基质金属蛋白酶-12和基质金属蛋白酶-13基因启动子区域功能多态性与上皮性卵巢癌的相关性

[Association of functional polymorphisms on MMP-12 and MMP-13 gene promoter region with epithelial ovarian carcinoma].

作者信息

Jia Jinghui, Kang Shan, Zhao Jian, Zhang Xiaojuan, Wang Na, Zhou Rongmiao, Li Yan

机构信息

Department of Obstetrics and Gynecology, the Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei, P.R. China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Apr;27(2):209-13. doi: 10.3760/cma.j.issn.1003-9406.2010.02.020.

DOI:10.3760/cma.j.issn.1003-9406.2010.02.020

PMID:20376807

Abstract

OBJECTIVE

To investigate whether the functional polymorphisms in the promoter region of MMP-12 (-82A/G) and MMP-13(-77A/G) are associated with epithelial ovarian carcinoma (EOC).

METHODS

The MMP-12 -82A/G and MMP-13 -77A/G were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 300 epithelial ovarian carcinoma patients and 300 control women.

RESULTS

The A/G genotype frequency of the MMP-12 gene was significantly higher in the patients than in the controls (P= 0.003); similarly, the frequency of MMP-12 -82G allele was higher in the patient group (P= 0.004). Compared with the A/A genotype, the A/G genotype carriers significantly increased the risk of EOC development (OR= 2.81, 95%CI: 1.38-5.74). No overall association between the MMP-13 -77A/G polymorphism and EOC(P= 0.15) was observed. However, the A/A genotype carriers in the MMP-13 -77A/G locus had significantly higher risk of developing serous-papillary and mucinous ovarian cancer (OR= 1.93, 95% CI: 1.05-3.53; OR= 5.16, 95% CI: 1.62-16.44, respectively), comparing with the G/G genotype carriers. Combining the two SNPs, the haplotype distributions in patients were not significantly different from that in control women (P= 0.06).

CONCLUSION

These results suggested that individuals with MMP-12 -82A/G and MMP-13 -77A/A might have higher risk of overall or special histological type of EOC development.

摘要

目的

探讨基质金属蛋白酶-12（MMP-12）启动子区域功能性多态性（-82A/G）和基质金属蛋白酶-13（MMP-13）启动子区域功能性多态性（-77A/G）是否与上皮性卵巢癌（EOC）相关。

方法

采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术对300例上皮性卵巢癌患者和300例对照女性进行MMP-12 -82A/G和MMP-13 -77A/G基因分型。

结果

MMP-12基因的A/G基因型频率在患者中显著高于对照组（P = 0.003）；同样，MMP-12 -82G等位基因频率在患者组中更高（P = 0.004）。与A/A基因型相比，A/G基因型携带者显著增加了EOC发生风险（OR = 2.81，95%CI：1.38 - 5.74）。未观察到MMP-13 -77A/G多态性与EOC之间的总体关联（P = 0.15）。然而，与G/G基因型携带者相比，MMP-13 -77A/G位点的A/A基因型携带者发生浆液性乳头状和黏液性卵巢癌的风险显著更高（OR分别为1.93，95%CI：1.05 - 3.53；OR为5.16，95%CI：1.62 - 16.44）。综合两个单核苷酸多态性（SNP）来看，患者中的单倍型分布与对照女性无显著差异（P = 0.06）。