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

ANN ARBORIn 2006, the lab of Dr. David Ginsburg at the Life Sciences Institute put a call out for siblings attending the University of Michigan to donate blood for a study of blood-clotting disorders.

The samples were collected over three years and have now enabled the researchers to identify the specific parts of the genome responsible for levels of a key substance for blood clotting. The findings were reported online Dec. 24 in the Proceedings of the National Academy of Sciences.

Von Willebrand disease is the most common hereditary blood-clotting disorderit's more common, but usually milder, than hemophilia. The disease is caused by lower-than-normal levels of von Willebrand factor, a substance that circulates in blood and serves as the "glue" to help blood platelets stick where they're needed to stop bleeding.

While a low level of von Willebrand factor may cause uncontrolled bleeding, high levels can contribute to blood clots, heart attacks and strokes. Age and environmental factors can lead to increased von Willebrand factor, and understanding how the body regulates the substance can help researchers develop treatments for diseases caused by excessive clotting.

Previous studies pinpointed two major genes that partially regulated levels of von Willebrand factor in the blood. However, these two genes only explained a small part of the inherited differences in von Willebrand factor levels between people. Studying siblings in college provided some clues to those differences.

A team of researchers led by Ginsburg, who is a faculty member at the Life Sciences Institute, a professor of internal medicine, human genetics and pediatrics at the U-M Medical School and a Howard Hughes Medical Institute investigator, performed a genetic analysis in two young and healthy cohorts. Because the blood donors were in their early 20s, the effect of other factors known to cause an excess of von Willebrand factor, like age and smoking, 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.


'/>"/>

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

Related medicine news :

1. Not Fair! How Sibling Fights May Lead to Later Mood Problems
2. Sibling squabbles can lead to depression, anxiety
3. Developmental Woes Common in Siblings of Children With Autism
4. Study of half siblings provides genetic clues to autism
5. Brief class on easy-to-miss precancerous polyps ups detection, Mayo study shows
6. Study finds flame retardant pollutants at far-flung locations
7. Recession Drove Down Doctor Visits, Study Says
8. Black and Hispanic patients less likely to complete substance abuse treatment, Penn study shows
9. People with diabetes in Ontario getting fewer government-funded eye exams, new study finds
10. Menopause Can Bring Lapses in Memory, Thinking, Study Finds
11. Meds May Spur Compulsive Behaviors in Some Parkinsons Patients: Study
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/25/2016)... Oklahoma City, Oklahoma (PRWEB) , ... June 25, ... ... to helping both athletes and non-athletes recover from injury. Recently, he has implemented ... for the Oklahoma City area —Johnson is one of the first doctors to ...
(Date:6/24/2016)... ... June 24, 2016 , ... Those who have experienced ... feelings, many turn to unhealthy avenues, such as drug or alcohol abuse, as a ... has released tools for healthy coping following a traumatic event. , Trauma sufferers tend ...
(Date:6/24/2016)... ... 24, 2016 , ... Global law firm Greenberg Traurig, P.A. announced that 20 ... by their peers for this recognition are considered among the top 2 percent of ... honors as members of this year’s Legal Elite Hall of Fame: Miami Shareholders ...
(Date:6/24/2016)... Plano, TX (PRWEB) , ... June 24, 2016 , ... ... taking part in Genome magazine’s Code Talker Award, an essay contest in which patients ... for an award to be presented at the 2016 National Society of Genetic Counselors ...
(Date:6/24/2016)... ... 24, 2016 , ... Strategic Capital Partners, LLC (SCP) in ... investment capital for emerging technology companies. SCP has delivered investment events and ... more than a million dollars of capital investment for five companies. ...
Breaking Medicine News(10 mins):
(Date:6/26/2016)... 2016  VMS Rehab Systems, Inc. ( www.vmsrehabsystemsinc.com ) ... measures required to build a strong and stable market ... listed on the OTC Markets-pink current trading platform. ... "We are seeing an anomaly in market trading activities ... by the Company, but shareholders and market players as ...
(Date:6/24/2016)... 2016   Bay Area Lyme Foundation , ... Center for Tick Borne Illness , Harvard Medical ... Hacking Medicine, University of California, Berkeley, and the ... five finalists of Lyme Innovation , the ... 100 scientists, clinicians, researchers, entrepreneurs, and investors from ...
(Date:6/24/2016)... ANDOVER, Mass. and SAN CLEMENTE, Calif. ... California -based mobile pulmonary function testing company, is now ... portable PFT devices developed by ndd Medical Technologies , Inc. ... PFT testing done in hospital-based labs.  Thanks to ndd,s EasyOne PRO ... CA , can get any needed testing done in the ...
Breaking Medicine Technology: