CINCINNATI, April 24, 2013 /PRNewswire-USNewswire/ -- Researchers report in
Nature Genetics they have increased the number of confirmed genes linked to
juvenile idiopathic arthritis (JIA) from three to 17 - a finding that will
clarify how JIA fits into the spectrum of autoimmune disorders and help identify
potential treatment targets.
Published April 21, the study involves an international research team that
analyzed 2,816 JIA cases recruited from more than 40 pediatric rheumatology
clinics. It was the largest collaborative patient population of JIA to date,
including patient DNA samples from across the United States, Germany and United
Kingdom, according to Susan Thompson, Ph.D., a researcher in the Division of
Rheumatology at Cincinnati Children's Hospital Medical Center who was a leader
for the study.
"These findings will help us understand how the long suspected genetic
contributions to JIA are driving the disease process, with the ultimate goal
being earlier and improved diagnosis and treatment," Thompson said.
JIA is the most common rheumatic disease of childhood that involves several
different but related forms. Affecting some 50,000 children in the U.S., the
actual cause of the disease remains unknown. JIA is considered an autoimmune
disorder, in which the body's immune system mounts an attack against its own
healthy tissues. JIA can be treated with medications and physical therapy, but
the disease can persist for many patients into adulthood.
Prior to the current study only three genes were associated with known JIA risk,
although scientists have suspected the likelihood that more genes are involved.
The research team used what is known as the Immunochip array to measure
variation in the genes (DNA) coding for components of the immune system for
2,816 JIA patients in the study. Those findings were compared to the DNA of
13,000 healthy controls to look for genetic differences.
The analyses re-confirmed JIA's connection to the original three genes,
identified a link to the 14 new genes and pointed to the possibility that
another 11 genetic regions may be implicated. The scientists stressed that their
work continues in order to identify additional genetic links and also begin
conducting functional studies to pinpoint disease processes.
Although the current study substantially increases the number of confirmed
susceptibility genes for JIA, the researchers said their data indicate that
additional genetic risk factors still remain to be discovered.
Other researchers helping lead the study included Carl Langefeld, Ph.D., and
Miranda Marion, MA, at the Wake Forest School of Medicine, Drs. Wendy Thomson,
Anne Hinks and Joanna Cobb at the University of Manchester in the UK, and
Sampath Prahalad, MD, at the Emory University School of Medicine.
Funding support for the research came, in part, from the U.S. National
Institutes of Health (RC1-AR-058587, U01-AI-067 150S1, N01-AR-42272,
P01-AR-048929, P30-AR-473639, K23-AR-50177, R01-AR-060893, R01-AR-057106,
N01-AR-62277, P30-GM-103510, U19-AI-082714, P30-AR-053483, RP-PG-0310-1002,
RC2AR059092, DK062431, DK62422, DK062432, DK06423, DK062429) from the Arthritis
Foundation, The Val A. Browning Charitable Trust and the Marcus Foundation.
About Cincinnati Children's
Cincinnati Children's Hospital Medical Center ranks third in the nation among
all Honor Roll hospitals in U.S. News and World Report's 2012 Best Children's
Hospitals ranking. It is ranked #1 for neonatology and in the top 10 for all
pediatric specialties. Cincinnati Children's is one of the top two recipients of
pediatric research grants from the National Institutes of Health and a research
affiliate of the University of Cincinnati College of Medicine. It is
internationally recognized for improving child health and transforming delivery
of care through fully integrated, globally recognized research, education and
innovation. Additional information can be found at www.cincinnatichildrens.org.
SOURCE Cincinnati Children's Hospital Medical Center