Skorupski Paweł, Jankiewicz Katarzyna, Miotła Paweł, Marczak Małgorzata, Kulik-Rechberger Beata, Rechberger Tomasz
2nd Department of Gynecology, Medical University of Lublin, Jaczewskiego 8, 20-954, Lublin, Poland.
Int Urogynecol J. 2013 Jun;24(6):1033-8. doi: 10.1007/s00192-012-1970-1. Epub 2012 Oct 30.
To investigate the associations between single nucleotide polymorphism (SNP) type 1G/2G at position -1607/-1608 of the matrix metalloproteinase (MMP)-1 gene and SNP type 5A/6A at position -1612/-1617 of the MMP-3 gene and the development of pelvic organ prolapse (POP) in women.
133 patients with symptomatic POP were included in the study group. The control group consisted of 132 women with a normal pelvic floor. 1G/2G MMP-1 and 5A/6A MMP-3 SNPs were determined by polymerase chain reaction (PCR) and restriction fragments length polymorphism analysis.
When estimated individually none of the investigated SNPs were associated with POP. The combined MMP-1/MMP-3 SNP analysis showed that the following polymorphic pairs were overrepresented in women with POP: 1G/2G -5A/6A, 2G/2G -5A/6A, 2G/2G -5A/5A, 1G/1G -6A/6A, p=0.005.
The combined effect of -1607/-1608 MMP-1 and -1612/-1617 MMP-3 SNPs may contribute to the development of POP in some women.
研究基质金属蛋白酶（MMP）-1基因-1607/-1608位点的单核苷酸多态性（SNP）1G/2G以及MMP-3基因-1612/-1617位点的SNP 5A/6A与女性盆腔器官脱垂（POP）发生之间的关联。
研究组纳入133例有症状的POP患者。对照组由132例盆底正常的女性组成。通过聚合酶链反应（PCR）和限制性片段长度多态性分析确定MMP-1的1G/2G和MMP-3的5A/6A SNPs。
单独评估时，所研究的SNPs均与POP无关联。MMP-1/MMP-3 SNP联合分析显示，以下多态性配对在POP女性中过度存在：1G/2G -5A/6A、2G/2G -5A/6A、2G/2G -5A/5A、1G/1G -6A/6A，p = 0.005。
MMP-1基因-1607/-1608位点和MMP-3基因-1612/-1617位点SNPs的联合作用可能在某些女性POP的发生中起作用。
