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Population selection in complex disease gene mapping

Part 1. Genetics

1.5. Complex Traits and Diseases

Specialist Review

  1. Teppo Varilo1,2,
  2. Leena Peltonen1,2

Published Online: 15 OCT 2004

DOI: 10.1002/047001153X.g105209

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

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.

Author Information

  1. 1

    National Public Health Institute and University of Helsinki, Biomedicum Helsinki, Helsinki, Finland

  2. 2

    The Broad Institute at MIT and Harvard, Boston, MA, USA

Publication History

  1. Published Online: 15 OCT 2004

Abstract

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.

Keywords:

  • population isolates;
  • complex disease mapping;
  • linkage disequilibrium;
  • Finnish population