title: Complete genomic screen for disease susceptibility loci in nuclear families.
abstract: We performed genome-wide model dependent and independent analyses on a simulated data set of 400 families segregating for a rare disorder. Regions on chromosomes 1, 3, and 5 were consistently indicated across the various analyses performed. Follow-up analyses included stratification for locus heterogeneity and clinical phenotype and studies of gene x gene and gene x environment interaction. The region around D1G024 was most notable, showing strong association and linkage with the trait. We also identified regions D3G043-46 and D5G037-39 by strong linkage and association findings and region D1G001-09 by linkage analysis. A complex statistical interaction was suggested between D1G024, D3G046 and environmental factor 1. This report suggests that traditional methods of analysis can be implemented to analyze and describe the mechanisms that may underlie the more complex genetic disorders.
authors.affiliation: Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27707, USA.
authors.forename: J L
authors.initials: JL
authors.lastname: Anderson
authors.forename: E R
authors.initials: ER
authors.lastname: Hauser
authors.forename: E R
authors.initials: ER
authors.lastname: Martin
authors.forename: W K
authors.initials: WK
authors.lastname: Scott
authors.forename: A
authors.initials: A
authors.lastname: Ashley-Koch
authors.forename: K J
authors.initials: KJ
authors.lastname: Kim
authors.forename: S A
authors.initials: SA
authors.lastname: Monks
authors.forename: C S
authors.initials: CS
authors.lastname: Haynes
authors.forename: M C
authors.initials: MC
authors.lastname: Speer
authors.forename: M A
authors.initials: MA
authors.lastname: Pericak-Vance
mesh_terms: D002874:Chromosome Mapping; D004777:Environment; D004843:Epistasis, Genetic; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D014644:Genetic Variation; D016678:Genome; D006801:Humans; D015810:Linkage Disequilibrium; D008126:Lod Score; D008957:Models, Genetic; D009679:Nuclear Family