Benes Petr, Jurajda Michal, Zaloudík Jan, Izakovicová-Hollá Lydie, Vácha Jirí
Department of Molecular Biology and Genetics, Faculty of Science, Masaryk University, Brno, Czech Republic.
Breast Cancer Res. 2003;5(3):R77-81. doi: 10.1186/bcr591. Epub 2003 Mar 14.
Low-density lipoprotein receptor-related protein 1 (LRP1) is a multifunctional endocytic receptor with an important role in regulating the activity of proteinases in extracellular matrix. Several studies have also described its role in intracellular signaling. Previous studies showed that the expression of LRP1 is related to invasiveness of cancer cells. However, recent data on LRP1 suggest that this receptor can also be involved in tumor establishment and progression.
We investigated an association between the C766T polymorphism of the third exon of the LRP1 gene and breast cancer in a sample of women of Caucasian origin. Allele and genotype frequencies of this polymorphism were assessed in 164 women with breast cancer and in 183 age-compatible women without a history of any cancer disease.
An increase in LRP1 T allele frequency in subjects with breast cancer was observed compared with controls (0.21 versus 0.15, P = 0.01963). A significant excess of genotypes with the T allele (homozygotes plus heterozygotes) was also observed (odds ratio 1.743, 95% confidence interval 1.112-2.732).
The T allele of the C766T polymorphism in the LRP1 gene is associated with an increased risk of breast cancer development in women of Caucasian origin.
低密度脂蛋白受体相关蛋白1（LRP1）是一种多功能内吞受体，在调节细胞外基质中蛋白酶的活性方面具有重要作用。多项研究也描述了其在细胞内信号传导中的作用。先前的研究表明，LRP1的表达与癌细胞的侵袭性有关。然而，最近关于LRP1的数据表明，该受体也可能参与肿瘤的发生和发展。
我们在一组高加索裔女性样本中研究了LRP1基因第三外显子C766T多态性与乳腺癌之间的关联。在164名乳腺癌女性和183名无任何癌症病史的年龄匹配女性中评估了该多态性的等位基因和基因型频率。
与对照组相比，观察到乳腺癌患者中LRP1 T等位基因频率增加（0.21对0.15，P = 0.01963）。还观察到T等位基因的基因型（纯合子加杂合子）显著过量（优势比1.743，95%置信区间1.112 - 2.732）。
LRP1基因C766T多态性的T等位基因与高加索裔女性患乳腺癌风险增加有关。
