de Lima Jacqueline Miranda, de Souza Lessileia Gomes, da Silva Ismael Dale Cotrim Guerreiro, Forones Nora Manoukian
Oncology Group, Gastroenterology Division, Federal University of Sao Paulo (UNIFESP/EPM), Sao Paulo, Brazil.
Int J Biol Markers. 2009 Apr-Jun;24(2):99-106. doi: 10.1177/172460080902400206.
E-cadherin (CDH1) and metalloproteinase (MMP) polymorphisms could play a crucial role in cancer invasion. Our aim was to investigate the influence of the -160C/A CDH1, -1607ins/delG MMP-1 and -181A/G MMP-7 polymorphisms on the frequency and progression of colorectal cancer (CRC).
A total of 130 patients with CRC and 130 noncancer controls were studied. The -160C/A CDH1, -1607ins/delG MMP-1 and -181A/G MMP-7 genotypes were analyzed by polymerase chain reaction-restriction fragment length polymorphism.
Patients with the 1G allele and a family history of CRC showed a six times higher risk of developing CRC (OR: 6.45, 95% CI: 2.02-20.6, p=0.001). The A/A CDH1 genotype was associated with a higher risk of metastatic disease (OR: 3.43, 95% CI: 1.27-9.27, p=0.023). A higher marginal risk of metastatic disease was observed for MMP-1 genotypes 1G/1G and 1G/2G (OR: 2.97, 95% CI: 0.93-9.47, p=0.098).
The -160C/A CDH1, -1607ins/delG MMP-1 and -181A/G MMP-7 single nucleotide polymorphisms did not modify the risk of CRC development. Patients with the 1G/1G or 1G/2G genotype and a family history of CRC presented a higher risk of CRC. The AA CDH1 and 1G/1G and 1G/2G MMP-1 genotypes might be associated with advanced metastatic disease, but are not markers of lymphatic metastasis.
E-钙黏蛋白（CDH1）和金属蛋白酶（MMP）多态性可能在癌症侵袭中起关键作用。我们的目的是研究CDH1基因-160C/A、MMP-1基因-1607ins/delG和MMP-7基因-181A/G多态性对结直肠癌（CRC）发生频率和进展的影响。
共研究了130例CRC患者和130例非癌症对照。采用聚合酶链反应-限制性片段长度多态性分析法分析CDH1基因-160C/A、MMP-1基因-1607ins/delG和MMP-7基因-181A/G基因型。
携带1G等位基因且有CRC家族史的患者患CRC的风险高出6倍（比值比：6.45，95%可信区间：2.02 - 20.6，p = 0.001）。CDH1基因A/A基因型与发生转移性疾病的较高风险相关（比值比：3.43，95%可信区间：1.27 - 9.27，p = 0.023）。MMP-1基因1G/1G和1G/2G基因型的患者发生转移性疾病的边缘风险较高（比值比：2.97，95%可信区间：0.93 - 9.47，p = 0.098）。
CDH1基因-160C/A、MMP-1基因-1607ins/delG和MMP-7基因-181A/G单核苷酸多态性并未改变CRC发生的风险。携带1G/1G或1G/2G基因型且有CRC家族史的患者患CRC的风险更高。CDH1基因AA基因型以及MMP-1基因1G/1G和1G/2G基因型可能与晚期转移性疾病相关，但不是淋巴转移的标志物。
