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U-M sibling study discovers genetic region linked to control of key blood-clotting protein
Date:1/8/2013

moking, were minimized, giving the scientists a better chance of uncovering genetic causes.

The researchers report that the first part of their analysis, called a genome-wide association study, confirmed the two major genes already known to explain a small part of the differences in von Willebrand factor.

The researchers also looked at which parts of the genome were shared between siblings and how this related to von Willebrand factor levels. They identified a section of chromosome 2 that contains a gene that significantly regulates von Willebrand factor but had not previously been detected in studies of unrelated individuals.

The next step will be to determine the identity of the exact gene on chromosome 2, how it differs among people, and how these differences alter the level of von Willebrand factor and the associated risk for bleeding and blood clotting. Understanding how this gene affects von Willebrand factor may lead to improved diagnosis for bleeding and blood-clotting disorders, as well as new approaches to treatment.

The researchers plan to apply a similar analysis to other traits in blood clotting, says Dr. Karl Desch, assistant professor in the pediatrics department at the U-M Medical School and first author of the study.

"Using the sibling structure in this study, we will hopefully discover more novel loci that determine the variation in these other traits," he said.


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Contact: Jim Erickson
ericksn@umich.edu
734-647-1842
University of Michigan
Source:Eurekalert

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