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

Author

Listed:
  • 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
    Stanford Cancer Institute, Stanford University School of Medicine)

  • Gabriela Torres-Mejia

    (National Institute of Public Health)

  • Luis Carvajal-Carmona

    (University of California Davis
    Research Group, Citogenética Filogenia y Evolución de Poblaciones, University of Tolima)

  • 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)

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.

Suggested Citation

  • 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 Magdale, 2014. "Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25," Nature Communications, Nature, vol. 5(1), pages 1-8, December.
    • Handle: RePEc:nat:natcom:v:5:y:2014:i:1:d:10.1038_ncomms6260
    DOI: 10.1038/ncomms6260
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