Surprises found in gene variation associated with sch...( Approximately 2 percent of Caucasians h...)

Approximately 2 percent of Caucasians have a gene segment variation that can cause a certain form of schizophrenia. Most people with the variation, known as a polymorphism, do not have the disease. A University of Iowa Health Care study reveals a good prognosis for people who do have this form of schizophrenia. The team also found that this polymorphism is associated with overall benefits for human survival, and the initial mutation occurred in a single common ancestor about 100,000 years ago.

The findings have implications for finding better ways to treat this particular type of schizophrenia and possibly augmenting the positive influences of the polymorphism on human survival. The findings also point the way for studying other gene defects. The UI Research Foundation and the National Institutes of Health (NIH) share a patent for this X-chromosome gene polymorphism, known as HOPA12pb. The study results appeared in the February 11 online issue of the American Journal of Medical Genetics.

"While this polymorphism makes us more vulnerable to a certain illness, in this case schizophrenia, overall it is evolutionarily beneficial," said Robert Philibert, M.D., Ph.D., UI associate professor of psychiatry in the Roy J. and Lucille A. Carver College of Medicine and the study's principal investigator.

"Traditionally, genes that are selected for human evolution affect two things -- resistance to infection and infant survival. This gene may be involved in both of these positive features," Philibert added.

While nearly one in 50 people of European extraction has the HOPA polymorphism, only a small minority of people with the variant gene sequence actually have schizophrenia. About one in 30 men with the particular polymorphism has the condition. Men are more likely than women to have this form of schizophrenia because the gene is X-chromosome linked.

People with HOPA-link
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Contact: Becky Soglin
becky-soglin@uiowa.edu
319-335-6660
University of Iowa
12-Apr-2004

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