[The Haplotype Map of the human genome: a revolution in the genetics of complex diseases].
More than 99.9 % of the sequence is identical when comparing the DNA from two individuals. The remaining 0.1 % is responsible, along with other factors such as the environment, for the risk level of developing complex diseases (such as asthma, diabetes or cancer) or for the different pharmacological response to drugs. Despite the incredible advances in genomics in the past few years, identifying the variants involved remains difficult because of the prodigious amount of information to process. The recent completion of the Haplotype Map of the human genome has raised great hopes in the field as it is expected to help reduce the complexity of association studies and thus accelerate the discovery of genes associated with complex diseases. This review details the rationale behind the HapMap project, gives a summary of the results and also describes potential applications of the Haplotype Map.
Montpetit
Alexandre
A
Centre d'Innovation de Génome Québec et de l'Université McGill, 740 avenue Dr Penfield, Montréal, Québec, H3A 1A4 Canada. alexandre.montpetit@mail.mcgill.ca
Chagnon
Fanny
F
D001249:Asthma / Q000235:genetics; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D003920:Diabetes Mellitus / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D015894:Genome, Human; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D009369:Neoplasms / Q000235:genetics