University of Vermont

University Communications

Zakai Plays Lead Role in Nature Genetics Publication

Release Date: 10-15-2009

Author: Jennifer Nachbur
Phone: 802/656-7875 Fax: 802-656-3961

University of Vermont Assistant Professor of Medicine Neil Zakai, M.D., M.Sc., is co-first author of a new study in Nature Genetics that examined genetic variants of several traits of red blood cells — including size, shape and hemoglobin concentration — in order to better understand how problems with these traits can lead to such conditions as hypertension.

Red blood cells contain the protein hemoglobin and are responsible for transporting oxygen to and removing waste products from cells. According to the study's authors, red blood cell disorders, such as anemia and erythrocytosis — an over-production of red blood cells — are associated with such commonly-linked conditions as high blood pressure and other cardiovascular diseases. Apart from known disease states, such as sickle cell anemia and some hereditary red blood cell disorders, the genetic regulation of the size and shape of red cells and the amount of hemoglobin in red cells had not been previously studied.

The research team conducted a genome-wide association study in cohorts from the international CHARGE — Cohorts for Heart and Aging Research in Genomic Epidemiology — consortium to determine the genetic variants that explain differences in the size and shape of red cells, as well as the combination of hemoglobin. The meta-analysis involved data from 24,167 individuals of European ancestry.

"We found 23 regions within the genome that help regulate these traits, many of which had not been previously described," said Zakai. "By understanding how our genes regulate red cell traits, we will be able to better understand problems related to red cell size, shape, and hemoglobin concentration and perhaps evaluate how other diseases may relate to these traits."

Mary Cushman, M.D., UVM professor of medicine, was a co-author on the paper, which was published as a Nature Genetics "Advanced Online Publication" on October 11.