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A new transmission test for affected sib-pair families

By Hongyan Xu and Varghese George


Family-based association approaches such as the transmission-disequilibrium test (TDT) are used extensively in the study of genetic traits because they are generally robust to the presence of population structure. However, these approaches necessarily involve recruitment of families, which is more costly and time-consuming than sampling unrelated individuals in the population-based approaches. Therefore, a family-based approach, which has high power, would be appealing because of the gain in time and cost due to the reduced sample size that is required to attain adequate power. Here we introduce a new family-based transmission test using the joint transmission status from affected sib pairs. We show that by including the transmission status of both siblings, our method gives higher power than the TDT design, while maintaining the correct type I error rate. We use the simulated data from affected sib-pair families with rheumatoid arthritis provided by Genetic Analysis Workshop 15 to illustrate our approach

Topics: Proceedings
Publisher: BioMed Central
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Provided by: PubMed Central

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  1. (2000). A unified approach to adjusting association tests for population admixture with arbitrary pedigree structure and arbitrary missing marker information. Hum Hered
  2. (2007). An entropy-based genome-wide transmission/disequilibrium test. Hum Genet
  3. (1997). BS: Tests for linkage and association in nuclear families.
  4. (1998). Ewens WJ: A sibship test for linkage in the presence of association: the sib transmission/disequilibrium test.
  5. (1993). Ewens WJ: Transmission test for linkage disequilibrium: the insulin gene region and insulindependent diabetes mellitus (IDDM).
  6. (2002). Laud PW: A Bayesian approach to the transmission/ disequilibrium test for binary traits. Genet Epidemiol
  7. (2000). LR: Pedigree tests of transmission disequilibrium.
  8. (2000). NL: A test for linkage and association in general pedigrees: the pedigree disequilibrium test.
  9. (1999). RC: A test of transmission/ disequilibrium for quantitative traits in pedigree data, by multiple regression.
  10. (2005). Shete S: Effects of population structure on genetic association studies.
  11. (1995). Spielman RS: The transmission/disequilibrium test: history, subdivision, and admixture.
  12. (2004). The effects of human population structure on large genetic association studies. Nat Genet
  13. (1999). Thorsby E, Undlien DE: The predisposition to type 1 diabetes linked to the human leukocyte antigen complex includes at least one non-class II gene.
  14. (1997). Transmission-disequilibrium tests for quantitative traits.