Shaking the tree: mapping complex disease genes with linkage disequilibrium
1Western Australian Institute for Medical Research and University of Western Australia Centre for Medical Research, University of Western Australia. lyle.palmer@cyllene.uwa.edu.au
Lancet (London, England)
|October 4, 2005
Summary
International efforts focus on identifying genetic polymorphisms for complex diseases. Advances in single nucleotide polymorphism (SNP) genotyping and linkage disequilibrium mapping accelerate gene discovery for complex traits.
Area of Science:
- Human Genetics
- Genomics
- Epidemiology
Background:
- Significant global resources are invested in identifying genetic factors influencing complex human diseases.
- Technological advancements have led to comprehensive catalogs of single nucleotide polymorphisms (SNPs) across the human genome.
- There is a growing understanding of the necessity for large sample sizes in genetic studies.
Purpose of the Study:
- To review the current understanding of human genome structure concerning SNPs and linkage disequilibrium.
- To discuss the application of this knowledge in mapping genes associated with complex diseases.
- To consider the challenges of whole-genome association scanning using SNPs.
Main Methods:
- Review of existing literature on human genome structure, SNPs, and linkage disequilibrium.
- Analysis of the application of genomic data in complex disease gene mapping.
- Discussion of methodologies and challenges in whole-genome association studies.
Main Results:
- Extensive SNP catalogs and linkage disequilibrium maps are available.
- Genomic advances facilitate the identification of susceptibility genes for complex traits.
- Large sample sizes are crucial for detecting genetic effects in complex diseases.
Conclusions:
- The integration of SNP and linkage disequilibrium data holds significant promise for identifying complex disease susceptibility genes.
- Whole-genome association scanning using SNPs presents both opportunities and challenges.
- Continued research in human genomics and epidemiology is vital for advancing our understanding of complex diseases.
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