Department of Breast Surgery, Huangpu Central Hospital of Shanghai, Shanghai, People's Republic of China.
PLoS One. 2013 Aug 19;8(8):e72154. doi: 10.1371/journal.pone.0072154. eCollection 2013.
Several genome-wide association studies on breast cancer (BC) have reported similar findings of a new susceptibility locus, 5p12. After that, a number of studies reported that the rs10941679, rs4415084, and rs981782 polymorphism in chromosome 5p12 has been implicated in BC risk. However, the studies have yielded contradictory results. To derive a more precise estimation of the relationship, a meta-analysis of 131,983 BC cases and 200,314 controls from 24 published case-control studies was performed. Overall, significantly elevated BC risk was associated with rs10941679, rs4415084, and rs981782 risk allele when all studies were pooled into the meta-analysis. In the subgroup analysis by ethnicity, significantly increased risks were found for the rs10941679 and rs4415084 polymorphism among Caucasians and East Asians, while no significant associations were observed for the two polymorphisms in African and other ethnic populations. For 5p12-rs981782, significant associations were only detected among Caucasians. In addition, we found that rs10941679 and rs4415084 on 5p12 confer risk, exclusively for estrogen receptor (ER)-positive tumors with per-allele OR of 1.16 (95% CI: 1.11-1.21; P<10(-5)) and of 1.14 (95% CI: 1.09-1.19; P<10(-5)) respectively. Ethnicity was identified as a potential source of between-study heterogeneity. In conclusion, this meta-analysis demonstrated that common variations are a risk factor associated with increased BC susceptibility, but these associations vary in different ethnic populations.
几项关于乳腺癌（BC）的全基因组关联研究报告了一个新的易感位点 5p12 的类似发现。之后，许多研究报告称，染色体 5p12 上的 rs10941679、rs4415084 和 rs981782 多态性与 BC 风险有关。然而，这些研究的结果存在矛盾。为了更准确地评估这种关系，对 24 项已发表的病例对照研究中的 131983 例 BC 病例和 200314 例对照进行了荟萃分析。总的来说，当所有研究都纳入荟萃分析时，rs10941679、rs4415084 和 rs981782 风险等位基因与 BC 风险显著升高相关。在按种族进行的亚组分析中，在白人和东亚人群中，rs10941679 和 rs4415084 多态性与风险显著增加相关，而在非洲和其他种族人群中未观察到这两种多态性与风险的显著相关性。对于 5p12-rs981782，仅在白人群体中检测到显著相关性。此外，我们发现 5p12 上的 rs10941679 和 rs4415084 仅对雌激素受体（ER）阳性肿瘤具有风险，每个等位基因的比值比（OR）为 1.16（95%CI：1.11-1.21；P<10(-5)）和 1.14（95%CI：1.09-1.19；P<10(-5)）。种族被确定为研究间异质性的潜在来源。总之，这项荟萃分析表明，常见变异是与增加的 BC 易感性相关的风险因素，但这些关联在不同的种族群体中存在差异。
