Genetic association mapping under founder heterogeneity via weighted haplotype similarity analysis in candidate genes

Genet Epidemiol. 2004 Nov;27(3):182-91. doi: 10.1002/gepi.20022.

Abstract

Taking advantage of increasingly available high-density single nucleotide polymorphism (SNP) markers within genes and across genomes, more and more genetic association studies began to use multiple closely linked markers in candidate genes. A practical analytical challenge arising in such studies is the possibility that not all case chromosomes have inherited disease-causing mutations from a common ancestral chromosome (founder heterogeneity). To alleviate the problem, we propose a method that applies a clustering algorithm to haplotype similarity analysis. The method identifies a sequence of nested subsets of case chromosomes by a peeling procedure, where each subset is relatively homogeneous. The average similarity score estimated from each subset in the sequence is compared to that estimated in controls, and a raw (unadjusted for multiple comparisons) P value is obtained. The test for the association between the trait and the candidate gene is based on the minimum raw P value observed in the comparison sequence, with its significance level estimated by a permutation procedure. The method can be applied to both haplotype and genotype data. Simulation studies suggest that our method has the correct type I error rate, and is generally more powerful than existing methods of haplotype similarity analysis.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Case-Control Studies
  • Chromosome Mapping / methods*
  • Founder Effect
  • Genetic Heterogeneity*
  • Genotype
  • Haplotypes / genetics*
  • Humans
  • Linkage Disequilibrium / genetics*
  • Models, Genetic*
  • Models, Statistical