Submitted to: American Journal of Epidemiology
Publication Type: Review Article
Publication Acceptance Date: 8/1/2007
Publication Date: 10/15/2007
Citation: Higgins, J.P., Little, J., Ionnidis, J.P., Bray, M.S., Manolio, T.A., Smeeth, L., Sterne, J.A., Anagostelis, B., Butterworth, A.S., Danesh, J., Dezateux, C., Gallacher, J.E., Gwinn, M., Lewis, S.J., Minelli, C., Pharoah, P.D., Salanti, G., Sanderson, S., Smith, L.A., Taioli, E., Thompson, J.R., Thompson, S.G., Walker, N., Zimmern, R.L., Khoury, M.J. 2007. Turning the pump handle: Evolving methods for integrating the evidence on gene-disease association. American Journal of Epidemiology. 166(8):863-866. Interpretive Summary:
Technical Abstract: Recent findings from genome-wide association studies have demonstrated their considerable potential for identifying genetic determinants of common diseases of public health significance such as cancer, heart disease, and diabetes, but they have also highlighted the continued importance of targeted genotyping to replicate genome-wide association findings. Approaches to the integration of evidence in human genome epidemiology have evolved rapidly in the last few years. The combination of results from multiple studies, often known as meta-analysis, has a key role both in enhancing power and in characterizing relative risks. As evidence accumulates on genetic variants that confer identifiable effects on disease susceptibility, so does the need to summarize the evidence in digestible and accessible formats. Here, we describe how the Human Genome Epidemiology Network (HuGENet) is keeping abreast of developments in methods for collating and synthesizing the evidence.