A novel susceptibility locus for Takayasu arteritis in the IL12B region can be a genetic marker of disease severity

Heart and Vessels
Takayoshi MatsumuraMitsuaki Isobe

Abstract

Takayasu arteritis (TAK) is an acute and chronic vasculitis of unknown etiology. Recently, our group reported that SNP rs6871626 in the IL12B region had significant association with disease susceptibility to TAK. However, association of the SNP with clinical characteristics of TAK has yet to be determined. Therefore, we assessed whether this SNP was associated with TAK disease severity as represented by early onset and/or refractoriness to medical therapy. A total of 90 patients were genotyped for rs6871626 and their clinical charts were reviewed retrospectively. By examining the relationship between genotype and clinical profiles of patients, we found a strong association between the number of risk alleles and the frequency of severe cases as defined by (1) age at onset <20 years old, (2) steroid resistance, and/or (3) a relapse of disease [p = 0.03; odds ratio 3.75 (95 % confidence interval 1.13-13.5)]. Thus, our study points to potential diagnostic use of SNP rs6871626 for predicting disease severity of TAK, with the goal of genotyping-oriented therapy in the near future.

References

Oct 21, 2000·Lancet·F NumanoY Kobayashi
Dec 18, 2007·Nature Reviews. Immunology·Stanislas GorielyMichel Goldman
May 27, 2008·Nature Reviews. Immunology·Judy H Cho
Jun 22, 2010·Scandinavian Journal of Rheumatology·L H Jales-NetoR M R Pereira
Sep 3, 2010·Nature Reviews. Drug Discovery·Aaron L NelsonJanice M Reichert
Jan 26, 2011·Circulation Journal : Official Journal of the Japanese Circulation Society·UNKNOWN JCS Joint Working Group
Apr 16, 2011·Journal of the American College of Cardiology·Takashi IshiharaMitsuaki Isobe
Feb 4, 2012·Circulation Journal : Official Journal of the Japanese Circulation Society·Hirokazu OhigashiMitsuaki Isobe
Jun 6, 2012·Circulation Journal : Official Journal of the Japanese Circulation Society·Chisato TakamuraMitsuaki Isobe
Feb 5, 2013·Human Molecular Genetics·Andrew JohnstonJohann E Gudjonsson
Feb 19, 2013·International Journal of Cardiology·Mitsuaki Isobe
Jul 9, 2013·American Journal of Human Genetics·Güher Saruhan-DireskeneliAmr H Sawalha
Jun 3, 2014·Lancet·Larissa LisnevskaiaDavid Isenberg

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Citations

Mar 19, 2016·Inflammation Research : Official Journal of the European Histamine Research Society ... [et Al.]·Kun-Qi YangXian-Liang Zhou
May 31, 2016·Annals of Vascular Surgery·Raffaele SerraStefano de Franciscis
Mar 10, 2017·Scientific Reports·F David CarmonaUNKNOWN Vasculitis Clinical Research Consortium
Apr 28, 2017·Journal of Gastroenterology and Hepatology·Shintaro AkiyamaMamoru Watanabe
Jul 17, 2015·Journal of Human Genetics·Chikashi Terao
Jun 10, 2020·Inflammation and Regeneration·Hajime Yoshifuji, Chikashi Terao
Oct 26, 2018·Circulation. Genomic and Precision Medicine·Natsuko TamuraMitsuaki Isobe
Sep 25, 2021·Scientific Reports·Natsuko TamuraTetsuo Sasano

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