TY - JOUR
T1 - Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25
AU - Fejerman, Laura
AU - Ahmadiyeh, Nasim
AU - Hu, Donglei
AU - Huntsman, Scott
AU - Beckman, Kenneth B.
AU - Caswell, Jennifer L.
AU - Tsung, Karen
AU - John, Esther M.
AU - Torres-Mejia, Gabriela
AU - Carvajal-Carmona, Luis
AU - Echeverry, María Magdalena
AU - Tuazon, Anna Marie D.
AU - Ramirez, Carolina
AU - Bohórquez, Mabel Elena
AU - Prieto, Rodrigo
AU - Criollo, Ángel
AU - Ramírez, Carolina
AU - Estrada, Ana Patricia
AU - Suáres, John Jairo
AU - Mateus, Gilbert
AU - Castro, Jorge Mario
AU - Sánchez, Yesid
AU - Murillo, Raúl
AU - Lucia Serrano, Martha
AU - Sanabria, Carolina
AU - Olaya, Justo Germán
AU - Vélez, Alejandro
AU - Carmona, Jenny Andrea
AU - Rodríguez, Nancy Guerrero
AU - Serón Sousa, Cristina
AU - Mendez, Cesar Eduardo Alvarez
AU - Galviz, Ana Isabel Orduz
AU - Gignoux, Christopher R.
AU - Eng, Celeste
AU - Gonzalez-Burchard, Esteban
AU - Henderson, Brian
AU - Marchand, Loic Le
AU - Kooperberg, Charles
AU - Hou, Lifang
AU - Agalliu, Ilir
AU - Kraft, Peter
AU - Lindström, Sara
AU - Perez-Stable, Eliseo J.
AU - Haiman, Christopher A.
AU - Ziv, Elad
N1 - Publisher Copyright:
© 2014 Macmillan Publishers Limited. All rights reserved.
PY - 2014/10/20
Y1 - 2014/10/20
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/84923773863
U2 - 10.1038/ncomms6260
DO - 10.1038/ncomms6260
M3 - Article
C2 - 25327703
AN - SCOPUS:84923773863
SN - 2041-1723
VL - 5
JO - Nature Communications
JF - Nature Communications
M1 - 5260
ER -
ODS 3: Salud y bienestar