Power of association and linkage tests when the disease alleles are unobserved

Article Abstract:

Genomewide association studies have been compared and contrasted to linkage tests for those situations in which detection of small-effect genes is to be done in complex diseases. Sample sizes needed for the two strategies when markers exclude the disease-related polymorphism are compared. Advantages exist for association studies assuming the set of markers includes the exact disease-related polymorphism. However, the power of an association study is lower in other situations, those in which discrepant allele frequencies exist and disequilibrium between the disease-related polymorphism and the nearest marker is not maximal. Linkage analysis is more powerful in some situations. Guidelines are given.

Standards, Genetic research, Medical statistics, Linkage (Genetics)

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Mapping genes that underlie ethnic differences in disease risk: methods for detecting linkage in admixed populations, by conditioning on parental admixture

Article Abstract:

Genes underlying ethnic differences in disease risk can be mapped in ethnically mixed affected people if the ancestry of the alleles at each marker locus can be assigned to one of two founding populations. Based on simulations using a hidden Markov model, it appears that if groups combined 2-10 generations before, a multipoint analysis using 2,000 biallelic markers with f values of 30% can bring out 70%-90% of the ancestry information for each locus where f is the information content for ancestry of the markers. It is defined as a function of allele frequencies in the two founding populations.

Health aspects, Measurement, Ethnic groups, Racially mixed people, Disease susceptibility

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Methods for detection of parent-of-origin effects in genetic studies of case-parents triads

Article Abstract:

Detection methods for parent-of-origin effects in genetic studies involving case-parents triads have been evaluated. Each method can be invalid, depending on the circumstances. Based on application of likelihood-based inference after stratification on the parental mating type and the inherited number of copies of the allele under consideration, two new methods have been proposed.

Statistics, Genetic screening, Genetic testing, Probabilities, Probability theory

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