Chen Qian, Shi Rongliang, Liu Weiyan, Jiang Daowen
Department of General Surgery, Shanghai Minhang District Center Hospital, Shanghai Ruijin Hospital Corporation, Shanghai, People's Republic of China.
PLoS One. 2013 Aug 16;8(8):e72487. doi: 10.1371/journal.pone.0072487. eCollection 2013.
The association between rs11249433 polymorphism on 1p11 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 1p11-rs11249433 polymorphism and BC.
Databases including Pubmed, SCOPUS, ISI web of knowledge, Embase and Cochrane databases 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 15 articles involving 90,291 cases and 137,525 controls were included. In a combined analysis, the summary per-allele odds ratio (OR) for BC of 1p11-rs11249433 polymorphism was 1.09 (95% CI: 1.06-1.12; P<10(-5)). Significant associations were also observed under dominant and recessive genetic models. In the subgroup analysis by ethnicity, significantly increased risks were found in Caucasians; whereas no significant associations were found among Asians and Africans. In addition, our data indicate that 1p11-rs11249433 polymorphism is involved in BC susceptibility and confer its effect primarily in estrogen receptor-positive and progesterone receptor-positive tumors.
In conclusion, this meta-analysis demonstrated that the G allele of 1p11-rs11249433 is a risk factor associated with increased breast cancer susceptibility, but these associations vary in different ethnic populations.
1p11上的rs11249433多态性与乳腺癌（BC）之间的关联自通过全基因组关联方法首次被发现以来，已得到广泛评估。然而，结果尚无定论。为研究这种不一致性，我们对所有关于1p11-rs11249433多态性与BC关系的现有研究进行了荟萃分析。
检索包括PubMed、SCOPUS、ISI知识网络、Embase和Cochrane数据库在内的数据库以查找相关研究。使用比值比（OR）及其95%置信区间（CI）来评估关联强度。应用随机效应模型，处理异质性和发表偏倚。
共纳入15篇文章，涉及90291例病例和137525例对照。在综合分析中，1p11-rs11249433多态性与BC的每个等位基因汇总比值比（OR）为1.09（95%CI：1.06-1.12；P<10⁻⁵）。在显性和隐性遗传模型下也观察到显著关联。在按种族进行的亚组分析中，高加索人风险显著增加；而亚洲人和非洲人之间未发现显著关联。此外，我们的数据表明1p11-rs11249433多态性与BC易感性有关，且主要在雌激素受体阳性和孕激素受体阳性肿瘤中发挥作用。
总之，这项荟萃分析表明1p11-rs11249433的G等位基因是与乳腺癌易感性增加相关的危险因素，但这些关联在不同种族人群中有所不同。
