Quantitative assessment of common genetic variants on chromosome 5p12 and hormone receptor status with breast cancer risk.

Quantitative assessment of common genetic variants on chromosome 5p12 and hormone receptor status with breast cancer risk.
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DOI:
10.1371/journal.pone.0072154
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发表时间:
2013
期刊:
影响因子:
3.7
通讯作者:
Zhang Y
Zhang Y
中科院分区:
综合性期刊3区
文献类型:
--
作者:
Yu Y;Chen Z;Wang H;Zhang Y

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乳腺癌(BC)的几项全基因组关联研究报道了一个新的易感位点5p12的类似发现。此后,多项研究报道5p12染色体上的rs10941679、rs4415084和rs981782多态性与BC风险有关。然而,这些研究得出了相互矛盾的结果。为了获得更精确的关系估计,对来自24项已发表病例对照研究的131,983例BC病例和200,314例对照进行了荟萃分析。总体而言,当所有研究汇集到荟萃分析中时,显著升高的BC风险与rs10941679、rs4415084和rs981782风险等位基因相关。在种族亚组分析中,发现高加索人和东亚人rs10941679和rs4415084多态性的风险显著增加,而在非洲和其他种族人群中没有观察到这两种多态性的显著关联。5p12-rs981782仅在白种人中检测到显著相关性。此外,我们发现5p12上的rs10941679和rs4415084具有风险,仅对雌激素受体(ER)阳性肿瘤具有风险,每等位基因OR分别为1.16 (95% CI: 1.11-1.21; P<10−5)和1.14 (95% CI: 1.09-1.19; P<10−5)。种族被认为是研究间异质性的潜在来源。总之,本荟萃分析表明,常见变异是与BC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。
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.
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