Researchers have discovered two new genes that are implicated in a spine-fusing type of arthritis, called ankylosing spondylitis (AS), in a new study.
AS, an inflammatory and potentially disabling disease, can lead to people becoming fixed in a bent position looking at their feet.
The researchers also pinpointed two areas along stretches of DNA that play an important role in regulating gene activity associated with the arthritic condition.
An international consortium of scientists led by Oxford University, the University of Queensland and the University of Texas, carried out a genome-wide study of 2,053 people with AS and 5,140 matched controls.
"This helps us better understand what is driving this disease and gives us direction for new treatments and diagnostic tests," Nature quoted Dr. John D. Reveille, the study's principal investigator.
Reveille and Dr. Matthew A. Brown at Australia's University of Queensland, led the research by the Triple "A" Spondylitis Consortium Genetic Study (i.e. the TASC or Australo-Anglo-American Spondylitis Consortium).
Based on work from a genome-wide association scan, they identified genes ANTXR2 and IL1R2 as well as two gene deserts, segments of DNA between genes on chromosomes 2 and 21 that are associated with ankylosing spondylitis.
Specifically, the study also confirmed the Triple "A" Australo-Anglo-American Spondylitis Consortium's previously reported associations of genes IL23R and ERAP1, formerly known as ARTS1.
Reveille said that the genetic discoveries bring the scientific community closer to fully understanding AS, a chronic form of arthritis that attacks the spine and also can target other joints and organs in the body.
AS generally strikes patients in their teens, 20s or 30s and can cause a complete fusion of the spine, leaving patients unable to straighten and bend.
Steve Haskew, who has lived with AS for more than three decades, said these genetic discoveries offer hope to patients, especially those newly diagnosed.
The study has been published in the January issue of Nature Genetics.