The TGFBR1*6A/9A polymorphism is not associated with differential risk of breast cancer
The TGFBR1*6A/9A polymorphism is not associated with differential risk of breast cancer
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DOI：
10.1007/s10549-009-0395-0
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发表时间：
2010-01-01
影响因子：
3.8
通讯作者：
Sawyer, Elinor
中科院分区：
文献类型：
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作者：
Colleran, Gabrielle;McInerney, Niall;Sawyer, Elinor
TGFBR 1基因第1外显子9-bp多态性缺失（TGFBR 1 *6A）是一种低频率癌症易感性等位基因。在最初的研究中，最强的关联是乳腺癌;然而，这些研究包括患有不同类型癌症的患者，包括结肠癌、宫颈癌和乳腺癌，只有一小部分是乳腺癌患者。在随后的病例对照研究中，仅关注乳腺癌，结果是模棱两可的。为了阐明TGFBR 1 *6A是否与乳腺癌风险相关，我们对来自爱尔兰西部的988例乳腺癌病例和1,016例对照进行了基因分型，并对先前发表的数据（5,150例病例和6,344例对照）进行了荟萃分析。在我们来自爱尔兰西部的系列中，我们没有发现相关性（显性模型下的基因型比值比（OR）= 0.93，95%置信区间（CI）0.73-1.19，P = 0.57;等位基因OR = 0.93，95% CI 0.74-1.15，P = 0.49）。荟萃分析显示研究间存在异质性。使用随机效应模型，发现没有证据表明 *6A等位基因与乳腺癌相关（显性模型下的基因型OR = 1.10，95%CI = 0.94-1.28，P = 0.24，等位基因OR = 1.12，95%CI 0.97-1.31，P = 0.13）。总之，我们的研究表明TGFBR 1 *6A与乳腺癌风险之间没有关联。
A polymorphic 9-bp deletion in exon 1 of TGFBR1 (TGFBR1*6A) has been identified as a low-penetrance cancer susceptibility allele. The strongest association in the initial studies was with breast cancer; however, these studies included patients with different types of cancer, including colon, cervical and breast carcinomas, with only a small proportion being breast cancer patients. In subsequent case-control studies focussing on breast cancer alone, the results have been equivocal. In order to clarify whether TGFBR1*6A is associated with breast cancer risk, we have genotyped this polymorphism in 988 breast cancer cases and 1,016 controls from the West of Ireland and also performed a meta-analysis of previously published data (5,150 cases and 6,344 controls). In our series from the West of Ireland, we found no association (genotypic odds ratio (OR) under a dominant model = 0.93, 95% confidence interval (CI) 0.73-1.19, P = 0.57; allelic OR = 0.93, 95% CI 0.74-1.15, P = 0.49). Meta-analysis showed evidence of heterogeneity among studies. Using the random effects model, it was found that there was no evidence of an association of the *6A allele with breast cancer (genotypic OR under a dominant model = 1.10, 95% CI = 0.94-1.28, P = 0.24, allelic OR = 1.12, 95% CI 0.97-1.31, P = 0.13). In conclusion, our study shows that there is no association between TGFBR1*6A and breast cancer risk.