A common polymorphism near the ESR1 gene is associated with risk of breast cancer: evidence from a case-control study and a meta-analysis.
A common polymorphism near the ESR1 gene is associated with risk of breast cancer: evidence from a case-control study and a meta-analysis.
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ESR1 基因附近的常见多态性与乳腺癌风险相关：病例对照研究和荟萃分析的证据
DOI：
10.1371/journal.pone.0052445
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发表时间：
2012
期刊：
影响因子：
3.7
通讯作者：
Huang T
中科院分区：
文献类型：
--
作者：
Guo H;Ming J;Liu C;Li Z;Zhang N;Cheng H;Wang W;Shi W;Shen N;Zhao Q;Li D;Yi P;Wang L;Wang R;Xin Y;Zhao X;Nie X;Huang T
全基因组关联研究报道，雌激素受体基因（ESR1） （rs2046210）附近的多态性与乳腺癌风险相关，其中a等位基因会增加风险。然而，考虑到最近重复研究中有争议的结果，我们在一个独立的中国汉族人群中进行了一项病例对照研究，并进行了荟萃分析，以澄清这种多态性与乳腺癌风险的关系。方法与结果初步开展了一项以医院为基础的病例对照研究，包括来自中国汉族人群的461例病例和537例对照，该研究显示rs2046210 A等位基因与乳腺癌风险显著相关，OR为1.32 （95% CI = 1.10-1.59）。随后，我们进行了一项整合当前研究和先前出版物的荟萃分析，共纳入53,379例病例和55,493例对照，以进一步证实我们的发现。同样，这种多态性与乳腺癌风险之间的显著关联也在总体人群中被观察到，特别是在亚洲人群中，每个a等位基因的or在总体人群中为1.14 (95% CI = 1.10-1.18)，在亚洲人群中为1.27 （95% CI = 1.23-1.31）。结论ESR1基因附近的常见多态性rs2046210与亚洲和欧洲人群的乳腺癌风险增加有关，但与非洲人群无关，尽管其生物学机制有待进一步研究。
Background Genome-wide association studies have reported that a polymorphism near the estrogen receptor gene (ESR1) (rs2046210) is associated with a risk of breast cancer, with the A allele conferring an increased risk. However, considering the controversial results from more recent replicated studies, we conducted a case-control study in an independent Chinese Han population and a meta-analysis to clarify the association of this polymorphism with breast cancer risk. Method and Findings A hospital-based case-control study including 461 cases and 537 controls from a Chinese Han population was conducted initially, and this study showed that the rs2046210 A allele was significantly associated with breast cancer risk, with an OR of 1.32 (95% CI = 1.10–1.59). Subsequently, a meta-analysis integrating the current study and previous publications with a total of 53,379 cases and 55,493 controls was performed to further confirm our findings. Similarly, a significant association between this polymorphism and breast cancer risk was also observed in the overall population especially among Asians, with ORs for per A allele of 1.14 (95% CI = 1.10–1.18) in the overall population and 1.27 (95% CI = 1.23–1.31) in the Asian population. Conclusion Our results provide strong evidence to support that the common polymorphism near the ESR1 gene, rs2046210, is associated with an increased risk of breast cancer in Asian and European populations but not in Africans, although the biological mechanisms need to be further investigated.
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DOI：
10.1158/1055-9965.epi-10-0054
发表时间：
2010-09
期刊：
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
影响因子：
--
作者：
Long J;Shu XO;Cai Q;Gao YT;Zheng Y;Li G;Li C;Gu K;Wen W;Xiang YB;Lu W;Zheng W
通讯作者：
Zheng W
影响因子：
3.8
作者：
Han, Jing;Jiang, Tao;Shen, Hongbing
通讯作者：
Shen, Hongbing
DOI：
10.1016/0197-2456(86)90046-2
发表时间：
1986-09-01
期刊：
CONTROLLED CLINICAL TRIALS
影响因子：
--
作者：
DERSIMONIAN, R;LAIRD, N
通讯作者：
LAIRD, N
影响因子：
64.8
作者：
Asselin-Labat, Marie-Liesse;Vaillant, Francois;Visvader, Jane E.
通讯作者：
Visvader, Jane E.
影响因子：
3.8
作者：
Li, Ni;Dong, Jing;Dai, Min
通讯作者：
Dai, Min