Terry Fox Cancer Research Laboratory, China Medical University Hospital, Taichung, Taiwan, ROC.
Anticancer Res. 2010 Dec;30(12):5217-21.
Several epidemiological studies have investigated the association between ataxia telangiectasia mutated (ATM) gene polymorphisms and breast cancer risk. However, published data are still inconclusive and there are no such studies for Taiwan. Thus, the polymorphic variants of ATM were investigated for their association with breast cancer in Taiwan for the first time here.
In this hospital-based matched case-control study, associations of seven ATM single nucleotide polymorphisms (rs600931, rs652311, rs227060, rs227292, rs624366 and rs189037) with breast cancer risk in a Taiwanese population were investigated. One thousand two hundred and thirty-two patients with breast cancer and the same number of age-matched healthy controls recruited were genotyped and analyzed.
There was a slight difference between breast cancer and control groups in the distributions of their genotypic (p = 0.0774) and allelic frequencies (p = 0.0217) in the rs189037 polymorphism. As for the other six polymorphisms there was no differential distribution.
Our data indicate that ATM polymorphism is associated with breast cancer, and the A allele of ATM rs189037 is a minor risky biomarker of breast cancer in Taiwan. The gene-gene and gene-environment interactions of ATM with other factors is worthy of further investigation.
几项流行病学研究调查了共济失调毛细血管扩张突变基因（ATM）基因多态性与乳腺癌风险之间的关联。然而，已发表的数据仍不确定，并且针对台湾地区尚无此类研究。因此，我们首次在此研究中探讨了 ATM 的多态性变体与台湾地区乳腺癌之间的关联。
在这项基于医院的匹配病例对照研究中，研究了七个 ATM 单核苷酸多态性（rs600931、rs652311、rs227060、rs227292、rs624366 和 rs189037）与台湾人群乳腺癌风险的关联。我们对 1232 名乳腺癌患者和相同数量的年龄匹配的健康对照者进行了基因分型和分析。
rs189037 多态性的基因型（p = 0.0774）和等位基因频率（p = 0.0217）分布在乳腺癌组和对照组之间存在细微差异。对于其他六个多态性，没有差异分布。
我们的数据表明，ATM 多态性与乳腺癌相关，ATM rs189037 的 A 等位基因是台湾地区乳腺癌的一个较小的风险生物标志物。ATM 与其他因素的基因-基因和基因-环境相互作用值得进一步研究。
