Abstract
Previous studies have demonstrated associations of ANTXR2 gene polymorphisms with ankylosing spondylitis (AS). These associations differ depending on the ethnic populations and AS subgroups studied. Purposes of the current study were to evaluate the associations of 4 single nucleotide polymorphisms (SNPs) of the ANTXR2 gene with susceptibility to AS alone or AS in combination with acute anterior uveitis (AAU) in Chinese Han. Therefore, a case-control association study was performed in 880 AS+AAU−, 860 AS+AAU+, and 1700 healthy controls. Genotyping was performed using the iPLEXGold genotyping assay. Our results showed a weak association of rs6534639 AA genotype with AS+AAU+ patients (p=0.042), which was lost after correction for multiple comparisons. No other association was found between SNPs of ANTXR2 and susceptibility of AS+AAU− or AS+AAU+. A meta-analysis was performed to evaluate the associations of polymorphisms in the ANTXR2 gene with AS. Results showed a weak association of rs4389526 with AS susceptibility in all studies but failed to show an association of rs6534639 with AS in Chinese Han. Taken together, this study shows no association between ANTXR2 polymorphisms and AS susceptibility in a Chinese Han population, but meta-analysis showed that rs4389526 in the ANTXR2 gene was weakly associated with AS susceptibility in both Caucasian and Chinese Han patients.
Highlights
Ankylosing spondylitis (AS) is a chronic, inflammatory arthritis that primarily affects the spine and sacroiliac joints
In addition to HLA-B27, which is the strongest genetic factor associated with AS and Acute anterior uveitis (AAU), genome-wide association studies (GWAS) have identified various other loci contributing to susceptibility to AS, such as interleukin-23 receptor, endoplasmic reticulum associated aminopeptidase (ERAP1/ERAP2), runt-related transcription factor 3 (RUNX3), and anthrax toxin receptor 2 (ANTXR2) [3,4,5]
There was no difference in the male frequency between the AS+AAU− and AS+AAU+ groups (67.56% versus 69.32%, p=0.43)
Summary
Ankylosing spondylitis (AS) is a chronic, inflammatory arthritis that primarily affects the spine and sacroiliac joints. It is classified into the family of spondyloarthropathies. ANTXR2 encodes a receptor for anthrax toxin and may be involved in extracellular matrix adhesion Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis [8, 9]. Though the precise mechanism of ANTXR2 involvement in AS is not clear, several studies showed an association of genetic polymorphisms in this gene with AS [3, 6, 10]. Robinson et al [6] reported that rs4389526 in the ANTXR2 gene showed an association with AS+AAU− but not with AS+AAU+ suggesting a different genetic predisposition for the two AS subgroups. Since the ANTXR2 associations have not yet been investigated in Chinese AS subgroups we decided to perform a case-control study in a large group of AS+AAU− and AS+AAU+ patients
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