Background/Purpose . Takayasu arteritis (TAK) is a systemic vasculitis affecting large arteries and large branches of the aorta. Ulcerative colitis (UC) is a prevalent autoimmune colitis. Since TAK and UC share HLA-B*52:01 and IL12B as genetic determinants, and concurrent cases of these two diseases have been reported, we hypothesized that UC is a common complication of TAK. Here, we performed an observational study to evaluate concurrence ratio of TAK and UC followed by genetic analysis of shared susceptibility genes between the two diseases.
Methods . A total of 470 consecutive patients with TAK from 14 Japanese institutions were registered. Concurrence ratio of TAK and UC were searched in each institution. We characterized patients with TAK and UC by analyzing clinical manifestations and genetic components. Genetic overlapping of TAK and UC was evaluated with use of UC susceptibility SNPs by comparing risk directions and effect sizes between susceptibility to the two diseases.
Results . We found that 29 patients out of 470 patients with TAK suffered from UC (6.2% (95%CI:4.2%-8.7%)). This ratio was much higher than expected based on prevalence of UC (0.11%). Patients with TAK and UC developed TAK at an earlier stage of life (p=0.0051) and showed significant enrichment of HLA-B*52:01 in comparison to patients without UC (p=1.9×10-5, OR:11.60, 95%CI:2.82-102.65). The patients with the two diseases did not display higher frequency of aortic regurgitation (AR) or severer AR than patients without UC. While the TAK patients with UC displayed high risk allele frequency of rs6871626 in the IL12B region in comparison with patients without UC, the difference did not reach the significant level (88.0% vs 75.7%, p=0.22, OR:2.35 (0.68-12.53)). The 103 susceptibility SNPs to UC displayed common risk directions with TAK susceptibility (p=0.00074), while the 133 susceptibility SNPs to human height as a non-immunological reference did not show common risk directions with TAK susceptibility (p=0.13).
Conclusion . UC is a major complication of TAK. These two diseases share a significant proportion of their genetic background and HLA-B*52:01 may play a central role on the concurrence.
Disclosure:
C. Terao,
None;
T. Matsumura,
None;
H. Yoshifuji,
None;
Y. Kirino,
None;
Y. Maejima,
None;
Y. Nakaoka,
None;
M. Takahashi,
None;
E. Amiya,
None;
N. Tamura,
None;
T. Nakajima,
None;
T. Origuchi,
None;
T. Horita,
None;
M. Matsukura,
None;
Y. Kochi,
None;
A. Ogimoto,
None;
M. Yamamoto,
None;
H. Takahashi,
None;
S. Nakayamada,
None;
K. Saito,
None;
Y. Wada,
None;
I. Narita,
None;
Y. Kawaguchi,
None;
H. Yamanaka,
None;
K. Ohmura,
None;
T. Atsumi,
None;
K. Tanemoto,
None;
T. Miyata,
None;
M. Kuwana,
None;
I. Komuro,
None;
Y. Tabara,
None;
A. Ueda,
None;
M. Isobe,
None;
T. Mimori,
None;
F. Matsuda,
None.
« Back to 2014 ACR/ARHP Annual Meeting
ACR Meeting Abstracts - https://acrabstracts.org/abstract/takayasu-arteritis-and-ulcerative-colitis-high-concurrence-ratio-and-genetic-overlap/