Scientists perform first Asian genome-wide association study on spine disease

December 5, 2011, Agency for Science, Technology and Research (A*STAR), Singapore

Singapore and China scientists, headed by Dr Liu Jianjun, Senior Group Leader and Associate Director of Human Genetics at the Genome Institute of Singapore (GIS) and Dr Gu Jieruo, a rheumatologist at the 3rd Affiliated Hospital of the Sun Yat-Sen University, have identified new genes that are associated with the spine disease ankylosing spondylitis (AS). This discovery, reported in the advanced online issue of Nature Genetics on 4 December 2011, brings scientists closer to understanding the disease and work towards its cure.

AS is a progressive autoimmune disease. It is characterized by the inflammatory , partly accompanied by peripheral arthritis, enthesis and iritis, and even spinal deformity and ankylosis. It can cause eventual fusion of the spine, a condition known as "bamboo spine". Its prevalence is 2.4 per 1,000 in the Chinese population, similar to that in populations of . Genetic factors play an important role in the pathogenesis of AS and the estimated heritability is over 90%.

The gene HLA-B27 had previously been shown to be strongly associated with AS susceptibility, but it confers only 20-30% of the overall genetic risk. In order to identify other genes for AS, Drs Liu and Gu and their collaborators carried out a large genome-wide association study of AS in Chinese Han population. Initially, they performed a comprehensive genome-wide analysis of common genetic variants in 1,837 AS patients and 4,231 controls. Subsequently, they selected 30 genes for a validation study in an additional 2,100 patients and 3,496 controls. The researchers discovered two novel , EDIL3-HAPLN1 on 5q14.3 and ANO6 on 12q12. The newly discovered susceptibility loci implicate the genes related to bone formation and cartilage development, suggesting their potential involvement in the development of AS.

Their study also confirmed the previously reported association with HLA-B*27 variants, and the susceptibility locus on 2p15 in European population.

Dr Liu said: "AS is an autoimmune disease, and the association of HLA-B*27 is not surprising. Our study confirms the important role of the immunity, but more importantly, it indicates that other mechanisms, such as bone formation and cartilage development also play an important role in AS."

Explore further: Genome-wide study reveals 3 new susceptibility loci for adult asthma in Japanese population

More information: The research findings described in the press release can be found in the 4 December 2011 advanced online issue of Nature Genetics under the title "A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis".

Related Stories

Genome-wide study reveals 3 new susceptibility loci for adult asthma in Japanese population

July 31, 2011
Researchers at the RIKEN Center for Genomic Medicine (CGM), together with colleagues at Kyoto University, Tsukuba University, Harvard University, and other medical institutions have identified three new loci associated with ...

Scientists unlock genetics of joint disorder ankylosing spondylitis

July 10, 2011
(Medical Xpress) -- A study involving over 5,000 people living with the joint disorder ankylosing spondylitis has identified a series of genetic variants associated with increased susceptibility to the condition as well as ...

Recommended for you

Discovery of the 'pioneer' that opens the genome

January 23, 2018
Our genome contains all the information necessary to form a complete human being. This information, encoded in the genome's DNA, stretches over one to two metres long but still manages to squeeze into a cell about 100 times ...

Researchers identify gene responsible for mesenchymal stem cells' stem-ness'

January 22, 2018
Many doctors, researchers and patients are eager to take advantage of the promise of stem cell therapies to heal damaged tissues and replace dysfunctional cells. Hundreds of ongoing clinical trials are currently delivering ...

Genes contribute to biological motion perception and its covariation with autistic traits

January 22, 2018
Humans can readily perceive and recognize the movements of a living creature, based solely on a few point-lights tracking the motion of the major joints. Such exquisite sensitivity to biological motion (BM) signals is essential ...

Peers' genes may help friends stay in school, new study finds

January 18, 2018
While there's scientific evidence to suggest that your genes have something to do with how far you'll go in school, new research by a team from Stanford and elsewhere says the DNA of your classmates also plays a role.

Two new breast cancer genes emerge from Lynch syndrome gene study

January 18, 2018
Researchers at Columbia University Irving Medical Center and NewYork-Presbyterian have identified two new breast cancer genes. Having one of the genes—MSH6 and PMS2—approximately doubles a woman's risk of developing breast ...

A centuries-old math equation used to solve a modern-day genetics challenge

January 18, 2018
Researchers developed a new mathematical tool to validate and improve methods used by medical professionals to interpret results from clinical genetic tests. The work was published this month in Genetics in Medicine.

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.