Study unravels genetics behind debilitating inflammatory disease Takayasu arteritis

July 29, 2013

Researchers have uncovered the genetics behind what makes some people susceptible to Takayasu arteritis, a debilitating disease that can lead to poor circulation, easy tiredness in the legs and arms, organ damage and stroke.

A study led by the University of Michigan has identified five genes tied to Takayasu arteritis, an inflammation that damages the aorta and can lead to narrowed arteries, aneurysms, high blood pressure, and heart failure. The findings appear in the August issue of The American Journal of Human Genetics.

"Discovering the of Takayasu arteritis is a pivotal step that will lead to fundamental understanding of the and developing therapies to more effectively treat it," says senior author Amr Sawalha, M.D., associate professor of internal medicine in the division of rheumatology at the U-M Medical School. "This disease can be devastating but is understudied and poorly understood."

Takayasu arteritis mainly causes inflammation in the aorta – the large artery that carries blood from the heart to body– and other major blood vessels. This inflammation can also affect the heart valves, reduce blood flow to the legs and arms, and cause a stroke. Other symptoms include weight loss, fever, night sweats, fatigue and joint and muscle pain.

The disease is most common among women and typically occurs between the ages 20 and 40.

The new findings increase the number of genes linked to susceptibility to the disease to five risk areas both in the HLA (an inherited group of genes known as ) and outside the HLA. In addition to the previously established genetic association in HLA-B for Takayasu arteritis, researchers discovered and carefully localized novel areas in HLA-DQB1/HLA-DRB1, FCGR2A/FCGR3A, and PSMG1.

"We have established and localized the genetic association with IL12B, which encodes the P40 subunit of the interleukin-12 (IL-12) and IL-23," says Güher Saruhan-Direskeneli, M.D., professor of physiology at Istanbul University and co-author of the study.

"Therapies to inhibit the IL12/IL23 pathway have been successful in other inflammatory diseases, and these recent findings support investigating this pathway closer in Takayasu arteritis as a potential therapeutic target," Sawalha adds.

Explore further: Identification of two novel susceptibility genes to Takayasu Arteritis

More information: "Identification of Multiple Genetic Susceptibility Loci in Takayasu Arteritis," American Journal of Human Genetics, August, 2013, dx.doi.org/10.1016/j.ajhg.2013.05.026.

Related Stories

Identification of two novel susceptibility genes to Takayasu Arteritis

July 8, 2013
Two novel susceptibility genes to Takayasu Arteritis have been identified by a research group from the Department of Rhematology and Clinical Immunology, Kyoto University Graduate School of Medicine. This study was published ...

Researchers uncover new findings on genetic risks of Behçet's disease

February 15, 2013
Researchers don't know the exact cause of Behçet's disease, a chronic condition that leads to oral and genital sores and serious complications such as blindness, but new research brings better understanding to what makes ...

Unraveling complex genetic interplay for MS risks

July 15, 2013
A WA-cohort of patients has been used to study the risk modifying role of specific genes suspected to contribute to one's predisposition to multiple sclerosis (MS).

Researchers uncover gene's role in rheumatoid arthritis, findings pave way for new treatments

January 24, 2013
University of Michigan research sheds new light on why certain people are more likely to suffer from rheumatoid arthritis – paving the way to explore new treatments for both arthritis and other autoimmune diseases.

Researchers discover novel DNA variants that influence risk of blood cancer

June 27, 2013
(Medical Xpress)—Scientists at the Genome Institute of Singapore (GIS) recently led in two studies that revealed important genetic insights into the development of non-Hodgkin lymphoma (NHL). NHLs are some of the most common ...

Recommended for you

Scientists provide insight into genetic basis of neuropsychiatric disorders

July 21, 2017
A study by scientists at the Children's Medical Center Research Institute at UT Southwestern (CRI) is providing insight into the genetic basis of neuropsychiatric disorders. In this research, the first mouse model of a mutation ...

Scientists identify new way cells turn off genes

July 19, 2017
Cells have more than one trick up their sleeve for controlling certain genes that regulate fetal growth and development.

South Asian genomes could be boon for disease research, scientists say

July 18, 2017
The Indian subcontinent's massive population is nearing 1.5 billion according to recent accounts. But that population is far from monolithic; it's made up of nearly 5,000 well-defined sub-groups, making the region one of ...

Mutant yeast reveals details of the aberrant genomic machinery of children's high-grade gliomas

July 18, 2017
St. Jude Children's Research Hospital biologists have used engineered yeast cells to discover how a mutation that is frequently found in pediatric brain tumor high-grade glioma triggers a cascade of genomic malfunctions.

Late-breaking mutations may play an important role in autism

July 17, 2017
A study of nearly 6,000 families, combining three genetic sequencing technologies, finds that mutations that occur after conception play an important role in autism. A team led by investigators at Boston Children's Hospital ...

Newly identified genetic marker may help detect high-risk flu patients

July 17, 2017
Researchers have discovered an inherited genetic variation that may help identify patients at elevated risk for severe, potentially fatal influenza infections. The scientists have also linked the gene variant to a mechanism ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.