Statistical analysis for haplotype-based matched case-control studies

Biometrics. 2006 Dec;62(4):1124-31. doi: 10.1111/j.1541-0420.2006.00568.x.

Abstract

Using unphased genotype data, we studied statistical inference for association between a disease and a haplotype in matched case-control studies. Statistical inference for haplotype data is complicated due to ambiguity of genotype phases. An estimating equation-based method is developed for estimating odds ratios and testing disease-haplotype association. The method potentially can also be applied to testing haplotype-environment interaction. Simulation studies show that the proposed method has good performance. The performance of the method in the presence of departures from Hardy-Weinberg equilibrium is also studied.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Biometry / methods*
  • Case-Control Studies*
  • Chromosomes, Human, Pair 22 / genetics
  • Gene Frequency
  • Genomics / statistics & numerical data
  • Haplotypes*
  • Humans
  • Logistic Models
  • Models, Genetic
  • Polymorphism, Single Nucleotide
  • Sarcoidosis / genetics