[PDF][PDF] Linkage disequilibrium mapping via cladistic analysis of single-nucleotide polymorphism haplotypes

C Durrant, KT Zondervan, LR Cardon, S Hunt… - The American Journal of …, 2004 - cell.com
The American Journal of Human Genetics, 2004cell.com
We present a novel approach to disease-gene mapping via cladistic analysis of single-
nucleotide polymorphism (SNP) haplotypes obtained from large-scale, population-based
association studies, applicable to whole-genome screens, candidate-gene studies, or fine-
scale mapping. Clades of haplotypes are tested for association with disease, exploiting the
expected similarity of chromosomes with recent shared ancestry in the region flanking the
disease gene. The method is developed in a logistic-regression framework and can easily …
We present a novel approach to disease-gene mapping via cladistic analysis of single-nucleotide polymorphism (SNP) haplotypes obtained from large-scale, population-based association studies, applicable to whole-genome screens, candidate-gene studies, or fine-scale mapping. Clades of haplotypes are tested for association with disease, exploiting the expected similarity of chromosomes with recent shared ancestry in the region flanking the disease gene. The method is developed in a logistic-regression framework and can easily incorporate covariates such as environmental risk factors or additional unlinked loci to allow for population structure. To evaluate the power of this approach to detect disease-marker association, we have developed a simulation algorithm to generate high-density SNP data with short-range linkage disequilibrium based on empirical patterns of haplotype diversity. The results of the simulation study highlight substantial gains in power over single-locus tests for a wide range of disease models, despite overcorrection for multiple testing.
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