Polymorphic variation in the human genome and susceptibility to disease
by
Deutsch, S.
Centre Médical Universitaire, Genève
Description:
One of the main features revealed by the completion of the human
genome is the large amount of polymorphic sequence variation present in
human populations, such that on average any two chromosomes differ
every 600 - 800 base pairs. The majority of these sequence variants are
Single Nucleotide Polymorphisms (SNPs), although other types of
polymorphisms exist. So far around 5 million SNPs have been validated,
and an international consortium has been set-up to characterize the
main features of human variation in different populations.
Although most of the sequence variation in the human genome is thought
to be neutral, a fraction of it is known to have functional
consequences, for instance, modifying the activity/function of a
protein or affecting the spatio-temporal regulation of a gene. As such,
functional sequence variants underlie a substantial proportion of
phenotypic variability including quantitative traits, susceptibility to
common disorders (for example Diabetes, Asthma), and differential
response to drugs. One of the main challenges of modern genomics is to
identify specific SNPs associated to phenotypic states (discrete or
continuous). Over the last two years there have been remarkable
advances in genotyping technology and conceptual frame-works that make
it possible for the first time to perform truly genome-wide studies.
However substantial challenges remain concerning how best to extract
the information in view of problems such as multiple hypothesis testing
and non-additive gene-gene and gene-environment interactions. Finding
the genes in the genome and associating them with a particular disease.
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