Statistically efficient association analysis of quantitative traits with haplotypes and untyped SNPs in family studies

摘要

With the advances in high-throughput genotyping technologies and the availability of dense SNP maps across the human genome [1], haplotype-based association analysis plays an increasingly important role in mapping genes that influence complex human diseases. Haplotypes, which are specific combinations of alleles at several tightly linked SNPs on a chromosome, incorporate the linkage disequilibrium information and pertain to the functional properties of proteins through the amino acids sequences. Association analysis based on haplotypes tends to be more powerful than the analysis of individual SNPs, especially when the causal SNPs are not directly typed or when multiple mutations occur in the cis position [2–6].