Krippl Peter, Langsenlehner Uwe, Renner Wilfried, Yazdani-Biuki Babak, Wolf Gerald, Wascher Thomas C, Paulweber Bernhard, Bahadori Babak, Samonigg Hellmut
Department of Internal Medicine, Division of Oncology, Karl-Franzens-University, Graz, Austria.
Cancer Lett. 2003 Nov 25;201(2):181-4. doi: 10.1016/s0304-3835(03)00468-3.
Transforming growth factor-beta 1 (TGF-beta1) is a potent inhibitor of proliferation of epithelial, endothelial and hematopoietic cells and acts as a tumor suppressor. The gene for TGF-beta1, TGFB1, carries a common T/C variation of nucleotide 29, resulting in a leucine (L) to proline (P) polymorphism at codon 10 (TGFB1 L10P). The less common 10P allele has repeatedly been linked to higher TGF-beta1 levels and in at least one study to a lower incidence of breast cancer. To further analyze the role of this polymorphism for breast cancer risk, 500 patients with histologically confirmed breast cancer and 500 sex-and age-matched healthy control subjects were genotyped for the TGFB1 L10P polymorphism by an allele-specific polymerase chain reaction assay. TGFB1 LL, LP and PP genotype frequencies were not significantly different for patients (39.6, 44.2, 16.2%) and controls (36.5, 45.9, 17.6%). We conclude that the TGFB1 L10P polymorphism is not associated with breast cancer risk.
转化生长因子-β1（TGF-β1）是上皮细胞、内皮细胞和造血细胞增殖的强效抑制剂，起肿瘤抑制作用。TGF-β1基因（TGFB1）在核苷酸29处存在常见的T/C变异，导致第10密码子处出现亮氨酸（L）到脯氨酸（P）的多态性（TGFB1 L10P）。较罕见的10P等位基因多次与较高的TGF-β1水平相关，并且在至少一项研究中与较低的乳腺癌发病率相关。为了进一步分析这种多态性在乳腺癌风险中的作用，通过等位基因特异性聚合酶链反应分析对500例经组织学确诊的乳腺癌患者和500例性别及年龄匹配的健康对照者进行了TGFB1 L10P多态性基因分型。患者（39.6%、44.2%、16.2%）和对照者（36.5%、45.9%、17.6%）的TGFB1 LL、LP和PP基因型频率无显著差异。我们得出结论，TGFB1 L10P多态性与乳腺癌风险无关。
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