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 was
uncovered by researchers.A study led by the University of Michigan has identified five
genes tied to Takayasu arthritis, 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 genetic makeup of Takayasu arteritis is a pivotal step
that will lead to fundamental understanding of the disease mechanisms
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 arthritis 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 human leukocyte antigen) and outside the HLA. In
addition to the previously established genetic association in HLA-B for
Takayasu arteritis, researchers discovered and carefully localized novel
genetic risk 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.
Source:American Journal of Human Genetics.
Source:American Journal of Human Genetics.
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