Population selection in complex disease gene mapping
Part 1. Genetics
1.5. Complex Traits and Diseases
Published Online: 15 OCT 2004
Copyright © 2005 John Wiley & Sons, Ltd
Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics
How to Cite
Varilo, T. and Peltonen, L. 2004. Population selection in complex disease gene mapping. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 1:1.5:60.
- Published Online: 15 OCT 2004
The critical importance of the detailed information of the history and genealogical makeup of any study population should be strongly emphasized in this era of complex disease gene mapping since, to large extent, these features determine the most successful strategy for gene mapping efforts. Population isolates have offered shortcuts in the identification of monogenic disease genes, but serious doubts have been presented about their benefits in the gene hunt for polygenic traits. Methods for massive SNP genotyping and characterization of haploblock structure of the human genome introduce new prospects to LD-based fine mapping and haplotype association studies in multifactorial diseases. The wide LD intervals and the restricted number of disease alleles are characteristic for young isolated populations and provide definitive advantages for the initial locus positioning. Further, most of the suggestive gene identifications for complex diseases have emerged from large pedigrees and have typically utilized the combined power of linkage and association. Thus, the well-established geneology of a population facilitating construction of large pedigrees is another strong merit of many global isolates.
- population isolates;
- complex disease mapping;
- linkage disequilibrium;
- Finnish population