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Haplotype mapping in human disease

^1. Clinical Chemistry, Nottingham University Hospitals NHS Trust, QMC Campus, Derby Road, Nottingham NG7 2UH, UK Email: linda.morgan{at}nottingham.ac.uk (corresponding author)

Key content:

• Many obstetric and gynaecological disorders result from complex interactions between genetic and environmental factors.
  
• Mapping of the patterns of variation in the human genome by the International HapMap project has made it possible to screen for common genetic variants in the human genome rapidly and economically.
  
• Susceptibility genes for complex disorders typically have small effects.
  
• Many thousands of samples from well-phenotyped cases are required to detect susceptibility genes with confidence.
  
• National and international consortia provide a necessary research infrastructure for genetic studies of complex disorders.
  

Learning objectives:

• To understand the principles and applications of linkage disequilibrium, haplotype tagging and genome-wide association screening.
  
• To be able to access the bioinformatic resources available to researchers studying the genetic basis of complex disorders.
  

Ethical issues:

• Research investment in haplotype mapping is leading to the identification of susceptibility genes for complex disorders, largely related to populations of white, western European descent. It is important to ensure that these benefits extend to all populations, including those in developing countries.
  

Please cite this article as: Morgan L. Haplotype mapping in human disease. The Obstetrician & Gynaecologist 2009;11:277–283.

Keywords genome-wide association screening / International HapMap project / linkage disequilibrium / tagSNPs