HLA-B*27 positivity was associated with a prolonged course of disease, higher incidence of AAU (14.7% vs 2%, P = 0.015), family history of spondyloarthritis (21.1% vs 5.9%; P = 0.015) and higher erythrocyte sedimentation rate as compared to HLA-B*27 negative patients (P < 0.01).
In the analysis comparing AS+AAU+ cases versus controls, HLA-B*27 and HLA-A*02:01 were significantly associated with the presence of AAU (P<10(-300) and P=6 × 10(-8), respectively).
In this Review, the relationship between AAU, SpA and the microbiome is discussed, with a focus on the major SpA risk gene HLA-B*27 and how it is associated with both intestinal tolerance and the loss of ocular immune privilege that can accompany AAU.
A comparison between all patients with AAU and healthy control subjects showed strong association over HLA-B, corresponding to the HLA-B27 tag single-nucleotide polymorphism rs116488202.
This study shows that a functional variant of miR-196a2 confers risk for BD but not for VKH syndrome or AAU(+)AS(+) by modulating the miR-196a gene expression and by regulating pro-inflammatory IL-1β and MCP-1 production.
Although a number of reports have now described an association between polymorphism of the LMP2 gene and disease phenotype in HLA-B27 positive individuals with ankylosing spondylitis (AS), some describe associations with acute anterior uveitis, others with juvenile onset disease, and one report provides no association.
As compared with the control group, the panuveitis group had significantly higher aqueous concentrations of MCP-1, IL-8, sVCAM, sICAM; the anterior uveitis group had significantly higher concentrations of MCP-1, MIP-1, sVCAM.
This study describes an association between acute anterior uveitis and MCP-1 63555 polymorphisms where the T allele may be a protective marker against the disease.
The requirement for both the less common LMP2 allele and HLA-B27 is consistent with the low prevalence of AAU in Mexican patients with spondyloarthritis.
The 47A polymorphism in the MnSOD gene and the -2518G polymorphism in the CCL2 gene are associated with the development of AU in HLA-B27-positive and -negative Chinese patients, respectively.
Furthermore, homozygosity for one LMP2 gene allele was significantly more prevalent in AS patients with AAU (71.3%) (p < 0.01) or peripheral arthritis (68.3%) (p < 0.02) than in B27 controls (45.2%).
Of the 10,990 AS patients, 8% were African-Americans (AA) and had elevated ESR, CRP, high frequency of anterior uveitis, hypertension, diabetes, depression and heart disease.
The study showed that a functional variant of PTPN22 confers risk for VKH syndrome but not for AAU+AS+ in a Chinese Han population, which may be due to a modulation of the PTPN22 expression, PBMC proliferation and IL-10 production.
Our results showed an association between AU and CFH polymorphism in Chinese female patients but not in males, indicating gender-specific genetic differences in CFH.
In the subgroup of 171 newly diagnosed patients with prospective follow-up data, higher mean C-reactive protein levels over time were demonstrated in those with acute anterior uveitis or IBD compared to those without EAMs or those with psoriasis alone (each P = 0.01).