American Journal of Epidemiology Vol. 150, No. 1: 97-104
Copyright © 1999 by The Johns Hopkins University School of Hygiene and Public Health
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Transmission Disequilibrium Test (TDT) when Only One Parent Is Available The 1-TDT
1Department of Genetics, Emory University Atlanta, GA
2Department of Epidemiology, Emory University Atlanta, GA
3Birth Defects and Genetic Diseases Branch, Centers for Disease Control and Prevention (CDC) Atlanta, GA
4Office of Genetics and Disease Prevention, CDC Atlanta, GA
The transmission disequilibrium test (TDT) is a useful method to locate mutations linked to disease genes associated with complex diseases. TDT requires genotypes of affected individuals and their parents. Recently, Ewens and Spielman (Am J Hum Genet 1998;62;450–8) extended the TDT for use in sibships with at least one affected and one unaffected individual and devised a new test called the sib transmission /disequilibrium test (S-TDT). The S-TDT can be applied to diseases with late age at onset such as non-insulin-dependent diabetes mellitus, psychiatric disorders, and diseases related to aging. For some disorders, it might be relatively easy to obtain the genotype of one parent either because the other parent is not available for study or he/she is not cooperative. Curtis and Sham (Ann Hum Genet 1995;59:323–36) showed that bias in transmitting certain alleles is introduced if only heterozygous parents and homozygous offspring are used in the TDT. In this paper, the authors propose a new test, the 1-TDT, to detect linkage between a candidate locus and a disease locus using genotypes of affected individuals and only one available parent for each affected individual. The test is not biased under the null hypothesis of no linkage or association. The authors validate their test using both simulated and real data sets. Finally, they show how to combine data from different types of families. Am J Epidemiol 1999;150:97–104.
case-parental design; population stratification; TDT
Reprint requests to Dr. Fengzhu Sun, Department of Genetics, Emory University School of Medicine, 1462 Clifton Road, 4th Floor, Atlanta, GA 30322.
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