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The transmission disequilibrium test and imprinting effects test based on case-parent pairs

✍ Scribed by Yue-Qing Hu; Ji-Yuan Zhou; Fengzhu Sun; Wing K. Fung

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
216 KB
Volume
31
Category
Article
ISSN
0741-0395

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✦ Synopsis

Abstract

The transmission disequilibrium test (TDT) based on case‐parents trios is a powerful tool in linkage analysis and association studies. When only one parent is available, the 1‐TDT is applicable in the absence of imprinting. In the presence of imprinting, a statistic is proposed, based on case‐mother pairs and case‐father pairs to test for linkage when association is present as well as to test for association when linkage is present. The recombination fractions are allowed to be sex‐specific in this test statistic. Meanwhile, a statistic based on case‐parent pairs is proposed to test for imprinting. Both test statistics can be extended to include families with more than one affected offspring. A number of simulation studies are conducted to investigate the validity of the proposed tests. The effects of different ratios of the numbers of case‐mother pairs and case‐father pairs on the powers of the proposed tests are studied through simulation. The results show that the optimal ratio is 1:1. How to combine case‐parents, case‐mother pairs, and case‐father pairs jointly in testing for linkage, association, and imprinting is addressed. Genet. Epidemiol. 2007. © 2007 Wiley‐Liss, Inc.

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