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Association of MMP8 gene variation with an increased risk of malignant melanoma.

机译:MMP8基因变异与恶性黑色素瘤风险增加相关。

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摘要

Matrix metalloproteinases (MMPs) are implicated in the development of cancers including malignant melanoma (MM) and breast cancer. We tested the possible association of MMP1 and MMP8 gene variation with these two types of cancer. We genotyped 300 unselected patients with MM, 300 consecutive breast cancer cases, 300 controls for melanoma, and 300 controls for breast cancer (age-matched and sex-matched healthy adults with negative cancer family histories). Our study showed that the MMP8 gene rs11225395 polymorphism was associated with the risk of developing MM (odds ratio: 1.69; 95% confidence interval: 1.02-2.80; P=0.040) for the A/A genotype and 1.49 (95% confidence interval: 1.03-2.17; P=0.035) for the A/G genotype compared with the G/G genotype. The A allele was over-represented among MM cases compared with controls (odds ratio=1.54; P=0.017). In-vitro assays showed that the A allele had a higher promoter activity than the G allele in melanoma cells. No association was detected between this variant and breast cancer susceptibility. We found no strong association between MMP1 variation and the risk of MM or breast cancer. The finding of this study indicates an influence of MMP8 gene variation on melanoma susceptibility.
机译:基质金属蛋白酶(MMP)与包括恶性黑色素瘤(MM)和乳腺癌在内的癌症有关。我们测试了MMP1和MMP8基因变异与这两种类型癌症的可能关联。我们对300例未选择的MM患者,300例连续的乳腺癌病例,300例黑色素瘤对照和300例乳腺癌(年龄匹配和性别匹配的健康成年人,具有阴性癌症家族史)进行了基因分型。我们的研究表明,对于A / A基因型,MMP8基因rs11225395多态性与罹患MM的风险相关(赔率:1.69; 95%置信区间:1.02-2.80; P = 0.040)和1.49(95%置信区间:与G / G基因型相比,A / G基因型的差异为1.03-2.17; P = 0.035)。与对照组相比,MM患者中的A等位基因过多(优势比= 1.54; P = 0.017)。体外测定显示,在黑色素瘤细胞中,A等位基因具有比G等位基因更高的启动子活性。在该变异体与乳腺癌易感性之间未发现关联。我们发现MMP1变异与MM或乳腺癌的风险之间没有强关联。这项研究的发现表明MMP8基因变异对黑色素瘤易感性的影响。

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