Julian C. Knight
- Published in print:
- 2009
- Published Online:
- September 2009
- ISBN:
- 9780199227693
- eISBN:
- 9780191711015
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780199227693.003.0009
- Subject:
- Biology, Evolutionary Biology / Genetics, Disease Ecology / Epidemiology
The extent of single nucleotide polymorphism is reviewed, together with insights gained into the nature of allelic architecture in terms of haplotypes, linkage disequilibrium and recombination. The ...
More
The extent of single nucleotide polymorphism is reviewed, together with insights gained into the nature of allelic architecture in terms of haplotypes, linkage disequilibrium and recombination. The utility of SNPs in defining genetic determinants of common disease is discussed including the rationale, results and diverse applications of the International HapMap Project. The recent development and application of genome-wide association studies is reviewed including the Wellcome Trust Case Control Consortium study of seven common diseases. Issues relating to design, analysis and interpretation of such studies are described. A detailed review of age-related macular degeneration and inflammatory bowel disease is presented, two common multifactorial diseases where genome-wide association studies have recently enjoyed considerable success. Research in these diseases illustrates the timeline of different approaches used in defining genetic determinants of common disease and how such analyses can provide novel insights into disease pathogenesis.Less
The extent of single nucleotide polymorphism is reviewed, together with insights gained into the nature of allelic architecture in terms of haplotypes, linkage disequilibrium and recombination. The utility of SNPs in defining genetic determinants of common disease is discussed including the rationale, results and diverse applications of the International HapMap Project. The recent development and application of genome-wide association studies is reviewed including the Wellcome Trust Case Control Consortium study of seven common diseases. Issues relating to design, analysis and interpretation of such studies are described. A detailed review of age-related macular degeneration and inflammatory bowel disease is presented, two common multifactorial diseases where genome-wide association studies have recently enjoyed considerable success. Research in these diseases illustrates the timeline of different approaches used in defining genetic determinants of common disease and how such analyses can provide novel insights into disease pathogenesis.
Julian C. Knight
- Published in print:
- 2009
- Published Online:
- September 2009
- ISBN:
- 9780199227693
- eISBN:
- 9780191711015
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780199227693.003.0015
- Subject:
- Biology, Evolutionary Biology / Genetics, Disease Ecology / Epidemiology
This final chapter seeks to provide a brief overview of some of the important insights that have been established from work investigating human genetic diversity. The remarkable range of human ...
More
This final chapter seeks to provide a brief overview of some of the important insights that have been established from work investigating human genetic diversity. The remarkable range of human genetic variation is discussed together with advances in understanding the genetic basis of disease and the functional consequences of genetic diversity at a molecular level. Longer term application to individualised medical care including pharmacogenomics is reviewed.Less
This final chapter seeks to provide a brief overview of some of the important insights that have been established from work investigating human genetic diversity. The remarkable range of human genetic variation is discussed together with advances in understanding the genetic basis of disease and the functional consequences of genetic diversity at a molecular level. Longer term application to individualised medical care including pharmacogenomics is reviewed.
