Two-stage global search designs for linkage analysis II: Including discordant relative pairs in the study

✍ Scribed by Xiuqing Guo; Robert C. Elston

• Publisher: John Wiley and Sons
• Year: 2000
• Tongue: English
• Weight: 98 KB
• Volume: 18
• Category: Article
• ISSN: 0741-0395
• DOI: 10.1002/(sici)1098-2272(200002)18:2<111::aid-gepi2>3.0.co;2-m

✦ Synopsis

The optimal two-stage designs proposed by Elston [1992Elston [ , 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.