# name
Genetic and functional characterization of disease associations
                explains comorbidity

# metadata.dc.description.abstract[].value
Understanding relationships between diseases, such as
                comorbidities, has important socio-economic implications,
                ranging from clinical study design to health care planning. Most
                studies characterize disease comorbidity using shared genetic
                origins, ignoring pathway-based commonalities between diseases.
                In this study, we define the disease pathways using an
                interactome-based extension of known disease-genes and introduce
                several measures of functional overlap. The analysis reveals 206
                significant links among 94 diseases, giving rise to a highly
                clustered disease association network. We observe that around
                95% of the links in the disease network, though not identified
                by genetic overlap, are discovered by functional overlap. This
                disease network portraits rheumatoid arthritis, asthma,
                atherosclerosis, pulmonary diseases and Crohn's disease as hubs
                and thus pointing to common inflammatory processes underlying
                disease pathophysiology. We identify several described
                associations such as the inverse comorbidity relationship
                between Alzheimer's disease and neoplasms. Furthermore, we
                investigate the disruptions in protein interactions by mapping
                mutations onto the domains involved in the interaction,
                suggesting hypotheses on the causal link between diseases.
                Finally, we provide several proof-of-principle examples in which
                we model the effect of the mutation and the change of the
                association strength, which could explain the observed
                comorbidity between diseases caused by the same genetic
                alterations.

# metadata.dc.source[].value
Articles publicats en revistes (ISGlobal)

# metadata.dc.title[].value
Genetic and functional characterization of disease associations
                explains comorbidity