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Two‐stage global search designs for linkage analysis II: Including discordant relative pairs in the study
Author(s) -
Guo Xiuqing,
Elston Robert C.
Publication year - 2000
Publication title -
genetic epidemiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.301
H-Index - 98
eISSN - 1098-2272
pISSN - 0741-0395
DOI - 10.1002/(sici)1098-2272(200002)18:2<111::aid-gepi2>3.0.co;2-m
Subject(s) - linkage (software) , biology , mathematics , genetics , statistics , gene
The optimal two‐stage designs proposed by Elston [1992, 1994] for a global search of the genome to locate disease genes by linkage analysis typically halve the cost of a study compared to one‐stage designs [Elston et al., 1996]. These designs were based on sampling affected pairs of relatives. Usually, using affected relative pairs is more powerful than using discordant relative pairs [Blackwelder and Elston, 1985; Risch 1990b]. However, in certain situations discordant relative pairs can be as powerful as, or even more powerful than, affected relative pairs. In addition, combining discordant pairs with affected pairs provides a control study. In this paper, we investigate optimal two‐stage designs when: 1) using only discordant relative pairs, and 2) combining discordant with affected relative pairs. We show that including discordant relatives pairs into the study not only provides a control, but is also cost effective. Genet. Epidemiol. 18:111–127, 2000. © 2000 Wiley‐Liss, Inc.