Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studies

S Raimondi, S Gandini, MC Fargnoli, V Bagnardi, P Maisonneuve, C Specchia, R Kumar, E Nagore, JL Han, J Hansson, PA Kanetsky, P Ghiorzo, NA Gruis, T Dwyer, L Blizzard, R Fernandez-De-Misa, W Branicki, T Debniak, N Morling, MT LandiG Palmieri, G Ribas, A Stratigos, L Cornelius, T Motokawa, S Anno, P Helsing, TH (Terence Hawkin) Wong, P Autier, JC Garcia-Borron, J Little, J Newton-Bishop, F Sera, Fan Liu, Manfred Kayser, Tamar Nijsten

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Abstract

Background: For complex diseases like cancer, pooled-analysis of individual data represents a powerful tool to investigate the joint contribution of genetic, phenotypic and environmental factors to the development of a disease. Pooled-analysis of epidemiological studies has many advantages over meta-analysis, and preliminary results may be obtained faster and with lower costs than with prospective consortia. Design and methods: Based on our experience with the study design of the Melanocortin-1 receptor (MC1R) gene, SKin cancer and Phenotypic characteristics (M-SKIP) project, we describe the most important steps in planning and conducting a pooled-analysis of genetic epidemiological studies. We then present the statistical analysis plan that we are going to apply, giving particular attention to methods of analysis recently proposed to account for between-study heterogeneity and to explore the joint Discussion: Methodological guidelines to correctly design and conduct pooled-analyses are needed to facilitate application of such methods, thus providing a better summary of the actual findings on specific fields.
Original languageEnglish
JournalBMC Medical Research Methodology
Volume12
DOIs
Publication statusPublished - 2012

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