Featured Research

from universities, journals, and other organizations

Blood brothers (and sisters): Sibling study discovers genetic region linked to control of key blood-clotting protein

Date:
January 8, 2013
Source:
University of Michigan
Summary:
In 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.

Dr. Karl Desch of the U-M Medical School removes blood samples from a liquid nitrogen storage tank.
Credit: Craig Breil

In 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.

Related Articles


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 disorder -- it'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.


Story Source:

The above story is based on materials provided by University of Michigan. Note: Materials may be edited for content and length.


Journal Reference:

  1. K. C. Desch, A. B. Ozel, D. Siemieniak, Y. Kalish, J. A. Shavit, C. D. Thornburg, A. A. Sharathkumar, C. P. McHugh, C. C. Laurie, A. Crenshaw, D. B. Mirel, Y. Kim, C. D. Cropp, A. M. Molloy, P. N. Kirke, J. E. Bailey-Wilson, A. F. Wilson, J. L. Mills, J. M. Scott, L. C. Brody, J. Z. Li, D. Ginsburg. Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association. Proceedings of the National Academy of Sciences, 2012; DOI: 10.1073/pnas.1219885110

Cite This Page:

University of Michigan. "Blood brothers (and sisters): Sibling study discovers genetic region linked to control of key blood-clotting protein." ScienceDaily. ScienceDaily, 8 January 2013. <www.sciencedaily.com/releases/2013/01/130108122959.htm>.
University of Michigan. (2013, January 8). Blood brothers (and sisters): Sibling study discovers genetic region linked to control of key blood-clotting protein. ScienceDaily. Retrieved February 1, 2015 from www.sciencedaily.com/releases/2013/01/130108122959.htm
University of Michigan. "Blood brothers (and sisters): Sibling study discovers genetic region linked to control of key blood-clotting protein." ScienceDaily. www.sciencedaily.com/releases/2013/01/130108122959.htm (accessed February 1, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Sunday, February 1, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Hikers Rescued After Fall from Oregon Mountain

Hikers Rescued After Fall from Oregon Mountain

AP (Feb. 1, 2015) Two climbers who were hurt in a fall on Mount Hood are now being treated for their injuries. Rescue officials say they were airlifted off the mountain Saturday afternoon by an Oregon National Guard helicopter. (Feb. 2) Video provided by AP
Powered by NewsLook.com
Smart Glasses Augment Reality to Help Visually Impaired

Smart Glasses Augment Reality to Help Visually Impaired

Reuters - Innovations Video Online (Feb. 1, 2015) New augmented reality smart glasses developed by researchers at Oxford University can help people with visual impairments improve their vision by providing depth-based feedback, allowing users to "see" better. Joel Flynn reports. Video provided by Reuters
Powered by NewsLook.com
Flu Season Hitting Elderly Hard

Flu Season Hitting Elderly Hard

Reuters - US Online Video (Jan. 31, 2015) The CDC says this year&apos;s flu season is hitting people 65 years of age and older especially hard. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
CDC: Get Vaccinated for Measles

CDC: Get Vaccinated for Measles

Reuters - US Online Video (Jan. 30, 2015) The CDC is urging people to get vaccinated for measles amid an outbreak that began at Disneyland and has now infected more than 90 people. Linda So reports. Video provided by Reuters
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins