Designing candidate gene and genome-wide case-control association studies.

Journal article

This protocol describes how to appropriately design a genetic association case-control study, either focusing on a candidate gene (CG) or region or implementing a genome-wide approach. The steps described involve: (i) defining the case phenotype in adequate detail; (ii) checking the heritability of the disease in question; (iii) considering whether a population-based study is the appropriate design for the research question; (iv) the appropriate selection of controls; (v) sample size calculations and (vi) giving due consideration to whether it is a de novo or replication study. General guidelines are given, as well as specific examples of a CG and a genome-wide association study into type 2 diabetes. Software and websites used in this protocol include the International HapMap Consortium website, Genetic Power Calculator, CaT, and SNPSpD. Running each of the programs takes only a few seconds; the rate-limiting steps involve thinking through the designs and parameters in the disease models.

Authors: Zondervan, K; Cardon, L

• Publication status: Published
• Journal: Nature protocols
• Volume: 2
• Issue: 10
• Pages: 2492-2501
• Publication date: 2007-01-01
• DOI: 10.1038/nprot.2007.366
• EISSN: 1750-2799
• ISSN: 1754-2189
• Language: English
• Keywords: Sample Size; Software; Genetic Predisposition to Disease; Patient Selection; Humans; Genomics; Epidemiologic Research Design; Case-Control Studies; Polymorphism, Genetic