Family-Based Association Studies

  • Frank DudbridgeEmail author
Part of the Methods in Molecular Biology book series (MIMB, volume 713)


Family-based association methods are useful because they offer improved matching of controls to cases, with the result that they are not susceptible to confounding by population stratification. They also allow analysis of parent-of-origin effects and maternal–fetal interactions. The transmission/disequilibrium test (TDT) is a test of linkage and association that is equivalent to a matched case/control analysis, from which various extensions are possible. A logistic regression formulation leads to modifications for multiallelic markers, haplotypes, and quantitative traits. Some pitfalls are described, for the situations in which one parent is missing, genotyping errors have occurred, and haplotype phase is uncertain. The problem of testing association in general pedigrees is discussed, with particular reference to sib pairs without parents.

Key words

TDT Matched case/control Population stratification Linkage Within-family test 


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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  1. 1.Department Non-communicable Disease EpidemiologyLondon School of Hygiene and Tropical MedicineLondonUK

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