Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25

Laura Fejerman, Nasim Ahmadiyeh, Donglei Hu, Scott Huntsman, Kenneth B. Beckman, Jennifer L. Caswell, Karen Tsung, Esther M. John, Gabriela Torres-Mejia, Luis Carvajal-Carmona, María Magdalena Echeverry, Anna Marie D. Tuazon, Carolina Ramirez, Christopher R. Gignoux, Celeste Eng, Esteban Gonzalez-Burchard, Brian Henderson, Loic Le Marchand, Charles Kooperberg, Lifang Hou, Ilir Agalliu, Peter Kraft, Sara Lindström, Eliseo J. Perez-Stable, Christopher A. Haiman () and Elad Ziv ()
Additional contact information
Laura Fejerman: Institute of Human Genetics, University of California San Fancisco
Nasim Ahmadiyeh: University of California San Francisco
Donglei Hu: Institute of Human Genetics, University of California San Fancisco
Scott Huntsman: Institute of Human Genetics, University of California San Fancisco
Kenneth B. Beckman: University of Minnesota Genomics Center
Jennifer L. Caswell: Institute of Human Genetics, University of California San Fancisco
Karen Tsung: University of California San Francisco
Esther M. John: Cancer Prevention Institute of California
Gabriela Torres-Mejia: National Institute of Public Health
Luis Carvajal-Carmona: University of California Davis
María Magdalena Echeverry: University of California Davis
Anna Marie D. Tuazon: University of California Davis
Carolina Ramirez: Research Group, Citogenética Filogenia y Evolución de Poblaciones, University of Tolima
Christopher R. Gignoux: Stanford University
Celeste Eng: Institute for Human Genetics, University of California San Francisco
Esteban Gonzalez-Burchard: Institute for Human Genetics, University of California San Francisco
Brian Henderson: Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California
Loic Le Marchand: University of Hawaii Cancer Center
Charles Kooperberg: Fred Hutchinson Cancer Research Center
Lifang Hou: Robert H. Lurie Comprehensive Cancer Center, Feinberg School of Medicine, Northwestern University
Ilir Agalliu: Albert Einstein College of Medicine
Peter Kraft: Program in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health
Sara Lindström: Program in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health
Eliseo J. Perez-Stable: Institute of Human Genetics, University of California San Fancisco
Christopher A. Haiman: Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California
Elad Ziv: Institute of Human Genetics, University of California San Fancisco

Nature Communications, 2014, vol. 5, issue 1, 1-8

Abstract: Abstract The genetic contributions to breast cancer development among Latinas are not well understood. Here we carry out a genome-wide association study of breast cancer in Latinas and identify a genome-wide significant risk variant, located 5′ of the Estrogen Receptor 1 gene (ESR1; 6q25 region). The minor allele for this variant is strongly protective (rs140068132: odds ratio (OR) 0.60, 95% confidence interval (CI) 0.53–0.67, P=9 × 10−18), originates from Indigenous Americans and is uncorrelated with previously reported risk variants at 6q25. The association is stronger for oestrogen receptor-negative disease (OR 0.34, 95% CI 0.21–0.54) than oestrogen receptor-positive disease (OR 0.63, 95% CI 0.49–0.80; P heterogeneity=0.01) and is also associated with mammographic breast density, a strong risk factor for breast cancer (P=0.001). rs140068132 is located within several transcription factor-binding sites and electrophoretic mobility shift assays with MCF-7 nuclear protein demonstrate differential binding of the G/A alleles at this locus. These results highlight the importance of conducting research in diverse populations.

Date: 2014
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DOI: 10.1038/ncomms6260

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