Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

Erythrocyte measures are heritable and have important health implications, yet their genetic determinants are largely unknown. We performed genome-wide association analyses in 24,167 European-ancestry individuals for six erythrocyte traits and identified associations at 23 loci (P values 5×10(-8) to...

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Detalles Bibliográficos
Autores principales: Ganesh, Santhi K., Zakai, Neil A., van Rooij, Frank J A., Soranzo, Nicole, Smith, Albert V., Nalls, Michael A., Chen, Ming-Huei, Kottgen, Anna, Glazer, Nicole L., Dehghan, Abbas, Kuhnel, Brigitte, Aspelund, Thor, Yang, Qiong, Tanaka, Toshiko, Jaffe, Andrew, Bis, Joshua C M., Verwoert, Germaine C., Teumer, Alexander, Fox, Caroline S., Guralnik, Jack M., Ehret, Georg B., Rice, Kenneth, Felix, Janine F., Rendon, Augusto, Eiriksdottir, Gudny, Levy, Daniel, Patel, Kushang V., Boerwinkle, Eric, Rotter, Jerome I., Hofman, Albert, Sambrook, Jennifer G., Hernandez, Dena, Zheng, Gang, Bandinelli, Stefania, Singleton, Andrew B., Coresh, Josef, Lumley, Thomas, Uitterlinden, André G., vanGils, Janine M., Launer, Lenore J., Cupples, L. Adrienne, Oostra, Ben A., Zwaginga, Jaap-Jan, Ouwehand, Willem H., Thein, Swee-Lay, Meisinger, Christa, Deloukas, Panos, Nauck, Matthias, Spector, Tim, Gieger, Christian, Gudnason, Vilmundur, van Duijn, Cornelia M., Psaty, Bruce M., Ferrucci, Luigi, Chakravarti, Aravinda, Greinacher, Andreas, O’Donnell, Christopher J., Witteman, Jacqueline C M., Furth, Susan, Cushman, Mary, Harris, Tamara B., Lin, Jing-Ping
Formato: Texto
Lenguaje:English
Publicado: 2009
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2778265/
https://www.ncbi.nlm.nih.gov/pubmed/19862010
http://dx.doi.org/10.1038/ng.466
Descripción
Sumario:Erythrocyte measures are heritable and have important health implications, yet their genetic determinants are largely unknown. We performed genome-wide association analyses in 24,167 European-ancestry individuals for six erythrocyte traits and identified associations at 23 loci (P values 5×10(-8) to 1×10(-57)). Replication testing in an independent set of 9,456 European-ancestry individuals showed strong evidence of association in all 23 loci in meta-analysis of the discovery and replication cohorts. Our findings include previously identified loci (HBS1L/MYB, HFE, TMPRSS6, TFR2, SPTA1) and novel associations (EPO, TFRC, SH2B3, and 15 other loci). This study has identified novel determinants of erythrocyte traits, offering insight into common variants underlying variation in erythrocyte measures.

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