Family-based designs in the age of large-scale gene-association studies

Nat Rev Genet. 2006 May;7(5):385-94. doi: 10.1038/nrg1839.

Abstract

Both population-based and family-based designs are commonly used in genetic association studies to locate genes that underlie complex diseases. The simplest version of the family-based design--the transmission disequilibrium test--is well known, but the numerous extensions that broaden its scope and power are less widely appreciated. Family-based designs have unique advantages over population-based designs, as they are robust against population admixture and stratification, allow both linkage and association to be tested for and offer a solution to the problem of model building. Furthermore, the fact that family-based designs contain both within- and between-family information has substantial benefits in terms of multiple-hypothesis testing, especially in the context of whole-genome association studies.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Case-Control Studies
  • Family*
  • Genetic Techniques*
  • Genetics, Population
  • Genome, Human
  • Haplotypes
  • Humans
  • Linkage Disequilibrium
  • Models, Genetic
  • Pedigree
  • Phenotype
  • Quantitative Trait, Heritable