Letter abstract
Nature Genetics 41, 324 - 328 (2009)
Published online: 15 February 2009 | doi:10.1038/ng.318
Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1
Wei Zheng1, Jirong Long1, Yu-Tang Gao2, Chun Li3,4, Ying Zheng5, Yong-Bin Xiang2, Wanqing Wen1, Shawn Levy6, Sandra L Deming1, Jonathan L Haines4, Kai Gu5, Alecia Malin Fair7, Qiuyin Cai1, Wei Lu5 & Xiao-Ou Shu1
We carried out a genome-wide association study among Chinese women to identify risk variants for breast cancer. After analyzing 607,728 SNPs in 1,505 cases and 1,522 controls, we selected 29 SNPs for a fast-track replication in an independent set of 1,554 cases and 1,576 controls. We further investigated four replicated loci in a third set of samples comprising 3,472 cases and 900 controls. SNP rs2046210 at 6q25.1, located upstream of the gene encoding estrogen receptor 
(ESR1), showed 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. We also found a similar, albeit weaker, association in an independent study comprising 1,591 cases and 1,466 controls of European ancestry (Ptrend = 0.01). These results strongly implicate 6q25.1 as a susceptibility locus for breast cancer.
- Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA.
- Department of Epidemiology, Shanghai Cancer Institute, Shanghai, 200032, China.
- Department of Biostatistics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA.
- Center for Human Genetics Research, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA.
- Shanghai Center for Disease Prevention and Control, Shanghai Institute of Preventive Medicine, Shanghai, 200336, China.
- Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA.
- Meharry Medical College, School of Medicine, Nashville, Tennessee 37208, USA.
Correspondence to: Wei Zheng1 e-mail: wei.zheng@vanderbilt.edu
MORE ARTICLES LIKE THIS
These links to content published by NPG are automatically generated.
RESEARCH
Intestinal tumor progression is promoted by decreased apoptosis and dysregulated Wnt signaling in Ceacam1 −/− miceOncogene Original Article
A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traitsNature Genetics Article (01 May 2009)
Association of BANK1 and TNFSF4 with systemic lupus erythematosus in Hong Kong ChineseGenes and Immunity Original Article
Global similarity with local differences in linkage disequilibrium between the Dutch and HapMap?CEU populationsEuropean Journal of Human Genetics Article Response
See all 64 matches for Research
