Most human diseases are results from a complex mixture of
inherited and environmental factors; the etiology underlying
these diseases presents a new set of challenges to scientists in
human genetics. In the past two decades, a huge amount of resources
have been devoted to human disease gene mapping. Numerous positive
results have provided excitement in the field; however, most of
them fail to be confirmed in subsequent replications.
Recently, genome-wide association studies (GWAS) using large
sample sizes have become feasible and affordable. By using highly
dense marker sets and information from the HAPMAP project, the
knowledge of human genome structure, population genetics and
disease-associated variants have been vastly increased. In the
past two years, there have been many studies adopted GWAS design,
however, despite highly significant p-value, the related odds
ratios for susceptible alleles were modest. To cope with GWAS, new
statistical methods have also been developed to help revealing
possible etiology of complex traits. On the other hand, new typing
technology emerged continuously.
In this talk, the following issues will be discussed. 1) Rational
of GWAS; 2) coverage and efficacy of commercial whole genome make
sets 3) some recent GWAS and their findings; 4) the follow up of
GWAS.