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Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1
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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 alpha (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 x 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 (P(trend) = 0.01). These results strongly implicate 6q25.1 as a susceptibility locus for breast cancer.
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“The 6q25.1 region is a well-established susceptibility locus for breast cancer in both Europeans and Asians274344.”
From Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism (2017) · cites this paper as [44]
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Metadata
- Authors
- Zheng, W., Long, J., Gao, Y.-T., Li, C., Zheng, Y., Xiang, Y.-B., Wen, W., Levy, S., Deming, S. L., Haines, J. L., Gu, K., Fair, A. M., Cai, Q., Lu, W., & Shu, X.-O.
- Affiliations
- Vanderbilt University (US)
- Shanghai Cancer Institute (CN)
- Shanghai Municipal Center For Disease Control Prevention (CN)
- Meharry Medical College (US)
- Corresponding author
- Zheng, Wei
- ORCID
- Venue
- Nature Genetics
- Published
- 2009-02-15
- Volume
- 41
- Issue
- 3
- Pages
- 324-328
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC2754845
- OpenAlex
- W2001701937
- Cited by
- 541
- References
- 27
- Citations by year
- 2026: 4 · 2025: 9 · 2024: 6 · 2023: 14 · 2022: 13 · 2021: 16 · 2020: 19 · 2019: 21 · 2018: 16 · 2017: 21 · 2016: 43 · 2015: 30 · 2014: 48 · 2013: 59 · 2012: 68
- FWCI
- 43.04
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- U.S. Department of Defense
- National Institutes of Health
- National Cancer Institute (R01CA092585, R01CA064277, P30 CA 68485, Z01BC011118, R01 CA70867, R01CA122756, R01CA070867, R01CA64277, R01CA090899, R01CA124558, R01CA118229, R01 CA92585, R01CA100374, P30CA068485, R01-CA90899)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Endocrinology › Estrogen and related hormone effects
- Keywords
- breast cancer, estrogen receptor 1, ESR1, genetic susceptibility loci, single nucleotide polymorphisms, Chinese women, European ancestry
- MeSH terms
- Adult, Breast Neoplasms, Chromosomes, Human, Pair 6, Female, Gene Frequency, Humans, Middle Aged, Risk Factors, Linkage Disequilibrium, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Estrogen Receptor alpha, Genome-Wide Association Study
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