Molecular Oncology Group, Elche University Hospital, Camino Almazara 11, 03203 Elche, Spain.
BMC Cancer. 2009 Nov 20;9:406. doi: 10.1186/1471-2407-9-406.
The Int7G24A variant of transforming growth factor-beta receptor type I (TGFBR1) has been shown to increase the risk for kidney, ovarian, bladder, lung and breast cancers. Its role in colorectal cancer (CRC) has not been established. The aims of this study were to assess the association of TGFBR1*Int7G24A variant with CRC occurrence, patient age, gender, tumour location and stage.
We performed a case-control study with 504 cases of sporadic CRC; and 504 non-cancerous age, gender and ethnically matched controls. Genotyping analysis was performed using allelic discrimination assay by real time PCR.
The Int7G24A variant was associated with increased CRC incidence in an additive model of inheritance (P for trend = 0.005). No significant differences were found between Int7G24A genotypes and tumour location or stage. Interestingly, the association of the Int7G24A variant with CRC risk was significant in men (odds ratio 4.10 with 95% confidence intervals 1.41-11.85 for homozygous individuals; P for trend = 0.00023), but not in women. We also observed an increase in susceptibility to CRC for individuals aged less than 70 years.
Our data suggest that the Int7G24A variant represents a risk factor for CRC in the male Spanish population.
转化生长因子-β受体 I 型（TGFBR1）的 Int7G24A 变体已被证明会增加患肾癌、卵巢癌、膀胱癌、肺癌和乳腺癌的风险。其在结直肠癌（CRC）中的作用尚未确定。本研究旨在评估 TGFBR1*Int7G24A 变体与 CRC 发生、患者年龄、性别、肿瘤位置和分期的关联。
我们进行了一项病例对照研究，纳入了 504 例散发性 CRC 病例和 504 例年龄、性别和种族匹配的非癌对照。通过实时 PCR 的等位基因鉴别检测进行基因分型分析。
在加性遗传模型中，Int7G24A 变体与 CRC 发生率增加相关（趋势 P 值=0.005）。Int7G24A 基因型与肿瘤位置或分期之间无显著差异。有趣的是，Int7G24A 变体与 CRC 风险的关联在男性中具有统计学意义（杂合子个体的优势比为 4.10，95%置信区间为 1.41-11.85；趋势 P 值=0.00023），但在女性中无统计学意义。我们还观察到，年龄小于 70 岁的个体患 CRC 的易感性增加。
我们的数据表明，Int7G24A 变体代表了西班牙男性 CRC 的一个风险因素。
