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Overview of strategies for complex genetic diseases.

The etiology of many human diseases is complex and often involves a combination of genetic and environmental risk factors. Genetic risk factors can be common polymorphisms that are neither necessary nor sufficient to develop the disease. The aims of genetic analyses are to (1) identify the genetic factors and (2) model their role, and the interactions between them and with environmental factors. Different strategies have been developed that take advantage of the information provided by genetic markers in families of affected individuals. A genetic marker is a polymorphic locus, that is, it has multiple allelic forms segregating in a Mendelian manner. Thanks to molecular technology, the number of highly polymorphic genetic markers increases very rapidly and provides landmarks to the whole genome. A possible strategy to detect the presence of a risk factor in a region of the genome is to systematically search for linkage with random genetic markers.