September 29, 2010 ─ (BRONX, NY) ─ A seemingly simple inherited trait – height – springs from hundreds of genetic causes, according to an international team of scientists. Robert Kaplan, Ph.D., professor of epidemiology & population health at Albert Einstein College of Medicine of Yeshiva University, is co-author of a paper on the group's findings published in the September 29 online edition of Nature.
The study identified hundreds of gene variants in at least 180 locations that influence adult height. These results prove that with internet technology it is now possible to do this type of large study. In time, such studies could lead to medical advances, better disease treatments, and new therapies.
For researchers, a frequent challenge has been that many different genetic locations influence an observable trait, like height. As a result, there have been doubts about the usefulness of genome-wide association studies to explain observed differences in people.
In their study, the team of scientists examined the height of nearly 184,000 people around the world. Dr. Kaplan supplied the data for one of roughly 50 groups involved. The scientists also identified common gene variants that influence height. These variants involve cases where a single base, such as cytosine or C, is swapped for another, such as guanine or G, in a strand of DNA.
The researchers picked height to study because it is easily measured and highly heritable. Thanks to modern technology, more than 200 global institutions involved were able to combine their data and extract meaningful results, thereby proving the merits of the genome-wide association approach.
"One of the things we were trying to do here was to use height as a test case, as a proof of concept. We did show that these large studies do produce useful information," said Dr. Kaplan.
The paper, "Hundreds of Variants Clustered in Genomic Loci and Biological Pathways Affect Human Height", appears in the September 29 online edition of Nature.
Journal
Nature