Consistent Directions of Effect for Established Type 2 Diabetes Risk Variants Across Populations. Haiman, C. A., Fesinmeyer, M. D., Spencer, K. L., Bůžková, P., Voruganti, V. S., Wan, P., Haessler, J., Franceschini, N., Monroe, K. R., Howard, B. V., Jackson, R. D., Florez, J. C., Kolonel, L. N., Buyske, S., Goodloe, R. J., Liu, S., Manson, J. E., Meigs, J. B., Waters, K., Mukamal, K. J., Pendergrass, S. A., Shrader, P., Wilkens, L. R., Hindorff, L. A., Ambite, J. L., North, K. E., Peters, U., Crawford, D. C., Le Marchand, L., & Pankow, J. S. Diabetes, 61(6):1642-1647, 2012.
Consistent Directions of Effect for Established Type 2 Diabetes Risk Variants Across Populations [link]Paper  doi  abstract   bibtex   
Common genetic risk variants for type 2 diabetes (T2D) have primarily been identified in populations of European and Asian ancestry. We tested whether the direction of association with 20 T2D risk variants generalizes across six major racial/ethnic groups in the U.S. as part of the Population Architecture using Genomics and Epidemiology Consortium (16,235 diabetes case and 46,122 control subjects of European American, African American, Hispanic, East Asian, American Indian, and Native Hawaiian ancestry). The percentage of positive (odds ratio [OR] >1 for putative risk allele) associations ranged from 69% in American Indians to 100% in European Americans. Of the nine variants where we observed significant heterogeneity of effect by racial/ethnic group (Pheterogeneity < 0.05), eight were positively associated with risk (OR >1) in at least five groups. The marked directional consistency of association observed for most genetic variants across populations implies a shared functional common variant in each region. Fine-mapping of all loci will be required to reveal markers of risk that are important within and across populations.
@article{haiman2012,
author = {Haiman, Christopher A. and Fesinmeyer, Megan D. and Spencer, Kylee L. and Bůžková, Petra and Voruganti, V. Saroja and Wan, Peggy and Haessler, Jeff and Franceschini, Nora and Monroe, Kristine R. and Howard, Barbara V. and Jackson, Rebecca D. and Florez, Jose C. and Kolonel, Laurence N. and Buyske, Steven and Goodloe, Robert J. and Liu, Simin and Manson, JoAnn E. and Meigs, James B. and Waters, Kevin and Mukamal, Kenneth J. and Pendergrass, Sarah A. and Shrader, Peter and Wilkens, Lynne R. and Hindorff, Lucia A. and Ambite, Jos\'{e} Luis and North, Kari E. and Peters, Ulrike and Crawford, Dana C. and Le Marchand, Loic and Pankow, James S.}, 
title = {Consistent Directions of Effect for Established Type 2 Diabetes Risk Variants Across Populations}, 
volume = {61}, 
number = {6}, 
pages = {1642-1647}, 
year = {2012}, 
doi = {10.2337/db11-1296}, 
abstract ={Common genetic risk variants for type 2 diabetes (T2D) have primarily been identified in populations of European and Asian ancestry. We tested whether the direction of association with 20 T2D risk variants generalizes across six major racial/ethnic groups in the U.S. as part of the Population Architecture using Genomics and Epidemiology Consortium (16,235 diabetes case and 46,122 control subjects of European American, African American, Hispanic, East Asian, American Indian, and Native Hawaiian ancestry). The percentage of positive (odds ratio [OR] >1 for putative risk allele) associations ranged from 69% in American Indians to 100% in European Americans. Of the nine variants where we observed significant heterogeneity of effect by racial/ethnic group (Pheterogeneity < 0.05), eight were positively associated with risk (OR >1) in at least five groups. The marked directional consistency of association observed for most genetic variants across populations implies a shared functional common variant in each region. Fine-mapping of all loci will be required to reveal markers of risk that are important within and across populations.}, 
URL = {http://diabetes.diabetesjournals.org/content/61/6/1642.abstract}, 
eprint = {http://diabetes.diabetesjournals.org/content/61/6/1642.full.pdf+html}, 
journal = {Diabetes} 
}

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