title: Power of concordant versus discordant sib pairs at different penetrance levels.
abstract: Knowing the answers, we used the GAW11 data set to compare the power and efficiency of discordant versus concordant affected sib pairs for qualitative traits at different levels of penetrance. Samples of 200 concordant sib pairs outperformed discordant sib pairs for low penetrance (40%) and 70% penetrance models while at 90% penetrance they performed equally well. Increasing the sample size of discordant sib pairs to twice that of concordant pairs was not enough to reach the power of concordant sib pairs at the 40% and 70% penetrance models. For low penetrance using a combination of concordant and discordant sib pairs resulted in higher power than using discordant sib pairs alone. At 90% penetrance, the power of concordant and discordant sib pairs was similar in the region close to the gene while concordant sib pairs performed better at locations further from the gene.
authors.affiliation: Department of Medicine, Boston University, Massachusetts, USA.
authors.forename: M
authors.initials: M
authors.lastname: Nicolaou
authors.forename: S
authors.initials: S
authors.lastname: Premkumar
authors.forename: A L
authors.initials: AL
authors.lastname: DeStefano
authors.forename: L A
authors.initials: LA
authors.lastname: Farrer
authors.forename: L A
authors.initials: LA
authors.lastname: Cupples
mesh_terms: D008040:Genetic Linkage; D005819:Genetic Markers; D005820:Genetic Testing; D006801:Humans; D008126:Lod Score; D008957:Models, Genetic; D009679:Nuclear Family; D019683:Penetrance; D019655:Quantitative Trait, Heritable; D012008:Recurrence; D012307:Risk Factors
chemical_list: D005819:Genetic Markers