Possible Contribution of HLA-A0207, B5201 and IL-23 Receptor Polymorphism in Ocular Behçet Disease

Toshikatsu Kaburaki¹, Shinji Harihara², Rie Tanaka³, Hiromasa Sawamura⁴, Ai Nishi⁴, Atsushi Hatamochi⁵, Jun Shimizu⁶, Masumi Takeuchi⁷, Shoji Kuwata⁸, Hidetoshi Kawashima⁹ and Fujio Takeuchi¹⁰, ¹Ophthalmology, The University of Tokyo Graduate School of Medicine, Tokyo, Japan, ²Division of Anthropology, Department of Biological Science, The University of Tokyo Graduate School of Science, Tokyo, Japan, ³Department of Ophtalmology, The University of Tokyo Graduate School of Medicine,, Tokyo, Japan, ⁴Department of Ophtalmology, The University of Tokyo Graduate School of Medicine, Tokyo, Japan, ⁵Department of Dermatology, Dokkyo Medical University, Tochigi, Japan, ⁶Department of Neurology, The University of Tokyo Graduate School of Medicine, Tokyo, Japan, ⁷Teikyo University Support Center for Women Physicians and Researchers, Teikyo University School of Medicine, Tokyo, Japan, ⁸Third Department of Internal Medicine, Teikyo University Chiba Medical Center, Teikyo University School of Medicine, Chiba, Japan, ⁹Department of Ophthalmology, Jichi Medical University, Tochigi, Japan, ¹⁰Department of Allergy and Rheumatology, The University of Tokyo Graduate School of Medicine, Tokyo, Japan

Meeting: 2015 ACR/ARHP Annual Meeting

Date of first publication: September 29, 2015

Keywords: Behcet's syndrome, human leukocyte antigens (HLA), interleukins (IL), polymorphism and uveitis

Session Information

Date: Tuesday, November 10, 2015

Title: Vasculitis Poster III

Session Type: ACR Poster Session C

Session Time: 9:00AM-11:00AM

Background/Purpose: Behçet’s disease (BD) is known to be associated with
HLA-B*51:01 and HLA- A*26:01 in many different ethnic groups. Recently, HLA-A*02:07,
IL-10 and IL23R-IL12RB polymorphisms have been proposed as a candidate gene for
BD susceptibility. In this study,
we examined the association of the HLA-A*02:07 and single nucleotide polymorphism (SNP) of rs1495966
located in IL23R/IL12RB region using Japanese ocular BD patients.

Methods: One hundred and
thirty-six Japanese BD patients who suffered from uveitis and 213 healthy
controls were enrolled for analysis of polymorphisms of HLA class Iand the SNP of
rs1495966. Statistical analysis was
performed mainly with odds ratio (OR) with 95% confidential interval
(95%CI). Fisher’s exact test was
also carried out and the significance (p) was corrected by the numbers of
alleles compared (pc).

Results: Twenty three and 49 alleles were observed for HLA-A and
B, respectively. The phenotype frequencies (PF) of HLA-B*51:01 was significantly
higher in BD patients (44.1%) than in controls (15.5%) (OR=4.31 (95%CI=2.61-7.12),
pc=3.2x10E-7). The PF of HLA-A*26:01 was also significantly more frequent in BD
patients (35.3%) than in controls (15.5%) (OR=2.98 (1.78-4.96), pc=6.4x10E-4). The
PF of the BD patients carrying the A*26:01 or B*51:01 was extremely increased
comparing to the frequency in the control (71.3% Vs 28.2%, OR=6.34 (3.94-10.22),
pc=2.1x10E-12 (corrected by 23×49)). The PF of B*5201 was significantly
decreased in BD (10.3% Vs 25.4%, OR=0.34 (0.18-0.63, pc=0.024). The PF of the HLA-A*02:07 tended to be
increased in the BD-group without A*26:01 and B*51:01 (17.9% Vs 7.2%, OR=2.82
(1.02-7.85), pc= not significant (NS)). In addition, the PF of the HLA-B*39 was
increased in the BD-group without A*26:01 and B*51:01 (17.9% Vs 3.3%, OR=6.48
(1.93-21.70), pc= NS). The allele
frequency (AF) of rs1495966*A allele in IL23R/IL12RB region was significantly
increased in BD patients (53.7%) than in controls (44.8%) (OR=1.43 (1.05-1.93),
pc=0.024). In clinical
analysis, the PF of the B*51:01 was significantly associated with complete type
of BD (p=0.0416). The PF of the A*26:01 tended to be associated with
posterior/panuveitis (p=0.0979). The AF of GG in IL-23R SNP tended to be
associated with poor visual prognosis corresponding the best corrected-visual
acuity of 0.1 or less in the worse eyes (p=0.0643).

Conclusion: Our results indicated that, (1) HLA-A*02:07 is
another susceptibility gene for BD, associating independently from the B*51:01
and A*26:01, (2) HLA-B*39 is possibly associated with BD, (3) B*52:01 is a
protective allele for ocular BD in Japan, (4) rs1495966*A is associated with BD
and might be a disease marker for the severity of ocular disease.

Disclosure: T. Kaburaki, None; S. Harihara, None; R. Tanaka, None; H. Sawamura, None; A. Nishi, None; A. Hatamochi, None; J. Shimizu, None; M. Takeuchi, None; S. Kuwata, None; H. Kawashima, None; F. Takeuchi, None.

To cite this abstract in AMA style:

Kaburaki T, Harihara S, Tanaka R, Sawamura H, Nishi A, Hatamochi A, Shimizu J, Takeuchi M, Kuwata S, Kawashima H, Takeuchi F. Possible Contribution of HLA-A0207, B5201 and IL-23 Receptor Polymorphism in Ocular Behçet Disease [abstract]. Arthritis Rheumatol. 2015; 67 (suppl 10). https://acrabstracts.org/abstract/possible-contribution-of-hla-a0207-b5201-and-il-23-receptor-polymorphism-in-ocular-behcet-disease/. Accessed .

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