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启动子多态性与乳腺癌的关联

The Association of Promoter Polymorphisms with Breast Cancer.

作者信息

Hsiao Chieh-Lun, Liu Liang-Chih, Shih Tzu-Ching, Lai Yi-Liang, Hsu Shih-Wei, Wang Hwei-Chung, Pan Su-Yi, Shen Te-Chun, Tsai Chia-Wen, Chang Wen-Shin, Su Chen-Hsien, Way Tzong-DER, Chung Jing-Gung, Bau DA-Tian

机构信息

Terry Fox Cancer Research Laboratory, Translational Medical Research Center, China Medical University Hospital, Taichung, Taiwan, R.O.C.

Ph.D. Program for Biotechnology Industry, China Medical University, Taichung, Taiwan, R.O.C.

出版信息

In Vivo. 2018 May-Jun;32(3):487-491. doi: 10.21873/invivo.11265.

Abstract

BACKGROUND/AIM: The family of matrix metalloproteinases (MMPs) are responsible for the homeostasis of extracellular matrix components and their genetic polymorphisms may be associated with cancer susceptibility. The serum levels of MMP-1 have been reported to be lower in breast cancer patients than healthy subjects. In the current study, we aimed at investigating the contribution of a polymorphism in the promoter region of MMP-1 to breast cancer in Taiwan.

MATERIALS AND METHODS

The MMP-1 rs1799705 polymorphic genotypes were genotyped among 1,232 breast cancer patients and 1,232 healthy controls by the typical polymerase chain reaction-restriction fragment length polymorphism methodology.

RESULTS

The percentages of 2G/2G, 1G/2G, and 1G/1G for MMP1 -1607 genotypes were 35.4, 40.6 and 24.0% in the breast cancer group and 34.1, 43.6, and 22.3% in the healthy control group (p trend=0.3025), respectively. The odds ratios (ORs) after adjusting for age, smoking and alcohol drinking status for those carrying 1G/2G and 1G/1G genotypes at MMP1 -1607 were 0.93 (95%CI=0.76-1.11, p=0.2390) and 1.01 (95%CI=0.77-1.23, p=0.7377), respectively, compared to those carrying the wild-type 2G/2G genotype. Supporting this finding, the adjusted OR for those carrying the 1G allele at MMP-1 -1607 was 1.03 (95%CI=0.91-1.18, p=0.8860), compared to those carrying the wild-type 2G allele. Our findings suggest that the polymorphic genotypes at MMP1 promoter -1607 investigated in the current study, may not play a major role in determining cancer susceptibility to breast cancer in Taiwan. Other early diagnostic and predictive markers are urgently needed for personalized and precise breast cancer detection and therapy.

摘要

背景/目的:基质金属蛋白酶(MMPs)家族负责细胞外基质成分的稳态,其基因多态性可能与癌症易感性相关。据报道,乳腺癌患者血清中MMP-1水平低于健康受试者。在本研究中,我们旨在调查台湾地区MMP-1启动子区域多态性对乳腺癌的影响。

材料与方法

采用典型的聚合酶链反应-限制性片段长度多态性方法,对1232例乳腺癌患者和1232例健康对照者进行MMP-1 rs1799705多态性基因型分型。

结果

乳腺癌组中MMP1 -1607基因型的2G/2G、1G/2G和1G/1G百分比分别为35.4%、40.6%和24.0%,健康对照组分别为34.1%、43.6%和22.3%(p趋势=0.3025)。与携带野生型2G/2G基因型的人相比,MMP1 -1607携带1G/2G和1G/1G基因型的人在调整年龄、吸烟和饮酒状况后的优势比(OR)分别为0.93(95%CI=0.76-1.11,p=0.2390)和1.01(95%CI=0.77-1.23,p=0.7377)。支持这一发现的是,与携带野生型2G等位基因的人相比,MMP-1 -1607携带1G等位基因的人调整后的OR为1.03(95%CI=0.91-1.18,p=0.8860)。我们的研究结果表明,本研究中调查的MMP1启动子-1607多态性基因型可能在决定台湾地区乳腺癌的癌症易感性方面不起主要作用。迫切需要其他早期诊断和预测标志物用于个性化和精确的乳腺癌检测与治疗。

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