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

Citation

Raimondi, S and Gandini, S and Fargnoli, MC and Bagnardi, V and Maisonneuve, P and Specchia, C and Kumar, R and Nagore, E and Han, J and Hansson, J and Kanetsky, PA and Ghiorzo, P and Gruis, NA and Dwyer, T and Blizzard, L and Fernandez-De-Misa, R and Branicki, W and Debniak, T and Morling, N and Landi, MT and Palmieri, G and Ribas, G and Stratigos, A and Cornelius, L and Motokawa, T and Anno, S and Helsing, P and Wong, TH and Autier, P and Garcia-Borron, JC and Little, J and Newton-Bishop, J and Sera, F and Liu, F and Kayser, M and Nijsten, T, GEM Study Group on behalf of the M-SKIP Study Group, Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studies, BMC Medical Research Methodology, 12 Article 116. ISSN 1471-2288 (2012) [Refereed Article]


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Licensed under Creative Commons Attribution 2.0 Generic (CC BY 2.0) http://creativecommons.org/licenses/by/2.0/

DOI: doi:10.1186/1471-2288-12-116

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 contribution of genetic, phenotypic and environmental factors in the development of a disease. Within the M-SKIP project, data on 10,959 skin cancer cases and 14,785 controls from 31 international investigators were checked for quality and recoded for standardization. We first proposed to fit the aggregated data with random-effects logistic regression models. However, for the M-SKIP project, a two-stage analysis will be preferred to overcome the problem regarding the availability of different study covariates. The joint contribution of MC1R variants and phenotypic characteristics to skin cancer development will be studied via logic regression modeling.

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.

Item Details

Item Type:Refereed Article
Keywords:genetic epidemiology, melanoma, meta-analysis, pooled-analysis, skin cancer, study design
Research Division:Medical and Health Sciences
Research Group:Public Health and Health Services
Research Field:Epidemiology
Objective Division:Health
Objective Group:Public Health (excl. Specific Population Health)
Objective Field:Public Health (excl. Specific Population Health) not elsewhere classified
Author:Blizzard, L (Professor Leigh Blizzard)
ID Code:82221
Year Published:2012
Web of Science® Times Cited:2
Deposited By:Menzies Institute for Medical Research
Deposited On:2013-01-22
Last Modified:2017-11-06
Downloads:300 View Download Statistics

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