Approved Research

Clarification of causes of multifactorial diseases by phenotypic clustering using UK Biobank data

Lay summary

The causes of allergic diseases, cardiovascular disease risk factors, depression, and cancer are not sufficiently clear in terms of both genetic and environmental factors. One of the reasons for this may be that these diseases are syndromes composed of multiple diseases rather than a single disease. The purpose of this study is to divide these syndrome-like diseases into more similar subgroups by analyzing the phenotypes of these diseases in terms of symptoms and severity.

We have already succeeded in dividing patients with autism spectrum disorders with potentially similar genetic factors by applying artificial intelligence analysis technology. Based on the progress of this study, we aim to divide allergic diseases, cardiovascular disease risk factors, depression (including major depressive disorder, bipolar disorder, and anxiety disorder), and cancer into subgroups to make these syndromes into more similar disease concepts during a rolling 3-year period of our project. These findings will help to elucidate the causes of diseases from which many people suffer and for which many causes have been postulated.

On the basis of the present study, individual risks can be estimated using the genetic factors identified in the subgroups, while taking into account environmental factors. Knowing these risks will help to devise optimal treatment interventions.