Brief Report: High‐Throughput Sequencing of <i>IL23R</i> Reveals a Low‐Frequency, Nonsynonymous Single‐Nucleotide Polymorphism That Is Associated With Ankylosing Spondylitis in a Han Chinese Population

Abstract

This is the first study to implicate rare IL23R variants in the pathogenesis of AS. The results identified a low-frequency nsSNP with predicted loss-of-function effects that was protectively associated with AS in Han Chinese, suggesting that decreased function of the interleukin-23 (IL-23) receptor protects against AS. These findings further support the notion that IL-23 signaling has an important role in the pathogenesis of AS.