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

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

Authors :
Yue-Qing Hu
Fengzhu Sun
Wing K. Fung
Ji-Yuan Zhou
Source :
Genetic Epidemiology. 31:273-287
Publication Year :
2007
Publisher :
Wiley, 2007.

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 casefather 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. 31:273–287, 2007. r 2007 Wiley-Liss, Inc.

Details

ISSN :
10982272 and 07410395
Volume :
31
Database :
OpenAIRE
Journal :
Genetic Epidemiology
Accession number :
edsair.doi.dedup.....b938e6d12f330ddc01455d23a7afb51e
Full Text :
https://doi.org/10.1002/gepi.20208