Department of General Surgery, Jinshan Hospital, Fudan University, Shanghai, PR China.
PLoS One. 2013 Jul 22;8(7):e66979. doi: 10.1371/journal.pone.0066979. Print 2013.
The association between rs13387042 polymorphism on 2q35 and breast cancer (BC) has been widely evaluated since it was first identified through genome-wide association approach. However, the results have been inconclusive. To investigate this inconsistency, we performed a meta-analysis of all available studies dealing with the relationship between the 2q35-rs13387042 polymorphism and BC.
Databases including MEDLINE, PubMed, EMBASE, ISI web of science and CNKI (China National Knowledge Infrastructure) were searched to find relevant studies. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of association. The random-effects model was applied, addressing heterogeneity and publication bias.
A total of 24 articles involving 99,772 cases and 164,985 controls were included. In a combined analysis, the summary per-allele odds ratio (OR) for BC of 2q35-rs13387042 polymorphism was 1.13 (95% CI: 1.11-1.16; P<10(-5)). Significant associations were also detected under co-dominant, dominant and recessive genetic models. In the subgroup analysis by ethnicity, significantly increased risks were found in Asians, Caucasians and Hispanic whites for the polymorphism in all comparisons; whereas no significant associations were found among Africans. In addition, we find 2q35-rs13387042 polymorphism conferred significantly risks for both ER-positive and ER-negative tumors. Furthermore, significant associations were also detected both in PR-positive and PR-negative cancer.
Our findings demonstrated that rs13387042-A allele is a risk-conferring factors for the development of BC, especially in Asians, Caucasians and Hispanic whites.
自通过全基因组关联方法首次发现 2q35 上 rs13387042 多态性与乳腺癌（BC）之间存在关联以来，人们广泛评估了它的相关性。然而，结果尚无定论。为了研究这种不一致性，我们对所有涉及 2q35-rs13387042 多态性与 BC 之间关系的研究进行了荟萃分析。
检索了 MEDLINE、PubMed、EMBASE、ISI web of science 和中国知网（CNKI）数据库，以寻找相关研究。使用比值比（OR）及其 95%置信区间（CI）来评估关联的强度。应用随机效应模型解决异质性和发表偏倚。
共纳入 24 项研究，涉及 99772 例病例和 164985 例对照。综合分析显示，2q35-rs13387042 多态性与 BC 的每等位基因优势比（OR）为 1.13（95%CI：1.11-1.16；P<10(-5)）。在共显性、显性和隐性遗传模型下也观察到了显著的关联。按种族亚组分析，在所有比较中，亚洲人、白种人和西班牙裔白人的该多态性都存在明显的风险增加；而在非洲人中则没有发现显著的关联。此外，我们发现 2q35-rs13387042 多态性与 ER 阳性和 ER 阴性肿瘤均显著相关。此外，在 PR 阳性和 PR 阴性癌症中也观察到了显著的关联。
我们的研究结果表明，rs13387042-A 等位基因是 BC 发病的一个危险因素，特别是在亚洲人、白种人和西班牙裔白人中。
