Epistasis in quantitative trait locus linkage analysis: interaction or main effect? 2004

Shaun Purcell, and Pak C Sham
Social, Genetic, and Developmental Psychiatry Research Centre, Institute of Psychiatry, P.O. 080, King's College London, Denmark Hill, London SE5 8AF, United Kingdom. s.purcell@iop.kcl.ac.uk

This paper explores a two-locus variance components model of quantitative trait locus (QTL) linkage for sib-pairs that incorporates epistasis. For a range of epistatic models the expected variance components and noncentrality parameter per sib-pair can be calculated, to indicate the power to detect epistasis. In QTL linkage analysis, additive and epistatic effects are in fact partially confounded; as a result, variance components under incorrect submodels can be distorted, with two main implications. First, the analysis of a single locus can in fact detect a QTL that has no main effect but interacts epistatically with another (unmeasured) locus. That is, single-locus approaches do not necessarily preclude the detection of purely epistatically interacting loci. Second, because the nonepistatic variance component estimates in submodels can partially absorb epistatic variance when it is not explicitly modeled, power to formally detect epistasis is low.

UI MeSH Term Description Entries
D008957 Models, Genetic Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment. Genetic Models,Genetic Model,Model, Genetic
D002874 Chromosome Mapping Any method used for determining the location of and relative distances between genes on a chromosome. Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D004843 Epistasis, Genetic A form of gene interaction whereby the expression of one gene interferes with or masks the expression of a different gene or genes. Genes whose expression interferes with or masks the effects of other genes are said to be epistatic to the effected genes. Genes whose expression is affected (blocked or masked) are hypostatic to the interfering genes. Deviation, Epistatic,Epistatic Deviation,Genes, Epistatic,Genes, Hypostatic,Epistases, Genetic,Gene-Gene Interaction, Epistatic,Gene-Gene Interactions, Epistatic,Genetic Epistases,Genetic Epistasis,Interaction Deviation,Non-Allelic Gene Interactions,Epistatic Gene,Epistatic Gene-Gene Interaction,Epistatic Gene-Gene Interactions,Epistatic Genes,Gene Gene Interaction, Epistatic,Gene Gene Interactions, Epistatic,Gene Interaction, Non-Allelic,Gene Interactions, Non-Allelic,Gene, Epistatic,Gene, Hypostatic,Hypostatic Gene,Hypostatic Genes,Interaction, Epistatic Gene-Gene,Interaction, Non-Allelic Gene,Interactions, Epistatic Gene-Gene,Interactions, Non-Allelic Gene,Non Allelic Gene Interactions,Non-Allelic Gene Interaction
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000483 Alleles Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. Allelomorphs,Allele,Allelomorph
D015233 Models, Statistical Statistical formulations or analyses which, when applied to data and found to fit the data, are then used to verify the assumptions and parameters used in the analysis. Examples of statistical models are the linear model, binomial model, polynomial model, two-parameter model, etc. Probabilistic Models,Statistical Models,Two-Parameter Models,Model, Statistical,Models, Binomial,Models, Polynomial,Statistical Model,Binomial Model,Binomial Models,Model, Binomial,Model, Polynomial,Model, Probabilistic,Model, Two-Parameter,Models, Probabilistic,Models, Two-Parameter,Polynomial Model,Polynomial Models,Probabilistic Model,Two Parameter Models,Two-Parameter Model
D040641 Quantitative Trait Loci Genetic loci associated with a quantitative trait. Quantitative Trait Loci Genes,Loci, Quantitative Trait,Locus, Quantitative Trait,Quantitative Trait Locus,Trait Loci, Quantitative,Trait Locus, Quantitative

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