Hunting for the "missing heritability" in human disease
Friday seminar by Dag Undlien (room 3315)
Genetic epidemiologic studies performed over many decades has repeatedly demonstrated that genetic variation is an important determining factor in explaining differences in susceptibility to the vast majority of human diseases. In monogenic (Mendelian) diseases the identification of causative genetic mutations has provided molecular explanations for much of the epidemiologic observations.
In genetically complex (multifactorial) diseases one also observes a high heritability, frequently in the range of +/- 50%. Despite large efforts in identifying the molecular genetic variation responsible for the observed familial clustering, only a small part of the observed heritability can presently be explained by identified susceptibility genes. This has led to the concept of "missing heritability". Our research focuses on identifying the molecular factors underlying this missing heritability and includes studies of rare genetic variants and epigenetic inheritance in disease as potential explanatory factors.
Dag Erik Undlien, Department of Medical Genetics, UiO