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Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25 / Alejandro Vélez Hoyos
Título : Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25 Tipo de documento : documento electrónico Autores : Alejandro Vélez Hoyos, Fecha de publicación : 2014 Títulos uniformes : Nature Communications Idioma : Inglés (eng) Resumen : 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. Mención de responsabilidad : 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, COLUMBUS Consortium; 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, Elad Ziv Referencia : Nat Commun. 2014 Oct 20;5:5260. DOI (Digital Object Identifier) : 10.1038/ncomms6260 PMID : 25327703 Derechos de uso : CC BY En línea : https://www.nature.com/articles/ncomms6260 Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=3838 Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25 [documento electrónico] / Alejandro Vélez Hoyos, . - 2014.
Obra : Nature Communications
Idioma : Inglés (eng)
Resumen : 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. Mención de responsabilidad : 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, COLUMBUS Consortium; 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, Elad Ziv Referencia : Nat Commun. 2014 Oct 20;5:5260. DOI (Digital Object Identifier) : 10.1038/ncomms6260 PMID : 25327703 Derechos de uso : CC BY En línea : https://www.nature.com/articles/ncomms6260 Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=3838 Reserva
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Código de barras Número de Ubicación Tipo de medio Ubicación Sección Estado DD000416 AC-2014-082 Archivo digital Producción Científica Artículos científicos Disponible Documentos electrónicos
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