台湾人群中ORAI1基因单核苷酸多态性与乳腺癌的关联。
The association between single-nucleotide polymorphisms of ORAI1 gene and breast cancer in a Taiwanese population.
作者信息
Chang Wei-Chiao, Woon Peng Yeong, Hsu Yu-Wen, Yang Shengyu, Chiu Yi-Ching, Hou Ming Feng
机构信息
Department of Medical Genetics, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.
出版信息
ScientificWorldJournal. 2012;2012:916587. doi: 10.1100/2012/916587. Epub 2012 Jun 18.
BACKGROUND
Breast cancer is the most common malignancy in women. There is increasing evidence suggesting that ORAI1, components of store-operated calcium channel, play a pivotal role in breast cancer progression and metastasis.
METHODS
A total of 384 female patients with breast cancer were included in this study. We selected five representative tagging ORAI1 SNPs from HapMap database with minimum allele frequency (MAF) >10%. Genotyping was performed using TaqMan allelic discrimination assay. Chi-square (χ²) test was used to analyze statistical differences among control and patient groups in genotype and allelic frequencies.
RESULTS
Two of the ORAI1 SNPs (rs12320939 and rs12313273) were associated with estrogen receptors positive in breast cancer patients under the recessive model. When the Bonferroni correction was performed, the significance still existed. In addition, rs12320939 also associated with the lymph nodal involvement.
CONCLUSION
We showed that genetic polymorphisms of ORAI1 associated strongly with lymph nodal involvement and estrogen receptors (ERs) positive breast cancer patients in a Taiwanese population.
背景
乳腺癌是女性中最常见的恶性肿瘤。越来越多的证据表明，储存式钙通道的组成部分ORAI1在乳腺癌进展和转移中起关键作用。
方法
本研究共纳入384例女性乳腺癌患者。我们从HapMap数据库中选择了五个具有代表性的标签ORAI1单核苷酸多态性（SNP），其最小等位基因频率（MAF）>10%。使用TaqMan等位基因鉴别分析进行基因分型。采用卡方（χ²）检验分析对照组和患者组在基因型和等位基因频率上的统计学差异。
结果
在隐性模型下，ORAI1的两个SNP（rs12320939和rs12313273）与乳腺癌患者的雌激素受体阳性相关。进行Bonferroni校正后，显著性仍然存在。此外，rs12320939也与淋巴结受累相关。
结论
我们表明，在台湾人群中，ORAI1的基因多态性与淋巴结受累以及雌激素受体（ERs）阳性乳腺癌患者密切相关。
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