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2q35 区 rs13387042 多态性与激素受体状态与乳腺癌风险的定量评估。

Quantitative assessment of 2q35-rs13387042 polymorphism and hormone receptor status with breast cancer risk.

机构信息

Department of General Surgery, Jinshan Hospital, Fudan University, Shanghai, PR China.

出版信息

PLoS One. 2013 Jul 22;8(7):e66979. doi: 10.1371/journal.pone.0066979. Print 2013.

Abstract

BACKGROUND

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.

METHODS

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.

RESULTS

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.

CONCLUSIONS

Our findings demonstrated that rs13387042-A allele is a risk-conferring factors for the development of BC, especially in Asians, Caucasians and Hispanic whites.

摘要

背景

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。

方法

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。

结果

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。

结论

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/294c/3718795/d3c58be21b74/pone.0066979.g001.jpg

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