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Brief report: high-throughput sequencing of IL23R reveals a low-frequency, nonsynonymous single-nucleotide polymorphism that is associated with ankylosing spondylitis in a Han Chinese population.
Stuart I Davidson
1 ,
Lei Jiang ,
Adrian Cortes ,
Xin Wu ,
Evgeny A Glazov ,
Marina Donskoi ,
Yi Zheng ,
Patrick A Danoy ,
Yi Liu ,
Gethin P Thomas ,
Matthew A Brown ,
Huji Xu
Jul 2013
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Abstract
Ankylosing spondylitis (AS) is a highly heritable common inflammatory arthritis that targets the spine and sacroiliac joints of the pelvis, causing pain and stiffness and leading eventually to joint fusion. Although previous studies have shown a strong association of IL23R with AS in white Europeans, similar studies in East Asian populations have shown no association with common variants of IL23R, suggesting either that IL23R variants have no role or that rare genetic variants contribute. The present study was undertaken to screen IL23R to identify rare variants associated with AS in Han Chinese.