Associations of Genetic Variants at Nongenic Susceptibility Loci with Breast Cancer Risk and Heterogeneity by Tumor Subtype in Southern Han Chinese Women.
Associations of Genetic Variants at Nongenic Susceptibility Loci with Breast Cancer Risk and Heterogeneity by Tumor Subtype in Southern Han Chinese Women.
复制标题
中国南方汉族女性非基因易感位点遗传变异与乳腺癌风险和肿瘤亚型异质性的关系
DOI：
10.1155/2016/3065493
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发表时间：
2016
影响因子：
--
通讯作者：
Li M
中科院分区：
文献类型：
--
作者：
Liang H;Li H;Yang X;Chen L;Zhu A;Sun M;Ye C;Li M
目前对癌症基因组的理解主要是“以基因为中心”。然而，GWAS已经确定了一些非基因乳腺癌易感位点。验证研究显示不同人群的结果不一致。为了进一步探讨这种不一致性，并研究中国南方汉族女性内在亚型（Luminal-A, Luminal-B， ER - &PR - &HER2+和三阴性）的相关性，我们使用MassARRAY IPLEX平台对609名患者和882名对照者的5种非基因多态性（2q35: rs13387042, 5p12: rs981782和rs4415084, 8q24: rs1562430和rs13281615）进行了基因分型。rs13387042和rs4415084与乳腺癌有显著相关性，每等位基因OR （95% CI）分别为1.29（1.00-1.66）和0.83（0.71-0.97）。在亚型特异性分析中，rs13387042（单等位基因校正OR = 1.36, 95% CI = 1.00 ~ 1.87）和rs4415084（单等位基因校正OR = 0.82, 95% CI = 0.66 ~ 1.00）与Luminal-A亚型呈微显著相关；然而，只有rs13387042与ER−&PR−&HER2+肿瘤相关（每个等位基因调整的OR = 1.55, 95% CI = 1.00-2.40），并且没有一个与Luminal-B和三阴性亚型相关。总的来说，根据内在亚型，非基因snp是异质的。使用更大的数据集以及内在亚型分类的进一步研究应该探索并确认这些变异在增加乳腺癌风险中的作用。
Current understanding of cancer genomes is mainly “gene centric.” However, GWAS have identified some nongenic breast cancer susceptibility loci. Validation studies showed inconsistent results among different populations. To further explore this inconsistency and to investigate associations by intrinsic subtype (Luminal-A, Luminal-B, ER−&PR−&HER2+, and triple negative) among Southern Han Chinese women, we genotyped five nongenic polymorphisms (2q35: rs13387042, 5p12: rs981782 and rs4415084, and 8q24: rs1562430 and rs13281615) using MassARRAY IPLEX platform in 609 patients and 882 controls. Significant associations with breast cancer were observed for rs13387042 and rs4415084 with OR (95% CI) per-allele 1.29 (1.00–1.66) and 0.83 (0.71–0.97), respectively. In subtype specific analysis, rs13387042 (per-allele adjusted OR = 1.36, 95% CI = 1.00–1.87) and rs4415084 (per-allele adjusted OR = 0.82, 95% CI = 0.66–1.00) showed slightly significant association with Luminal-A subtype; however, only rs13387042 was associated with ER−&PR−&HER2+ tumors (per-allele adjusted OR = 1.55, 95% CI = 1.00–2.40), and none of them were linked to Luminal-B and triple negative subtype. Collectively, nongenic SNPs were heterogeneous according to the intrinsic subtype. Further studies with larger datasets along with intrinsic subtype categorization should explore and confirm the role of these variants in increasing breast cancer risk.
影响因子：
3.7
作者：
Yu Y;Chen Z;Wang H;Zhang Y
通讯作者：
Zhang Y
影响因子：
3.7
作者：
Wang X;Zhang L;Chen Z;Ma Y;Zhao Y;Rewuti A;Zhang F;Fu D;Han Y
通讯作者：
Han Y