Aims
POLYGENE has two major aims:
Under the first aim of POLYGENE, genome-wide SNP association analysis will be performed on 2300 prostate and 2600 breast cancer patients from Iceland and the Netherlands and compared to the genotypes of 5700 controls. By using a large group of controls, we increase our power for detecting disease variants with a modest effect. The collection of extensive clinical information allows the definition of different clinical phenotypes which is of crucial importance in genetic studies of complex diseases like breast and prostate cancer.
Statistical analysis of genetic associations in a marker by marker fashion is often inefficient. The second aim of POLYGENE is to further develop existing methods that simultaneously use information from several markers (multipoint methods). Furthermore, methods that search for interactions between sets of unlinked markers which individually have only small effects will be developed.
The long term goal of POLYGENE is to identify common genetic variants that have moderate but significant influence on the risk of developing breast or prostate cancer. The statistical and computational methods developed will also be useful in genetic studies of other complex human diseases.
Problem
Most of genetic breast and prostate cancer risk may be due to multiple risk alleles, where the risk associated with each individual allele is small to moderate.
Genetic association studies in well-defined populations are needed in order to identify low-penetrance cancer genes.
The huge amount of data generated by genome-wide association studies present a major statistical challenge with pressing need for improvements in analysis methods that can sort spurious associations from real ones and probe possible interactions between genetic variants.