The methodologies of epidemiology and molecular genetics are complementary approaches to identifying risk factors in bipolar disorder. Genetic linkage studies have revealed several chromosomal loci likely to contain genes that increase the risk of bipolar disorder, but major uncertainties remain about the mode of inheritance of the condition and the definition of the phenotype. Epidemiological findings have contributed to both these areas and have led to new hypotheses about causation. For example, the analysis of variability of age at onset of bipolar disorder led to studies of anticipation and a possible role of dynamic DNA repeat sequence mutations. Future epidemiological studies that aim to identify risk factors for bipolar disorder at the population level will be able to measure the interactions of genome sequence variation with other risk factors in the domain of demography, childhood experiences, exposure to adversity and availability of social support.