Mapping Complex Diseases

Researchers use computers to find the genetic origins of many common diseases.

ByABC News
July 9, 2007, 2:24 PM

July 9, 2007 — -- Researchers at Columbia University have mapped the overlap between 161 different diseases by studying epidemiological data from 1.5 million patients. Among their findings is a strong overlap between schizophrenia, bipolar disorder, and autism, suggesting that these three diseases may be caused by a shared group of genes. The researchers hope others will use their map to further investigate the genetic bases of the diseases they studied--genetics that in most cases are poorly understood.

Certain diseases caused by single genetic mutations are correlated with other conditions in well-known ways, says Andrey Rzhetsky, the leader of the mapping project, who is now a professor of genetic medicine at the University of Chicago. For example, the same mutation in the gene for hemoglobin, the protein that carries oxygen in the blood, causes sickle-cell anemia but protects against malaria. Unlike sickle-cell anemia, however, most diseases aren't caused by a single mutation. The genetic factors underlying most common diseases, such as diabetes, addiction, and heart disease, are complex and poorly understood. But Rzhetsky found connections between genetically complex diseases, too.

Using health records from the Columbia University Medical Center, Rzhetsky's group examined the likelihood that a patient with one genetically complex disease--for example, diabetes--also had one of the 160 other diseases under study, such as an autoimmune disorder. The researchers concluded that certain groups of genes can predispose a person to multiple diseases, while others can predispose a person to one disease while protecting against another.

Rzhetsky's group did not look at gene expression or DNA sequence data in any of the patients, so the study provides no specific evidence that diseases with a tendency to occur together share common genetic risk factors. (A person with a psychiatric illness might develop diabetes because of poor eating habits, not because the same genes cause both diseases.) But in general, says Rzhetsky, the researchers can infer that the disease correlations are caused by shared genes rather than environmental effects, because their sample size was so large and the correlations were so strong.