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

December 5, 2011

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

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 ...

Newly discovered gene variants link innate immunity and Alzheimer's disease

July 17, 2017
Three new gene variants, found in a genome wide association study of Alzheimer's disease (AD), point to the brain's immune cells in the onset of the disorder. These genes encode three proteins that are found in microglia, ...

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.