Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1.
Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1.
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DOI：
10.1038/ng.318
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发表时间：
2009-03
期刊：
影响因子：
30.8
通讯作者：
Shu, Xiao-Ou
中科院分区：
文献类型：
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作者：
Zheng, Wei;Long, Jirong;Gao, Yu-Tang;Li, Chun;Zheng, Ying;Xiang, Yong-Bin;Wen, Wanqing;Levy, Shawn;Deming, Sandra L.;Haines, Jonathan L.;Gu, Kai;Fair, Alecia Malin;Cai, Qiuyin;Lu, Wei;Shu, Xiao-Ou
在中国女性中进行了一项全基因组关联研究，以确定乳腺癌的风险变异。通过分析1505例病例和1522例对照的607，728个SNP，我们选择了29个有希望的SNP，用于在1554例病例和1576例对照的独立组中进行快速复制。第三组样本包括3472例病例和900例对照，进一步研究了四个重复的位点。位于6q25.1的SNP rs 2046210位于雌激素受体1基因（ESR 1）的上游，在所有三个阶段中与乳腺癌表现出强烈且一致的相关性。在所有三个阶段样本的合并分析中，基因型A/G和A/A与G/G的校正比值比（95%CI）分别为1.36（1.24-1.49）和1.59（1.40-1.82）（趋势P，2.0×10−15）。在一项包括1591例欧洲血统病例和1466例欧洲血统对照的独立研究中也发现了类似的关联，尽管较弱（P趋势，0.01）。这些结果为6q25.1作为乳腺癌易感基因提供了强有力的证据。
A genome-wide association study was conducted among Chinese women to identify risk variants for breast cancer. By analyzing 607,728 SNPs in 1505 cases and 1522 controls, we selected 29 promising SNPs for a fast-track replication in an independent set of 1554 cases and 1576 controls. Four replicated loci were further investigated in a third set of samples including 3472 cases and 900 controls. SNP rs2046210 at 6q25.1, located upstream of the estrogen receptor 1 gene (ESR1), exhibited strong and consistent association with breast cancer across all three stages. Adjusted odds ratio (95% CI) were 1.36 (1.24–1.49) and 1.59 (1.40–1.82), respectively, for genotypes A/G and A/A versus G/G (P for trend, 2.0×10−15) in the pooled analysis of samples from all three stages. A similar, although weaker, association was also found in an independent study including 1591 cases and 1466 controls of European ancestry (Ptrend, 0.01). These results provide strong evidence implicating 6q25.1 as a susceptibility locus for breast cancer.
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影响因子：
2.1
作者：
Lin, DY;Zeng, D;Millikan, R
通讯作者：
Millikan, R
DOI：
10.1093/jnci/djn037
发表时间：
2008-03-19
期刊：
JOURNAL OF THE NATIONAL CANCER INSTITUTE
影响因子：
--
作者：
Frank, Bernd;Wiestler, Miriam;Burwinkel, Barbara
通讯作者：
Burwinkel, Barbara
影响因子：
120.7
作者：
Walsh, T;Casadei, S;King, MC
通讯作者：
King, MC
影响因子：
30.8
作者：
Stacey, Simon N.;Manolescu, Andrei;Stefansson, Kari
通讯作者：
Stefansson, Kari
影响因子：
56.9
作者：
Gabriel, SB;Schaffner, SF;Altshuler, D
通讯作者：
Altshuler, D