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Human Genetic DiversityFunctional Consequences for Health and Disease$
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Julian C. Knight

Print publication date: 2009

Print ISBN-13: 9780199227693

Published to Oxford Scholarship Online: September 2009

DOI: 10.1093/acprof:oso/9780199227693.001.0001

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SNPs, HapMap, and common disease

SNPs, HapMap, and common disease

(p.211) Chapter 9 SNPs, HapMap, and common disease
Human Genetic Diversity

Julian C. Knight

Oxford University Press

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.

Keywords:   single nucleotide polymorphism, SNP, haplotype, recombination, genetics of common disease, genome-wide association, HapMap Project, age-related macular degeneration, inflammatory bowel disease, Crohn's disease

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