No association between germline allele-specific expression of TGFBR1 and colorectal cancer risk in Caucasian and Ashkenazi populations.
No association between germline allele-specific expression of TGFBR1 and colorectal cancer risk in Caucasian and Ashkenazi populations.
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DOI：
10.1038/sj.bjc.6606079
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发表时间：
2011-02-15
影响因子：
8.8
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中科院分区：
文献类型：
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据报道，TGFBR1基因的种系等位基因特异性表达（ASE）是结直肠癌（CRC）的一个重要危险因素，比值比接近9。考虑到该发现的潜在影响，我们承担了验证本研究初始结果的任务。等位基因特异性表达采用高定量和稳健的焦磷酸测序技术。研究人员对来自两个不同人群的个体进行了研究，一个是高加索人主导的，另一个是德系犹太人后裔，每个人的非肿瘤遗传物质来源不同。我们的研究结果显示，考虑到ASE是一种定量或二元特征，结直肠癌患者和对照组之间ASE的程度没有统计学上的显著差异。使用定义的截断值对ASE进行分类，来自以色列信息性病例（总n=96）的1.0%的血液淋巴细胞为ASE阳性（中位数1.00，范围0.76-1.31），2.2%的信息性匹配对照（总n=90）为ASE阳性（中位数1.00，范围0.76-1.87）。同样，西班牙患者的正常粘膜（中位数1.03；范围：0.68-1.43;n=75）与以色列患者或对照组相比，ASE的程度没有显着差异。综上所述，这些结果表明TGFBR1的ASE并不会增加结直肠癌的风险。
Germline allele-specific expression (ASE) of the TGFBR1 gene has been reported as a strong risk factor for colorectal cancer (CRC) with an odds ratio close to 9. Considering the potential implications of the finding, we undertook the task of validating the initial results in this study. Allele-specific expression was measured using the highly quantitative and robust technique of pyrosequencing. Individuals from two different populations were studied, one Caucasian-dominated and the other of Ashkenazi Jewish descent, with different sources of non-tumoral genetic material in each. Our results showed no statistically significant differences in the degree of ASE between CRC patients and controls, considering ASE as either a quantitative or a binary trait. Using defined cutoff values to categorise ASE, 1.0% of blood lymphocytes from informative Israeli cases (total n=96) were ASE positive (median 1.00; range 0.76–1.31) and 2.2% of informative matched controls (total n=90) were ASE positive (median 1.00; range 0.76–1.87). Likewise, normal mucosae from Spanish patients (median 1.03; range: 0.68–1.43; n=75) did not show significant differences in the degree of ASE when compared with the Israeli patients or controls. Taken together, these results suggest that ASE of TGFBR1 does not confer an increased risk of CRC.
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