 2005 May 6.
Matrix metalloproteinases (MMPs) may contribute to the development of endometriosis. Genetic variations in several MMP promoters may influence the transcription and expression of MMPs. The purpose of the present study was to assess how gene polymorphisms in the MMP1 and MMP3 promoters affect the risk of development of endometriosis. We genotyped 100 women with endometriosis and 150 control subjects in North China. There was a significant difference in frequency of the MMP1 genotype between cases and controls (P=0.03). The 2G homozygote in endometriosis and controls was significantly different (P=0.02). The frequency of the 2G allele among affected women (79%) was significantly higher than among the healthy controls (66.9%; P=0.003). However, the overall genotype and allelotype distribution of the MMP3 single nucleotide polymorphism (SNP) in patients was not different from that of controls (P> or =0.05). MMP1 and MMP3 polymorphisms were in linkage disequilibrium in cases and controls (D'=0.47; P=0.00). The haplotype frequency distribution derived from these two polymorphisms was significantly different between cases and controls (P=0.00). The haplotype analysis suggested an implication of both MMP1 and MMP3 polymorphisms in the susceptibility to endometriosis. We conclude that the MMP1 promoter SNP and MMP 2G/6A haplotype may modify susceptibility to endometriosis, but that the MMP3 promoter SNP is unlikely to be associated with endometriosis in the population of North China.
基质金属蛋白酶（MMPs）可能与子宫内膜异位症的发生发展有关。几种MMP启动子的基因变异可能会影响MMPs的转录和表达。本研究的目的是评估MMP1和MMP3启动子中的基因多态性如何影响子宫内膜异位症的发病风险。我们对中国北方的100例子宫内膜异位症患者和150名对照者进行了基因分型。病例组和对照组之间MMP1基因型频率存在显著差异（P = 0.03）。子宫内膜异位症患者和对照组中的2G纯合子存在显著差异（P = 0.02）。患病女性中2G等位基因的频率（79%）显著高于健康对照组（66.9%；P = 0.003）。然而，患者中MMP3单核苷酸多态性（SNP）的总体基因型和等位基因型分布与对照组无差异（P≥0.05）。病例组和对照组中MMP1和MMP3多态性处于连锁不平衡状态（D' = 0.47；P = 0.00）。由这两种多态性推导的单倍型频率分布在病例组和对照组之间存在显著差异（P = 0.00）。单倍型分析表明MMP1和MMP3多态性均与子宫内膜异位症易感性有关。我们得出结论，MMP1启动子SNP和MMP 2G/6A单倍型可能会改变子宫内膜异位症的易感性，但MMP3启动子SNP在华北人群中不太可能与子宫内膜异位症相关。
